Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CTNNB1	1499	broad.mit.edu	37	3	41274905	41274905	+	Silent	SNP	C	T	T	rs74692094	by1000genomes	TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr3:41274905C>T	uc010hia.1	+	8	1311	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	CTNNB1_uc003ckq.2_Silent_p.L385L|CTNNB1_uc003ckp.2_Silent_p.L385L|CTNNB1_uc003ckr.2_Silent_p.L385L|CTNNB1_uc011azf.1_Silent_p.L378L|CTNNB1_uc011azg.1_Silent_p.L313L|CTNNB1_uc003cks.3_5'UTR|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	385					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		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)	TTTGGACTCTCAGGAATCTTT	0.413000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					67			39		0	0	0.111260	0	0
PSD2	84249	broad.mit.edu	37	5	139197069	139197069	+	Silent	SNP	C	T	T	rs142589356		TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:139197069C>T	uc003leu.1	+	4	1225	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	340	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCAGCAACGAGTTTAGCA	0.592000														29			18		0	0	0.160694	0	0
POM121	9883	broad.mit.edu	37	7	72412723	72412723	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr7:72412723A>G	uc003twk.2	+	10	2191	c.2191A>G	c.(2191-2193)Att>Gtt	p.I731V	POM121_uc003twj.3_Missense_Mutation_p.I466V|POM121_uc010lam.1_Missense_Mutation_p.I466V	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	731	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GTTCAAGCCCATTTTCACGGC	0.627000														40			23		0	0	0.099896	0	0
DEPDC5	9681	broad.mit.edu	37	22	32301997	32301997	+	Silent	SNP	T	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr22:32301997T>G	uc011alu.2	+	41	4666	c.4464T>G	c.(4462-4464)tcT>tcG	p.S1488S	DEPDC5_uc011als.2_Silent_p.S1388S|DEPDC5_uc003als.3_Silent_p.S1457S|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.S1479S|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.S906S|DEPDC5_uc003alw.3_Silent_p.S755S|DEPDC5_uc011alx.2_Silent_p.S305S|DEPDC5_uc010gwk.3_Silent_p.S483S|DEPDC5_uc011aly.2_Silent_p.S305S	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1457					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATAAATATTCTGCCTCTGCTT	0.488000														16			18		0	0	0.175082	0	0
HRC	3270	broad.mit.edu	37	19	49658341	49658341	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:49658341C>T	uc002pmv.3	-	0	341	c.154G>A	c.(154-156)Gag>Aag	p.E52K	TRPM4_uc002pmw.3_5'Flank|TRPM4_uc010emu.3_5'Flank|TRPM4_uc010yak.2_5'Flank|TRPM4_uc002pmx.3_5'Flank|TRPM4_uc010emv.3_5'Flank|TRPM4_uc010yal.2_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	52					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GCTGATGCCTCCTCGGAGAGC	0.597000														125			18		0	0	0.049695	0	0
MYC	4609	broad.mit.edu	37	8	128750680	128750680	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr8:128750680A>C	uc022bbe.1	+	1	742	c.172A>C	c.(172-174)Acc>Ccc	p.T58P	MYC_uc003ysh.1_Missense_Mutation_p.T58P|MYC_uc003ysi.3_Missense_Mutation_p.T73P			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	58					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GCTGCTGCCCACCCCGCCCCT	0.677000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			4		0	0	0.058154	0	0
GDF7	151449	broad.mit.edu	37	2	20871056	20871056	+	Silent	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:20871056C>T	uc002rdz.1	+	1	1800	c.1224C>T	c.(1222-1224)gaC>gaT	p.D408D		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	Homo sapiens growth differentiation factor 7 (GDF7), mRNA.	408					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCACCAGACGCGGCGCCGG	0.612000														4			9		0	0	0.058154	0	0
NFKB2	4791	broad.mit.edu	37	10	104161522	104161522	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:104161522G>C	uc001kvb.3	+	20	2579	c.2314G>C	c.(2314-2316)Gat>Cat	p.D772H	NFKB2_uc001kva.3_Missense_Mutation_p.D772H|NFKB2_uc001kvd.3_Missense_Mutation_p.D772H|NFKB2_uc009xxc.3_Missense_Mutation_p.D772H	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	772	Death.		Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.D772G(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GTCACTTGGTGATACAGCTCT	0.597000			T	IGH@	B-NHL									30			7		0	0	0.038147	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94915545	94915545	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr7:94915545C>A	uc003unp.3	+	12	3067	c.2785C>A	c.(2785-2787)Ccc>Acc	p.P929T	PPP1R9A_uc010lfj.3_Missense_Mutation_p.P1213T|PPP1R9A_uc011kif.2_Missense_Mutation_p.P1135T|PPP1R9A_uc003unq.3_Missense_Mutation_p.P1153T|PPP1R9A_uc011kig.2_Missense_Mutation_p.P929T|PPP1R9A_uc003unr.3_Missense_Mutation_p.P226T	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	929	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGACTTCAGTCCCAGCAGTAC	0.453000										HNSCC(28;0.073)				37			20		1.15919e-05	1.17744e-05	0.049695	1	0
NANOG	79923	broad.mit.edu	37	12	7942255	7942255	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr12:7942255A>C	uc009zfy.1	+	0	261	c.45A>C	c.(43-45)gaA>gaC	p.E15D		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	15					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTTGCTTTGAAGCATCCGACT	0.443000														131			25		0	0	0.099896	0	0
GPKOW	27238	broad.mit.edu	37	X	48979068	48979068	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chrX:48979068G>A	uc004dmr.3	-	1	242	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA.	79						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GGCTGCCTGCGATGGCCATTC	0.637000														14			16		0	0	0.132662	0	0
LIPI	149998	broad.mit.edu	37	21	15554081	15554081	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr21:15554081T>C	uc002yjm.3	-	3	714	c.704A>G	c.(703-705)aAt>aGt	p.N235S	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.N214S|LIPI_uc021whh.1_Missense_Mutation_p.N214S|LIPI_uc021whi.1_Missense_Mutation_p.N49S|LIPI_uc021whj.1_Missense_Mutation_p.N214S|LIPI_uc021whe.1_Missense_Mutation_p.N214S|LIPI_uc021whf.1_Missense_Mutation_p.N214S	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	214					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTGTTACCATTGGAGTCAGA	0.398000														21			21		0	0	0.049695	0	0
AGAP5	729092	broad.mit.edu	37	10	75457454	75457454	+	Silent	SNP	T	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:75457454T>C	uc009xri.3	-	0	101	c.60A>G	c.(58-60)caA>caG	p.Q20Q	AGAP5_uc001juu.4_5'UTR	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.	20					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.Q20Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CCGACCCCTGTTGCTGGTCAA	0.607000														75			3		0	0	0.014758	0	0
ZNF85	7639	broad.mit.edu	37	19	21131687	21131687	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:21131687G>C	uc002npg.4	+	3	515	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	ZNF85_uc010ecn.3_Missense_Mutation_p.E58Q|ZNF85_uc010eco.3_Missense_Mutation_p.E71Q|ZNF85_uc002npi.3_Missense_Mutation_p.E64Q	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	123						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAGTATGGATGAGTGTAAGAT	0.338000														76			3		0	0	0.115264	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596079	41596079	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:41596079C>G	uc002opt.3	+	2	480	c.471C>G	c.(469-471)atC>atG	p.I157M		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	157					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCTTCCTCATCGACGCCCTCC	0.687000														21			35		0	0	0.086207	0	0
