Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LIPC	3990	broad.mit.edu	37	15	58855814	58855814	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr15:58855814C>T	uc010bga.2	+	9	1888	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	LIPC_uc010bfz.1_Missense_Mutation_p.A427V|LIPC_uc002afa.2_Missense_Mutation_p.A427V|LIPC_uc010bgb.1_Missense_Mutation_p.A325V|LIPC_uc010ugy.2_Missense_Mutation_p.A366V	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	427	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCAGTGTGGGCCAATGTCTGG	0.507000													6	83					0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971107	45971107	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr21:45971107A>G	uc002zfi.1	-	0	282	c.235T>C	c.(235-237)Tgc>Cgc	p.C79R	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	79	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						TGCTGGCAGCACGAGGGCGTG	0.692000													6	220					0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88454494	88454494	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr14:88454494T>A	uc001xvt.3	-	2	429	c.322A>T	c.(322-324)Aca>Tca	p.T108S	GALC_uc010tvy.2_Missense_Mutation_p.T85S|GALC_uc010tvx.2_Missense_Mutation_p.T82S|GALC_uc010tvz.1_Missense_Mutation_p.T52S|GALC_uc001xvu.2_Missense_Mutation_p.T108S	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	108					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTACCTGTTGTCTGCCCATCA	0.358000													15	30					0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69230521	69230521	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr12:69230521T>C	uc021rad.1	+	8	1063	c.589T>C	c.(589-591)Tcc>Ccc	p.S197P	MDM2_uc001sui.3_Missense_Mutation_p.S304P|MDM2_uc009zqx.3_Missense_Mutation_p.S249P|MDM2_uc021rae.1_Missense_Mutation_p.S246P|MDM2_uc001sun.4_Missense_Mutation_p.S123P|MDM2_uc009zra.3_Intron|MDM2_uc021raf.1_5'UTR|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_5'UTR|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Missense_Mutation_p.S98P|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Intron|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Missense_Mutation_p.S268P|MDM2_uc021rai.1_5'UTR|MDM2_uc021raj.1_Intron			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	298	Interaction with MTBP (By similarity).|Interaction with PYHIN1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|cellular response to hypoxia|establishment of protein localization|interspecies interaction between organisms|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCCTGAAATTTCCTTAGCTGT	0.308000			A		"""sarcoma, glioma, colorectal, other"""								26	41					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999933	72999933	+	Silent	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:72999933G>A	uc002lly.3	+	1	2999	c.2436G>A	c.(2434-2436)acG>acA	p.T812T	TSHZ1_uc021uln.1_Silent_p.T812T	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	857						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGTCCTCCACGCCCTCCACAG	0.602000													4	57					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563737	55563737	+	Missense_Mutation	SNP	C	C	T	rs145440752	byFrequency	TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:55563737C>T	uc010rim.2	+	0	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R236H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTTAGTGGGCGCCACAAAGC	0.463000													32	52					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:29625875T>C	uc010ztl.1	+	1	61	c.29T>C	c.(28-30)aTc>aCc	p.I10T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I40T(4)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													3	41					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10394873	10394873	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:10394873G>A	uc002mnq.2	+	3	1121	c.802G>A	c.(802-804)Gac>Aac	p.D268N	ICAM1_uc010xle.1_Missense_Mutation_p.D46N|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	268	Ig-like C2-type 3.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CTATGGCAACGACTCCTTCTC	0.632000													26	42					0	0	1	0	0
SOCS1	8651	broad.mit.edu	37	16	11349039	11349039	+	Silent	SNP	G	G	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:11349039G>T	uc021tcz.1	-	0	297	c.297C>A	c.(295-297)ggC>ggA	p.G99G	RMI2_uc002daq.1_Intron|SOCS1_uc002dar.1_Silent_p.G99G	NM_003745	NP_003736	O15524	SOCS1_HUMAN	Homo sapiens suppressor of cytokine signaling 1 (SOCS1), mRNA.	99	SH2.				JAK-STAT cascade|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity	p.D63_Q108del(2)|p.Y64fs*1(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						CCAGGAAGGTGCCCACGGGCT	0.706000			"""F, O"""		"""Hodgkin Lymphoma, PMBL"""								3	10					1	1	1	1	0
CPA2	1358	broad.mit.edu	37	7	129929564	129929564	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr7:129929564C>G	uc003vpq.3	+	10	1256	c.1237C>G	c.(1237-1239)Cat>Gat	p.H413D		NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	413					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	p.R413P(1)|p.R413L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AATCATGGAGCATGTGCGAGA	0.512000													4	103					0	0	1	0	0
WASH7P	653635	broad.mit.edu	37	1	14976	14976	+	RNA	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:14976G>A	uc009vis.3	-	2		c.369C>T			WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Intron|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA.																		CTACCCTTGCGCCTCATGACC	0.582000													5	24					0	0	1	0	0
CCL11	6356	broad.mit.edu	37	17	32612839	32612839	+	Silent	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:32612839C>T	uc002hia.1	+	0	153	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_002986	NP_002977	P51671	CCL11_HUMAN	Homo sapiens chemokine (C-C motif) ligand 11 (CCL11), mRNA.	4					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TGAAGGTCTCCGCAGCACTTC	0.597000													12	207					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95530133	95530133	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr8:95530133C>T	uc003ygo.2	-	9	2622	c.2551G>A	c.(2551-2553)Gca>Aca	p.A851T	KIAA1429_uc003ygp.3_Missense_Mutation_p.A851T|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	851					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGTATGCATGCGTAATTATAA	0.318000													8	12					0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70405049	70405049	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr5:70405049C>T	uc003kat.1	-	0	2815	c.1549G>A	c.(1549-1551)Gac>Aac	p.D517N	DQ570835_uc021yai.1_Non-coding_Transcript	NM_022892	NP_075043	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 2, mRNA.	905	NACHT.				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TCTGGGTGGTCGAAAAAGTAC	0.418000													9	138					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419969	19419969	+	RNA	SNP	T	T	C	rs76149397		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr13:19419969T>C	uc010tcj.1	-	0		c.26141A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GACAAATTCATTGGTTTAGTT	0.303000													4	26					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115216305	115216305	+	Silent	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:115216305G>A	uc001efe.2	-	14	2187	c.2139C>T	c.(2137-2139)tgC>tgT	p.C713C	AMPD1_uc001eff.2_Silent_p.C709C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	680					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTGCCACTTCGCACATATCAC	0.438000													36	33					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71002871	71002871	+	Silent	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr12:71002871C>T	uc001swb.