OR51B6	390058	broad.mit.edu	37	11	5373545	5373545	+	Missense_Mutation	SNP	G	T	T	rs138981931		TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:5373545G>T	uc010qzb.2	+	0	808	c.808G>T	c.(808-810)Gtt>Ttt	p.V270F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTCATGTCGTTCACATCAC	0.398000														99			77		2.48295e-43	2.66917e-43	0.139131	1	0
C14orf93	60686	broad.mit.edu	37	14	23467861	23467861	+	Silent	SNP	A	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr14:23467861A>C	uc001wib.2	-	1	682	c.372T>G	c.(370-372)ccT>ccG	p.P124P	C14orf93_uc001wic.2_5'UTR|C14orf93_uc001wig.3_Silent_p.P124P|C14orf93_uc001wih.3_Silent_p.P124P|C14orf93_uc001wie.3_Silent_p.P124P|C14orf93_uc001wia.4_Silent_p.P124P|C14orf93_uc001wif.3_5'UTR	NM_021944	NP_068763	Q9H972	CN093_HUMAN	Homo sapiens chromosome 14 open reading frame 93 (C14orf93), transcript variant 1, mRNA.	124						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TGAGAGGCCCAGGCTCCTCAG	0.597000														28			19		0	0	0.049695	0	0
C17orf48	56985	broad.mit.edu	37	17	10608559	10608559	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr17:10608559C>T	uc002gmt.3	+	1	391	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	C17orf48_uc002gmv.3_Non-coding_Transcript|C17orf48_uc002gmu.3_Non-coding_Transcript|C17orf48_uc010vvg.1_Missense_Mutation_p.H106Y	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	Homo sapiens chromosome 17 open reading frame 48 (C17orf48), mRNA.	106							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding			breast(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TCCAGTTCATCATACATGGGG	0.353000														87			17		0	0	0.160694	0	0
MYO18A	399687	broad.mit.edu	37	17	27430634	27430634	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr17:27430634A>T	uc002hdt.1	-	20	3648	c.3490T>A	c.(3490-3492)Tgc>Agc	p.C1164S	MYO18A_uc010wbc.1_Missense_Mutation_p.C706S|MYO18A_uc002hds.2_Missense_Mutation_p.C706S|MYO18A_uc010csa.1_Missense_Mutation_p.C1164S|MYO18A_uc002hdu.1_Missense_Mutation_p.C1164S|MYO18A_uc010wbd.1_Missense_Mutation_p.C833S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1164	Myosin head-like.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGGCCCATGCAGCAGCTGCTC	0.657000														14			14		0	0	0.119110	0	0
ASIC5	51802	broad.mit.edu	37	4	156763436	156763436	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr4:156763436C>T	uc003ipe.1	-	5	979	c.932G>A	c.(931-933)aGc>aAc	p.S311N		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	311						integral to membrane|plasma membrane											ACCAGAAGTGCTGTAGCTGCT	0.418000														45			59		0	0	0.139131	0	0
TNRC18	84629	broad.mit.edu	37	7	5352384	5352384	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr7:5352384G>A	uc003soi.4	-	26	8487	c.8138C>T	c.(8137-8139)tCg>tTg	p.S2713L		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2713							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGAGTGGGCCGAGGGCCGCGC	0.761000														16			4		0	0	0.029380	0	0
HS6ST2	90161	broad.mit.edu	37	X	132091225	132091225	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chrX:132091225G>C	uc011mvd.1	-	2	974	c.558C>G	c.(556-558)ttC>ttG	p.F186L	HS6ST2_uc011mvb.1_Missense_Mutation_p.F40L|HS6ST2_uc011mvc.1_Missense_Mutation_p.F40L|HS6ST2_uc011mve.1_Missense_Mutation_p.F186L	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	186						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CCGGGGAGCTGAACGCCTGCA	0.632000														38			3		0	0	0.115264	0	0
ARID1A	8289	broad.mit.edu	37	1	27057775	27057775	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:27057775C>T	uc001bmv.1	+	2	1856	c.1483C>T	c.(1483-1485)Cat>Tat	p.H495Y	ARID1A_uc001bmt.1_Missense_Mutation_p.H495Y|ARID1A_uc001bmu.1_Missense_Mutation_p.H495Y|ARID1A_uc001bmw.1_Missense_Mutation_p.H112Y	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	495					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGACCCCTCATGCCCAACC	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									318			52		0	0	0.139131	0	0
LRBA	987	broad.mit.edu	37	4	151827110	151827110	+	Silent	SNP	A	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr4:151827110A>T	uc010ipj.3	-	12	1879	c.1635T>A	c.(1633-1635)ctT>ctA	p.L545L	LRBA_uc003ilu.4_Silent_p.L545L|LRBA_uc010ipk.1_Silent_p.L464L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	545						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGCAAAGTTCAAGTACTGCTC	0.388000														40			31		0	0	0.183431	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929514	32929514	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr15:32929514C>T	uc001zgy.1	+	11	3262	c.2540C>T	c.(2539-2541)tCt>tTt	p.S847F	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.S658F|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.S658F	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	847					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGAATTAATTCTTTGTTGGAG	0.408000														130			6		0	0	0.021553	0	0
FAT2	2196	broad.mit.edu	37	5	150892049	150892049	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:150892049T>C	uc003lue.4	-	19	11595	c.11582A>G	c.(11581-11583)gAc>gGc	p.D3861G	FAT2_uc003lud.4_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3861	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGGAAGCGTCCATCTCCTC	0.577000														80			4		0	0	0.150653	0	0
EXOC3	11336	broad.mit.edu	37	5	446365	446365	+	Silent	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:446365G>A	uc003jba.3	+	1	173	c.45G>A	c.(43-45)agG>agA	p.R15R		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	26					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CAGTGCAAAGGGTTGCTGGGA	0.587000														49			37		0	0	0.086207	0	0
ZNF485	220992	broad.mit.edu	37	10	44112496	44112496	+	Silent	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:44112496C>T	uc010qfc.2	+	4	1199	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ZNF485_uc010qfd.2_Silent_p.F244F	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAAATCTTTCAGGTATAGCT	0.428000														63			37		0	0	0.104719	0	0
C1orf177	163747	broad.mit.edu	37	1	55272686	55272686	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:55272686T>C	uc001cyb.4	+	1	176	c.122T>C	c.(121-123)gTt>gCt	p.V41A	C1orf177_uc001cya.4_Missense_Mutation_p.V41A	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	41										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ATCTCTGCTGTTTATCCCAAC	0.582000														113			79		0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179401833	179401833	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:179401833C>T	uc021vsy.1	-	304	92524	c.92299G>A	c.(92299-92301)Gag>Aag	p.E30767K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E24462K|TTN_uc021vta.1_Missense_Mutation_p.E24395K|TTN_uc021vtb.1_Missense_Mutation_p.E24270K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31694	Fibronectin type-III 124.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCCCCCTCCTTGGCCTCA	0.502000														54			15		0	0	0.119110	0	0
LONP2	83752	broad.mit.edu	37	16	48385617	48385617	+	Silent	SNP	T	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr16:48385617T>C	uc002efi.1	+	14	2552	c.2463T>C	c.(2461-2463)ttT>ttC	p.F821F	MIR548AE2_uc021thr.1_Intron|LONP2_uc002efj.1_Silent_p.F777F	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	821					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATTTAAGTTTTGTCACAGCAA	0.473000														48			33		0	0	0.144211	0	0
FOXK2	3607	broad.mit.edu	37	17	80525990	80525990	+	Silent	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr17:80525990C>T	uc002kfn.3	+	2	846	c.675C>T	c.(673-675)ggC>ggT	p.G225G	FOXK2_uc002kfm.1_Silent_p.G225G|FOXK2_uc010diu.3_Silent_p.G225G	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	225					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACAAGGTGGGCCGAGTGATGC	0.522000														39			3		0	0	0.115264	0	0
SRRM2	23524	broad.mit.edu	37	16	2818196	2818196	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr16:2818196C>G	uc002crk.3	+	10	8216	c.7667C>G	c.(7666-7668)tCt>tGt	p.S2556C	SRRM2_uc002crj.1_Missense_Mutation_p.S2460C|SRRM2_uc002crl.1_Missense_Mutation_p.S2556C|SRRM2_uc010bsu.1_Missense_Mutation_p.S2460C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2556	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						tcctcctcctcTGGCTCCAGT	0.572000														20			13		0	0	0.119110	0	0
OASL	8638	broad.mit.edu	37	12	121465530	121465530	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr12:121465530C>A	uc001tzj.1	-	3	754	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	OASL_uc001tzk.1_Intron	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	250					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCTCGTCTTCTTCAGTACCC	0.478000														38			21		4.26978e-12	4.47806e-12	0.083992	1	0
ABCA12	26154	broad.mit.edu	37	2	215840568	215840568	+	Silent	SNP	A	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:215840568A>G	uc002vew.3	-	33	5542	c.5322T>C	c.(5320-5322)taT>taC	p.Y1774Y	ABCA12_uc002vev.3_Silent_p.Y1456Y|ABCA12_uc010zjn.2_Silent_p.Y701Y	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1774					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAATCTCTGGATAACTGTTGC	0.453000														46			26		0	0	0.116897	0	0
KDM3B	51780	broad.mit.edu	37	5	137715373	137715373	+	Silent	SNP	T	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:137715373T>C	uc003lcy.1	+	4	881	c.681T>C	c.(679-681)cgT>cgC	p.R227R	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	227					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCATCACTCGTCTTATGGAGG	0.483000														53			30		0	0	0.153744	0	0
MAPK10	5602	broad.mit.edu	37	4	86950416	86950416	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr4:86950416T>C	uc003hps.3	-	12	1872	c.1186A>G	c.(1186-1188)Aag>Gag	p.K396E	MAPK10_uc010ikg.3_Missense_Mutation_p.K358E|MAPK10_uc003hpr.3_Missense_Mutation_p.K358E|MAPK10_uc003hpt.3_Missense_Mutation_p.K396E|MAPK10_uc003hpu.3_Missense_Mutation_p.K396E|MAPK10_uc003hpv.3_Missense_Mutation_p.K251E|MAPK10_uc003hpn.3_Missense_Mutation_p.K144E|MAPK10_uc011ccw.2_Missense_Mutation_p.K282E|MAPK10_uc003hpo.3_Missense_Mutation_p.K251E|MAPK10_uc003hpp.3_Missense_Mutation_p.K251E	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	396					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ATTACTTCCTTGTAGATAAGT	0.328000														32			35		0	0	0.074837	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129360	68129360	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr17:68129360G>A	uc002jiq.3	+	2	1368	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T	KCNJ16_uc002jin.3_Missense_Mutation_p.A378T|KCNJ16_uc002jio.3_Missense_Mutation_p.A378T|KCNJ16_uc002jip.3_Missense_Mutation_p.A378T|KCNJ16_uc021uch.1_Missense_Mutation_p.A378T	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	378					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TAGTGCAGTTGCCATTGTCAG	0.498000														39			39		0	0	0.086207	0	0
NEK7	140609	broad.mit.edu	37	1	198266319	198266319	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:198266319G>C	uc001gun.4	+	8	1074	c.747G>C	c.(745-747)aaG>aaC	p.K249N	NEK7_uc021pgx.1_Missense_Mutation_p.K249N	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	249	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TGTGTAAGAAGATAGAACAGT	0.378000														85			70		0	0	0.139131	0	0
CHD5	26038	broad.mit.edu	37	1	6204188	6204188	+	Silent	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:6204188G>A	uc001amb.2	-	11	1941	c.1830C>T	c.(1828-1830)taC>taT	p.Y610Y	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	610	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTTGATCAGGTAGTGCACAT	0.567000														66			69		0	0	0.139131	0	0
LAIR2	3904	broad.mit.edu	37	19	55019129	55019129	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:55019129T>A	uc002qgc.3	+	2	216	c.94T>A	c.(94-96)Tcg>Acg	p.S32T	LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.3_Missense_Mutation_p.S32T|LAIR2_uc010erl.3_Missense_Mutation_p.S32T	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA.	32	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACCCTCCATCTCGGCTGAGCC	0.577000														126			65		0	0	0.139131	0	0
GEMIN4	50628	broad.mit.edu	37	17	649344	649344	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr17:649344C>G	uc002frs.1	-	1	2058	c.1939G>C	c.(1939-1941)Gag>Cag	p.E647Q		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	647					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCGTCTGGCTCAAGAAGAGCA	0.488000														64			10		0	0	0.058154	0	0
AMOT	154796	broad.mit.edu	37	X	112022644	112022644	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chrX:112022644A>G	uc004epr.3	-	9	2756	c.2738T>C	c.(2737-2739)gTt>gCt	p.V913A	AMOT_uc004eps.3_Missense_Mutation_p.V504A|AMOT_uc011mtc.1_Missense_Mutation_p.V153A	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	913					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						agcaacagcaactggagcagc	0.632000														3			2		0	0	0.115264	0	0
TUB	7275	broad.mit.edu	37	11	8120419	8120419	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:8120419C>G	uc001mga.3	+	8	1262	c.1113C>G	c.(1111-1113)tgC>tgG	p.C371W	TUB_uc010rbk.2_Missense_Mutation_p.C377W|TUB_uc001mfy.3_Missense_Mutation_p.C426W	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	371					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CAGCTGTGTGCTACGTGAGTC	0.502000											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			33		0	0	0.144211	0	0
DMWD	1762	broad.mit.edu	37	19	46289265	46289265	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:46289265G>A	uc002pdj.1	-	2	1535	c.1489C>T	c.(1489-1491)Ccg>Tcg	p.P497S	DMWD_uc021uwc.1_Silent_p.S150S|DMWD_uc010eko.1_Missense_Mutation_p.P182S	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	497					meiosis			p.L496L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCTGGGTGCGGGAGACTGTTG	0.731000														8			7		0	0	0.029380	0	0
SRRM2	23524	broad.mit.edu	37	16	2816146	2816146	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr16:2816146C>G	uc002crk.3	+	10	6166	c.5617C>G	c.(5617-5619)Cac>Gac	p.H1873D	SRRM2_uc002crj.1_Missense_Mutation_p.H1777D|SRRM2_uc002crl.1_Missense_Mutation_p.H1873D|SRRM2_uc010bsu.1_Missense_Mutation_p.H1777D	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1873	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCCAGCCACTCACCGGCGATC	0.612000														41			18		0	0	0.055883	0	0
SLC45A2	51151	broad.mit.edu	37	5	33984558	33984558	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:33984558C>T	uc003jid.3	-	0	223	c.131G>A	c.(130-132)gGa>gAa	p.G44E	SLC45A2_uc003jie.3_Missense_Mutation_p.G44E|SLC45A2_uc003jif.4_Missense_Mutation_p.G44E|SLC45A2_uc011coe.1_Missense_Mutation_p.G44E	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	44					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GAACTCTCTTCCGAACATGGC	0.557000														17			9		0	0	0.069234	0	0
CTGF	1490	broad.mit.edu	37	6	132271489	132271489	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:132271489C>T	uc003qcz.3	-	2	690	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_001901	NP_001892	P29279	CTGF_HUMAN	Homo sapiens connective tissue growth factor (CTGF), mRNA.	162	VWFC.				DNA replication|cellular lipid metabolic process|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ACCCACTCCTCGCAGCATTTC	0.652000											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		96			69		0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179458757	179458757	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:179458757C>T	uc021vsy.1	-	245	50884	c.50659G>A	c.(50659-50661)Ggc>Agc	p.G16887S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G10582S|TTN_uc021vta.1_Missense_Mutation_p.G10515S|TTN_uc021vtb.1_Missense_Mutation_p.G10390S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17814	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTATTTGCCGGAATCTGAA	0.408000														297			51		0	0	0.139131	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188670	11188670	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr8:11188670C>T	uc003wtp.1	+	0	176	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	19						integral to membrane											CCCATCGCCGCCCTCCGCTCC	0.677000														35			23		0	0	0.091800	0	0
L1TD1	54596	broad.mit.edu	37	1	62672679	62672679	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:62672679G>C	uc021ooc.1	+	3	814	c.379G>C	c.(379-381)Ggt>Cgt	p.G127R	L1TD1_uc001dae.4_Missense_Mutation_p.G127R	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	127										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ctctaaaataggtgatgataa	0.308000														45			40		0	0	0.080422	0	0
SPOCK1	6695	broad.mit.edu	37	5	136328174	136328174	+	Splice_Site	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:136328174G>A	uc003lbo.3	-	6	897	c.706_splice	c.e6+1	p.R236_splice	SPOCK1_uc003lbp.3_Splice_Site_p.R236_splice	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	236					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGTCTTACTGCCTTGGGCTG	0.438000														61			40		0	0	0.104719	0	0
HMGA1	3159	broad.mit.edu	37	6	34210572	34210572	+	Splice_Site	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:34210572G>A	uc011dsp.2	+	3	357	c.219_splice	c.e3+1	p.R73_splice	HMGA1_uc003oit.3_Splice_Site_p.R73_splice|HMGA1_uc011dso.2_Intron|HMGA1_uc003oiv.3_Splice_Site_p.R62_splice|HMGA1_uc003oiw.3_Splice_Site_p.R62_splice|HMGA1_uc003oiu.3_Splice_Site_p.R73_splice|HMGA1_uc003oix.3_Splice_Site_p.R62_splice|HMGA1_uc003oiy.3_Splice_Site_p.R62_splice|HMGA1_uc003oiz.3_Splice_Site_p.R73_splice|HMGA1_uc003oja.3_Splice_Site_p.R62_splice|HMGA1_uc003ojc.3_Splice_Site_p.R62_splice|HMGA1_uc003ojd.3_Splice_Site_p.R61_splice	NM_145901	NP_665908	P17096	HMGA1_HUMAN	Homo sapiens high mobility group AT-hook 1 (HMGA1), transcript variant 3, mRNA.	73	Interaction with HIPK2 (By similarity).				DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration	chromatin|cytosol|transcription factor complex	AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity			lung(1)	1						CCAAGACCCGGGTGAGACTTG	0.592000			T	?	"""microfollicular thyroid adenoma,  various benign mesenchymal tumors,"""									6			2		0	0	0.115264	0	0
DLG5	9231	broad.mit.edu	37	10	79686110	79686110	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:79686110G>A	uc001jzk.3	-	0	239	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	LOC100128292_uc010qln.2_5'Flank	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	57					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGCAGCTTGAGCAGCAGCTCC	0.706000														5			4		0	0	0.150653	0	0
TMF1	7110	broad.mit.edu	37	3	69101211	69101211	+	Silent	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr3:69101211G>A	uc011bfx.2	-	0	274	c.27C>T	c.(25-27)ctC>ctT	p.L9L	TMF1_uc003dnn.3_Silent_p.L9L	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	9					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CGAAGCTGGAGAGCTGGGAGG	0.642000														65			45		0	0	0.139131	0	0
YES1	7525	broad.mit.edu	37	18	756694	756694	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr18:756694G>A	uc002kky.3	-	1	355	c.134C>T	c.(133-135)tCt>tTt	p.S45F	YES1_uc002kkz.3_Missense_Mutation_p.S45F	NM_005433	NP_005424	P07947	YES_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	45					T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CTTTGCTGAAGATGACGGACA	0.468000														172			27		0	0	0.134883	0	0
SOS2	6655	broad.mit.edu	37	14	50605361	50605361	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr14:50605361G>A	uc001wxs.4	-	17	3025	c.2927C>T	c.(2926-2928)cCt>cTt	p.P976L	SOS2_uc010tql.2_Missense_Mutation_p.P943L|SOS2_uc010tqm.1_Non-coding_Transcript	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	976	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TAAACAGTAAGGCTGATTCTG	0.308000														56			37		0	0	0.104719	0	0
SPIN1	10927	broad.mit.edu	37	9	91083448	91083448	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr9:91083448G>C	uc010mqj.3	+	4	1017	c.517G>C	c.(517-519)Gac>Cac	p.D173H	SPIN1_uc004apy.3_Missense_Mutation_p.D173H|SPIN1_uc004apz.3_Missense_Mutation_p.D173H|SPIN1_uc010mqk.3_Missense_Mutation_p.D173H	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	Homo sapiens spindlin 1 (SPIN1), mRNA.	173					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CTATGAGAAAGACCCTGTCTT	0.403000														104			7		0	0	0.058154	0	0
SASH1	23328	broad.mit.edu	37	6	148808752	148808752	+	Silent	SNP	C	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:148808752C>G	uc003qme.1	+	7	1105	c.630C>G	c.(628-630)ctC>ctG	p.L210L		NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	210							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGTTACAGCTCAAGGAATACG	0.488000														92			51		0	0	0.139131	0	0
ECSIT	51295	broad.mit.edu	37	19	11618829	11618829	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:11618829T>C	uc002msb.3	-	4	907	c.773A>G	c.(772-774)gAt>gGt	p.D258G	ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Missense_Mutation_p.D258G|ECSIT_uc010dyd.3_Missense_Mutation_p.D258G|ECSIT_uc010xma.2_Missense_Mutation_p.D44G	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	258					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CTGGGGGGGATCTGCTGCACC	0.577000														63			31		0	0	0.183431	0	0
HPR	3250	broad.mit.edu	37	16	72110948	72110948	+	Missense_Mutation	SNP	C	G	G	rs12646	by1000genomes	TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr16:72110948C>G	uc002fby.3	+	4	1045	c.1015C>G	c.(1015-1017)Cac>Gac	p.H339D	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	339	Peptidase S1.		H -> D (in dbSNP:rs12646).		proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	p.H339D(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TTCCATCCAGCACTGGGTTCA	0.542000														66			6		0	0	0.047766	0	0
CIT	11113	broad.mit.edu	37	12	120173153	120173153	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr12:120173153C>T	uc001txj.2	-	24	3024	c.2968G>A	c.(2968-2970)Gac>Aac	p.D990N	CIT_uc001txh.2_Missense_Mutation_p.D482N|CIT_uc001txi.2_Missense_Mutation_p.D948N	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	948					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCCTCCAGGTCTGTGATTACC	0.458000														57			39		0	0	0.080422	0	0
PROCR	10544	broad.mit.edu	37	20	33762617	33762617	+	Silent	SNP	A	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr20:33762617A>T	uc002xbt.3	+	1	367	c.183A>T	c.(181-183)ccA>ccT	p.P61P	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	61					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TGGAAGGCCCAGACACCAACA	0.622000														41			26		0	0	0.099896	0	0
HMGB2	3148	broad.mit.edu	37	4	174254775	174254775	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr4:174254775G>A	uc011ckc.1	-	0	146	c.26C>T	c.(25-27)cCg>cTg	p.P9L	HMGB2_uc003ita.3_Missense_Mutation_p.P9L|HMGB2_uc003itb.2_Missense_Mutation_p.P9L	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	9					DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTTGCCCCGCGGCTTGTTGGG	0.627000														36			38		0	0	0.069456	0	0
PRLR	5618	broad.mit.edu	37	5	35070231	35070231	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:35070231G>C	uc003jjm.3	-	6	1239	c.680C>G	c.(679-681)cCt>cGt	p.P227R	PRLR_uc003jjk.1_Missense_Mutation_p.P156R|PRLR_uc003jjg.2_Missense_Mutation_p.P227R|PRLR_uc003jjh.2_Missense_Mutation_p.P227R|PRLR_uc003jji.2_Missense_Mutation_p.P156R|PRLR_uc003jjj.2_Missense_Mutation_p.P227R|PRLR_uc003jjl.4_Missense_Mutation_p.P126R|PRLR_uc021xxl.1_Missense_Mutation_p.P227R|PRLR_uc010iuw.1_Missense_Mutation_p.P156R	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	227	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTCACCACTAGGTATCTGAAT	0.418000														27			17		0	0	0.175082	0	0
ASIC5	51802	broad.mit.edu	37	4	156763435	156763435	+	Silent	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr4:156763435G>A	uc003ipe.1	-	5	980	c.933C>T	c.(931-933)agC>agT	p.S311S		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	311						integral to membrane|plasma membrane											AACCAGAAGTGCTGTAGCTGC	0.418000														47			60		0	0	0.139131	0	0
ELP4	26610	broad.mit.edu	37	11	31561263	31561263	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:31561263A>G	uc001mtc.3	+	2	349	c.314A>G	c.(313-315)gAa>gGa	p.E105G	ELP4_uc001mtb.3_Missense_Mutation_p.E105G|ELP4_uc010rdz.2_Missense_Mutation_p.E105G			Q96EB1	ELP4_HUMAN	Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.	105					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|cytoplasm|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TTCCTGGCAGAAGGAATTGTC	0.338000														106			72		0	0	0.139131	0	0
MAGOHB	55110	broad.mit.edu	37	12	10766047	10766047	+	Silent	SNP	G	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr12:10766047G>T	uc001qyq.2	-	0	162	c.85C>A	c.(85-87)Cgg>Agg	p.R29R	MAGOHB_uc001qyr.2_Non-coding_Transcript	NM_018048	NP_060518	Q96A72	MGN2_HUMAN	Homo sapiens mago-nashi homolog B (Drosophila) (MAGOHB), mRNA.	29					RNA splicing|mRNA processing|mRNA transport	nucleus	RNA binding			breast(2)|large_intestine(2)	4						CCGTCCGGCCGAAATTCGAAC	0.617000														80			7		1.06961e-07	1.10384e-07	0.038147	1	0
HOOK2	29911	broad.mit.edu	37	19	12875721	12875721	+	Silent	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:12875721C>T	uc002muy.2	-	19	1905	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	HOOK2_uc002muz.2_Silent_p.R576R	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	578	Required for localization to the centrosome and induction of aggresome formation.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GCTCCTCGATCCGCCGGGCTG	0.632000											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			6		0	0	0.047766	0	0
AGBL1	123624	broad.mit.edu	37	15	87217502	87217502	+	Splice_Site	SNP	A	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr15:87217502A>G	uc002blz.1	+	22	3000	c.2920_splice	c.e22-2	p.G974_splice		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	974					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.?(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTTAACTGGCAGGGTCTACAG	0.478000														8			6		0	0	0.029380	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562884	11562884	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:11562884G>T	uc001ash.4	+	2	1384	c.1246G>T	c.(1246-1248)Gag>Tag	p.E416*	PTCHD2_uc001asi.1_Nonsense_Mutation_p.E416*	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	416					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.R416R(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGACCGCTGGGAGGAACAACG	0.567000														63			5		5.18039e-06	5.30373e-06	0.038147	1	0
PIP4K2A	5305	broad.mit.edu	37	10	23003187	23003187	+	Silent	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:23003187G>A	uc001irl.4	-	0	317	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	23							1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TCTGCGCTACGAAGTGCTTCT	0.647000														21			17		0	0	0.160694	0	0
F13A1	2162	broad.mit.edu	37	6	6196094	6196094	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:6196094G>A	uc003mwv.3	-	9	1364	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L	F13A1_uc011dib.2_Missense_Mutation_p.S351L	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	414					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGCTTGAACCGAGGCGGGGCC	0.502000														21			8		0	0	0.047766	0	0
TTN	7273	broad.mit.edu	37	2	179452053	179452053	+	Silent	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:179452053C>T	uc021vsy.1	-	255	56406	c.56181G>A	c.(56179-56181)ggG>ggA	p.G18727G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G12422G|TTN_uc021vta.1_Silent_p.G12355G|TTN_uc021vtb.1_Silent_p.G12230G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19654							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTTGGCTCCCACCGTCGT	0.468000														80			5		0	0	0.014758	0	0
OR52J3	119679	broad.mit.edu	37	11	5068082	5068082	+	Silent	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:5068082C>T	uc010qyv.2	+	0	327	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCATGCCTTCACTGGCATGG	0.502000														64			12		0	0	0.080935	0	0
LAMA4	3910	broad.mit.edu	37	6	112457351	112457351	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:112457351G>A	uc003pvu.2	-	24	3697	c.3388C>T	c.(3388-3390)Caa>Taa	p.Q1130*	LAMA4_uc003pvv.2_Nonsense_Mutation_p.Q1123*|LAMA4_uc003pvt.2_Nonsense_Mutation_p.Q1123*	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1130	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCATTAATTTGAGCTTTCTTT	0.368000														75			4		0	0	0.150653	0	0
SEPP1	6414	broad.mit.edu	37	5	42801313	42801313	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:42801313C>G	uc011cps.2	-	5	843	c.745G>C	c.(745-747)Ggc>Cgc	p.G249R	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Missense_Mutation_p.G219R|SEPP1_uc011cpu.2_Missense_Mutation_p.G219R|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	219	Poly-His.				response to oxidative stress	extracellular region	selenium binding	p.H249R(1)		kidney(10)|large_intestine(1)|lung(4)	15						TCACTGCTGCCAAGGTGCTGA	0.473000														58			40		0	0	0.098360	0	0
FAM178A	55719	broad.mit.edu	37	10	102683799	102683799	+	Silent	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:102683799C>T	uc001krs.3	+	4	1583	c.1041C>T	c.(1039-1041)agC>agT	p.S347S	FAM178A_uc001krr.1_Silent_p.S347S|FAM178A_uc001krt.4_Silent_p.S347S|FAM178A_uc001kru.1_Silent_p.S282S	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	347																	ATCTGAAAAGCACAAGAGAAT	0.343000														26			20		0	0	0.049695	0	0
MUC16	94025	broad.mit.edu	37	19	9087506	9087506	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:9087506C>T	uc002mkp.3	-	0	4513	c.4309G>A	c.(4309-4311)Gat>Aat	p.D1437N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1437	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGGGACATCAGAAGTTAGT	0.512000														123			12		0	0	0.080935	0	0
LCN1	3933	broad.mit.edu	37	9	138415819	138415819	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr9:138415819G>A	uc022bpk.1	+	3	446	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	LCN1_uc022bpj.1_Missense_Mutation_p.R129Q|LCN1_uc004cfz.2_Missense_Mutation_p.R129Q|LCN1_uc004cga.2_Missense_Mutation_p.R129Q	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	129					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AAGCCGGTCCGAGGGGTGAAG	0.642000														33			3		0	0	0.150653	0	0
ESX1	80712	broad.mit.edu	37	X	103499100	103499100	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chrX:103499100C>T	uc004ely.3	-	1	310	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	81					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGCTCCGGCTCGTGGCCGCCG	0.662000														180			29		0	0	0.134883	0	0
UNC13A	23025	broad.mit.edu	37	19	17750273	17750273	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:17750273A>T	uc021uqk.1	-	23	2957	c.2915T>A	c.(2914-2916)cTc>cAc	p.L972H		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	973					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GATGCTGGTGAGAAGGTCCAC	0.532000														18			7		0	0	0.038147	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697406	51697406	+	Silent	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr3:51697406C>T	uc011bdt.2	+	21	4499	c.4374C>T	c.(4372-4374)gaC>gaT	p.D1458D	RAD54L2_uc003dbh.3_Silent_p.D1047D|RAD54L2_uc011bdu.2_Silent_p.D1152D|RAD54L2_uc003dbj.3_Silent_p.D784D	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1458						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGGATAAAGACGATGATGTGA	0.562000														27			20		0	0	0.069288	0	0
ZFHX3	463	broad.mit.edu	37	16	72828734	72828734	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr16:72828734C>T	uc002fck.3	-	8	8520	c.7847G>A	c.(7846-7848)aGg>aAg	p.R2616K	ZFHX3_uc002fcl.3_Missense_Mutation_p.R1702K	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2616					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)				CTCCAGCTTCCTCTTGAGAGT	0.547000														230			168		0	0	0.139131	0	0
ZNF417	147687	broad.mit.edu	37	19	58420138	58420138	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:58420138G>C	uc002qqq.3	-	2	1707	c.1508C>G	c.(1507-1509)tCc>tGc	p.S503C	ZNF417_uc010yhm.2_Missense_Mutation_p.S460C|ZNF417_uc002qqr.3_Missense_Mutation_p.S502C	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CGCAGAGCTGGAAAGAAATGA	0.393000														160			4		0	0	0.150653	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625417	140625417	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:140625417G>C	uc003lje.3	+	0	271	c.271G>C	c.(271-273)Gac>Cac	p.D91H		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	91	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGAAGCTGGACCGGGAGAA	0.498000														74			7		0	0	0.029380	0	0
SPAG6	9576	broad.mit.edu	37	10	22676767	22676767	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:22676767G>T	uc001iri.3	+	5	861	c.694G>T	c.(694-696)Gct>Tct	p.A232S	SPAG6_uc010qct.2_Missense_Mutation_p.A207S|SPAG6_uc009xkh.3_Missense_Mutation_p.A210S|SPAG6_uc001irj.3_Missense_Mutation_p.A232S|SPAG6_uc021poe.1_Intron	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	232					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GATCCTTTCAGCTCTCAGTCA	0.373000														45			23		7.87624e-14	8.32816e-14	0.076483	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29496396	29496396	+	Silent	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr18:29496396C>T	uc002kxc.4	-	3	820	c.456G>A	c.(454-456)gcG>gcA	p.A152A	TRAPPC8_uc002kxb.4_Silent_p.A98A|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Silent_p.A152A|TRAPPC8_uc002kxe.2_Silent_p.A152A	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	152					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACTAGATGACGCTACCAACA	0.363000														51			3		0	0	0.115264	0	0
AIM1	202	broad.mit.edu	37	6	106968949	106968949	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:106968949A>T	uc003prh.3	+	1	3554	c.2642A>T	c.(2641-2643)gAg>gTg	p.E881V		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	881							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCCACGACTGAGGGTGCCCCG	0.478000														71			58		0	0	0.139131	0	0
REG1P	5969	broad.mit.edu	37	2	79364431	79364431	+	RNA	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:79364431G>A	uc002soa.1	-	2		c.179C>T			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		CTGGGCAGCTGATCTGGGCCT	0.507000														17			3		0	0	0.150653	0	0
AK7	122481	broad.mit.edu	37	14	96917831	96917831	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr14:96917831G>A	uc001yfn.2	+	9	1066	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	341					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTTAATATTCGATGGGCTGCC	0.393000														42			26		0	0	0.099896	0	0
OR4A16	81327	broad.mit.edu	37	11	55111508	55111508	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:55111508C>A	uc010rie.2	+	0	832	c.832C>A	c.(832-834)Ctc>Atc	p.L278I		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AATTATCACACTCATGTTGAA	0.323000														55			27		7.92952e-12	8.24926e-12	0.091800	1	0
ANK1	286	broad.mit.edu	37	8	41577342	41577342	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr8:41577342C>T	uc003xok.3	-	9	1028	c.944G>A	c.(943-945)gGa>gAa	p.G315E	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.G315E|ANK1_uc003xoj.3_Missense_Mutation_p.G315E|ANK1_uc003xol.3_Missense_Mutation_p.G315E|ANK1_uc003xom.3_Missense_Mutation_p.G348E	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	315	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAGGTGGTCTCCCTGAGCCGC	0.567000														77			49		0	0	0.139131	0	0
CPO	130749	broad.mit.edu	37	2	207833968	207833968	+	Silent	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr2:207833968G>C	uc002vby.2	+	8	979	c.933G>C	c.(931-933)ctG>ctC	p.L311L		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	311					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CGTTTGAGCTGAGGGACAGTG	0.512000														38			33		0	0	0.144211	0	0
BSCL2	26580	broad.mit.edu	37	11	62458109	62458109	+	Silent	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:62458109C>T	uc001nut.4	-	10	1817	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	LRRN4CL_uc001nun.3_5'Flank|LRRN4CL_uc021qkm.1_5'Flank|BSCL2_uc001nup.3_Silent_p.E339E|BSCL2_uc009yoc.2_3'UTR|BSCL2_uc001nur.4_Silent_p.E403E|BSCL2_uc009yod.3_Silent_p.E403E|HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001122955	NP_001116427	Q96G97	BSCL2_HUMAN	Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA.	339					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GCTCTAGCTCCTCTTCTCCGC	0.567000														79			60		0	0	0.139131	0	0
PCDH15	65217	broad.mit.edu	37	10	55583106	55583106	+	Silent	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:55583106G>C	uc010qhy.1	-	34	4796	c.4401C>G	c.(4399-4401)ctC>ctG	p.L1467L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.L1462L|PCDH15_uc021pqz.1_Silent_p.L1437L|PCDH15_uc010qhv.1_Silent_p.L1457L|PCDH15_uc010qhw.1_Silent_p.L1420L|PCDH15_uc010qhx.1_Silent_p.L1391L|PCDH15_uc010qhz.1_Silent_p.L1462L|PCDH15_uc010qia.1_Silent_p.L1440L|PCDH15_uc001jju.1_Silent_p.L1460L|PCDH15_uc010qib.1_Silent_p.L1437L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1460					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAAATGGTAGAGAAGGAAAA	0.363000										HNSCC(58;0.16)				58			8		0	0	0.058154	0	0
FPR2	2358	broad.mit.edu	37	19	52272650	52272650	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:52272650G>C	uc002pxr.3	+	1	784	c.739G>C	c.(739-741)Gtg>Ctg	p.V247L	FPR2_uc002pxs.4_Missense_Mutation_p.V247L|FPR2_uc010epf.3_Missense_Mutation_p.V247L|FPR2_uc021uyp.1_Missense_Mutation_p.V247L	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	247					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CACTGCTGTGGTGGCTTCTTT	0.483000														30			24		0	0	0.099896	0	0
BRSK2	9024	broad.mit.edu	37	11	1466527	1466527	+	Silent	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:1466527G>C	uc001ltm.3	+	9	1207	c.954G>C	c.(952-954)ggG>ggC	p.G318G	BRSK2_uc009ycv.1_Silent_p.G272G|BRSK2_uc001lth.1_Silent_p.G272G|BRSK2_uc001lti.3_Silent_p.G272G|BRSK2_uc001ltl.3_Silent_p.G272G|BRSK2_uc001ltj.3_Silent_p.G272G|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	272	UBA.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCCACAGAGGGGGCAAGAATG	0.692000														6			3		0	0	0.150653	0	0
GFRAL	389400	broad.mit.edu	37	6	55223928	55223928	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:55223928C>T	uc003pcm.1	+	5	1030	c.944C>T	c.(943-945)tCa>tTa	p.S315L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	315						integral to membrane	receptor activity	p.S315L(2)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAGAAAATCATGTTTCAGT	0.343000														68			9		0	0	0.047766	0	0
BC018860	0	broad.mit.edu	37	MT	6960	6960	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chrM:6960C>T	uc011mfh.2	+	0	1060	c.59C>T	c.(58-60)cCt>cTt	p.P20L	JA429830_uc022bqp.1_5'Flank|JA429831_uc022bqq.1_5'Flank|JA429505_uc022bqr.1_5'Flank|OK/SW-cl.16_uc011mfi.2_5'Flank					Homo sapiens cDNA: FLJ22894 fis, clone KAT04907.																		CCGTAGGTGGCCTGACTGGCA	0.458000														1			22		0	0	0.108266	0	0
NTRK1	4914	broad.mit.edu	37	1	156849153	156849153	+	Splice_Site	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:156849153G>A	uc001fqh.1	+	15	2102	c.2046_splice	c.e15+1	p.R682_splice	NTRK1_uc001fqf.1_Splice_Site_p.R646_splice|NTRK1_uc009wsi.1_Splice_Site_p.R381_splice|NTRK1_uc001fqi.1_Splice_Site_p.R676_splice|NTRK1_uc009wsk.1_Splice_Site_p.R679_splice	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	682	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GACTATTACCGTGTAAGGGTC	0.562000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				30			32		0	0	0.074837	0	0
VANGL1	81839	broad.mit.edu	37	1	116202267	116202267	+	Missense_Mutation	SNP	G	C	C	rs143990097		TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:116202267G>C	uc001efv.1	+	2	348	c.77G>C	c.(76-78)aGa>aCa	p.R26T	VANGL1_uc009wgy.1_Missense_Mutation_p.R26T|VANGL1_uc021ose.1_Missense_Mutation_p.R26T	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	26					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTCAGGGAAAGAACTAGAGAG	0.413000														151			7		0	0	0.038147	0	0
NOTCH3	4854	broad.mit.edu	37	19	15288375	15288375	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:15288375T>C	uc002nan.3	-	23	4440	c.4364A>G	c.(4363-4365)aAc>aGc	p.N1455S	NOTCH3_uc002nao.1_Missense_Mutation_p.N1403S	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1455					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCAGTCGAAGTTGTCGTAGAG	0.657000														7			4		0	0	0.150653	0	0
ZNF831	128611	broad.mit.edu	37	20	57766279	57766279	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr20:57766279G>A	uc002yan.3	+	0	205	c.205G>A	c.(205-207)Ggg>Agg	p.G69R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	69	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTGCCTCCCGGGGGCCTCCA	0.706000														11			9		0	0	0.058154	0	0
MAP2K5	5607	broad.mit.edu	37	15	67956981	67956981	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr15:67956981G>C	uc002aqu.3	+	12	1498	c.845G>C	c.(844-846)aGa>aCa	p.R282T	MAP2K5_uc002aqv.3_Missense_Mutation_p.R282T|MAP2K5_uc010ujw.2_Missense_Mutation_p.R246T|MAP2K5_uc002aqx.3_Missense_Mutation_p.R92T	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA.	282	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R282T(3)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						ATTTTACATAGAGGTATGTGC	0.333000														75			6		0	0	0.038147	0	0
RPS24	6229	broad.mit.edu	37	10	79796974	79796974	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr10:79796974A>G	uc001jzs.3	+	3	444	c.302A>G	c.(301-303)aAg>aGg	p.K101R	RPS24_uc010qlo.2_Missense_Mutation_p.K101R|RPS24_uc001jzp.3_Missense_Mutation_p.K101R|RPS24_uc001jzq.3_Missense_Mutation_p.K101R	NM_001142285	NP_001135757	P62847	RS24_HUMAN	Homo sapiens ribosomal protein S24 (RPS24), transcript variant d, mRNA.	101					endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			GAGAAGAAAAAGACCTCAAGA	0.428000														12			2		0	0	0.115264	0	0
RPL26L1	51121	broad.mit.edu	37	5	172396527	172396527	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr5:172396527G>A	uc003mcc.3	+	3	463	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	Homo sapiens ribosomal protein L26-like 1 (RPL26L1), mRNA.	141					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAACTTATTGAGAAAATGCA	0.398000														77			7		0	0	0.038147	0	0
AX747261	0	broad.mit.edu	37	9	99884245	99884245	+	RNA	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr9:99884245G>A	uc004aww.1	-	1		c.1549C>T								Homo sapiens cDNA FLJ34611 fis, clone KIDNE2014112.																		CACTCCGAGCGCAGCCGTGGG	0.597000														10			9		0	0	0.093190	0	0
TMPPE	643853	broad.mit.edu	37	3	33135655	33135655	+	Silent	SNP	C	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr3:33135655C>T	uc003cfk.2	-	1	245	c.33G>A	c.(31-33)gcG>gcA	p.A11A	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron|TMPPE_uc021wux.1_Silent_p.A11A	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	11						integral to membrane	metal ion binding	p.A11A(2)|p.A11T(1)		breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGGTGGCCTTCGCGCCTAGGG	0.587000														63			5		0	0	0.021553	0	0
LMTK2	22853	broad.mit.edu	37	7	97823560	97823560	+	Silent	SNP	C	T	T	rs150501122		TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr7:97823560C>T	uc003upd.2	+	10	4076	c.3783C>T	c.(3781-3783)atC>atT	p.I1261I		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1261					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGCCGGACATCGAAGGGAAGT	0.602000														21			17		0	0	0.160694	0	0
ZNF844	284391	broad.mit.edu	37	19	12187704	12187704	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:12187704G>A	uc002mtb.2	+	3	1912	c.1769G>A	c.(1768-1770)aGt>aAt	p.S590N	ZNF844_uc010dym.1_Missense_Mutation_p.S433N	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AATGTAAAGAGTGTGACAAAG	0.398000														3			3		0	0	0.115264	0	0
F8	2157	broad.mit.edu	37	X	154130375	154130375	+	Silent	SNP	G	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chrX:154130375G>T	uc004fmt.3	-	18	6237	c.6066C>A	c.(6064-6066)ggC>ggA	p.G2022G	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2022	F5/8 type A 3.|Plastocyanin-like 6.		G -> D (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTAGATGCTCGCCAATAAGGC	0.433000														52			57		1.48341e-19	1.58149e-19	0.139131	1	0
TNS3	64759	broad.mit.edu	37	7	47440438	47440438	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr7:47440438G>A	uc003tnw.3	-	13	1155	c.797C>T	c.(796-798)gCt>gTt	p.A266V	TNS3_uc010kyo.1_3'UTR	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	266	C2 tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCCCTGCACAGCCCCAGTGTG	0.577000														52			37		0	0	0.064281	0	0
SLC13A3	64849	broad.mit.edu	37	20	45204227	45204227	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr20:45204227C>A	uc002xsf.2	-	9	1357	c.1317G>T	c.(1315-1317)atG>atT	p.M439I	SLC13A3_uc010ghn.2_Missense_Mutation_p.M408I|SLC13A3_uc010zxx.2_Missense_Mutation_p.M341I|SLC13A3_uc010zxw.2_Missense_Mutation_p.M389I|SLC13A3_uc002xsg.2_Missense_Mutation_p.M392I|SLC13A3_uc010gho.2_Missense_Mutation_p.M357I|SLC13A3_uc010zxv.2_Intron	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	439						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGCCTTTGGCCATGGCGAAGC	0.632000														8			7		0.00198382	0.00199932	0.029380	1	0
POMGNT1	55624	broad.mit.edu	37	1	46662703	46662704	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr1:46662703_46662704delGA	uc001cpg.3	-	2	824_825	c.173_174delTC	c.(172-174)atcfs	p.I58fs	POMGNT1_uc010olx.2_Frame_Shift_Del_p.I36fs|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_5'UTR|POMGNT1_uc001cpe.3_Frame_Shift_Del_p.I58fs|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cpj.3_Frame_Shift_Del_p.I58fs	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	58					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GAGTGTCCAGGATCAACTTGAT	0.550													---	163	---	---	97	---					
ODZ3	55714	broad.mit.edu	37	4	183664509	183664515	+	Frame_Shift_Del	DEL	GCGATTT	-	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr4:183664509_183664515delGCGATTT	uc003ivd.1	+	17	3641_3647	c.3566_3572delGCGATTT	c.(3565-3573)ggcgatttcfs	p.G1189fs	ODZ3_uc003ive.1_Frame_Shift_Del_p.G595fs	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1189					signal transduction	integral to membrane		p.G1189G(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTGTACGTAGGCGATTTCAACTATGTG	0.473													---	51	---	---	19	---					
ZNF318	24149	broad.mit.edu	37	6	43320114	43320114	+	Splice_Site	DEL	C	-	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr6:43320114delC	uc003oux.3	-	5	2848	c.2770_splice	c.e5+1	p.G924_splice	ZNF318_uc003ouw.3_Splice_Site	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	924					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCAGCTGATACCTTGTTGTTT	0.418													---	38	---	---	30	---					
RAB6A	5870	broad.mit.edu	37	11	73418504	73418504	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:73418504delA	uc001ouf.3	-	5	977	c.456delT	c.(454-456)tttfs	p.F152fs	RAB6A_uc021qnd.1_Frame_Shift_Del_p.F119fs|RAB6A_uc001oue.3_Frame_Shift_Del_p.F152fs|RAB6A_uc009yts.3_Intron	NM_198896	NP_942599	P20340	RAB6A_HUMAN	Homo sapiens RAB6A, member RAS oncogene family (RAB6A), transcript variant 2, mRNA.	152					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	Golgi membrane|cytoplasmic vesicle|cytosol|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						TAGTTTCAATAAACATAACAT	0.348													---	72	---	---	51	---					
USP28	57646	broad.mit.edu	37	11	113679118	113679119	+	Frame_Shift_Ins	INS	-	TG	TG	rs2465647	byFrequency	TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr11:113679118_113679119insTG	uc001poh.3	-	17	2238_2239	c.2205_2206insCA	c.(2203-2208)tcgtctfs	p.S735fs	USP28_uc001pog.3_Frame_Shift_Ins_p.S443fs|USP28_uc010rwy.2_Frame_Shift_Ins_p.S610fs|USP28_uc001poi.3_Frame_Shift_Ins_p.S90fs	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	735					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCATGCTCAGACGACAAGCAGC	0.470													---	88	---	---	54	---					
MLL2	8085	broad.mit.edu	37	12	49434210	49434210	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr12:49434210delT	uc001rta.4	-	30	7343	c.7343delA	c.(7342-7344)gacfs	p.D2448fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2448	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGAATAAGGGTCAGGGGACTG	0.612			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			---	45	---	---	31	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													---	51	---	---	12	---					
DSC3	1825	broad.mit.edu	37	18	28576918	28576918	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr18:28576918delT	uc002kwj.4	-	14	2487	c.2332delA	c.(2332-2334)accfs	p.T778fs	DSC3_uc002kwi.4_Frame_Shift_Del_p.T778fs	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	778					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATTTCAATGGTTTCCTGCCCT	0.502													---	39	---	---	22	---					
PCSK4	54760	broad.mit.edu	37	19	1489873	1489873	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:1489873delA	uc002ltb.1	-	1	275	c.213delT	c.(211-213)tttfs	p.F71fs	PCSK4_uc002lta.2_5'UTR|REEP6_uc010xgp.2_5'Flank|REEP6_uc002ltc.3_5'Flank	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	71					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GCCGCAGGTGAAAGTACTGCC	0.692													---	10	---	---	7	---					
NAPSA	9476	broad.mit.edu	37	19	50862007	50862007	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr19:50862007delA	uc002prx.3	-	8	1119	c.1066delT	c.(1066-1068)tccfs	p.S356fs	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	356					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TGGAAACCGGACAAGCAGAGG	0.632													---	11	---	---	11	---					
DIDO1	11083	broad.mit.edu	37	20	61510808	61510808	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr20:61510808delT	uc002ydr.2	-	15	6812	c.6500delA	c.(6499-6501)aagfs	p.K2167fs	DIDO1_uc002yds.2_Frame_Shift_Del_p.K2167fs	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2167	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					gtcccactccttgccccgGTC	0.726													---	5	---	---	4	---					
PLXNB2	23654	broad.mit.edu	37	22	50719301	50719302	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BQ-5878-01A-11D-1589-08	TCGA-BQ-5878-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01600b4b-cddc-41a5-b541-326677217bc2	0d002eab-1f4e-4846-b2cc-25aae886715d	g.chr22:50719301_50719302insT	uc003bkv.4	-	23	3957_3958	c.3864_3865insA	c.(3862-3867)ccctccfs	p.P1288fs	PLXNB2_uc003bkt.1_Frame_Shift_Ins_p.P80fs|PLXNB2_uc003bku.1_Frame_Shift_Ins_p.P273fs	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1288					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTCCTTGGAGGGCAGGAAGA	0.629													---	28	---	---	13	---					
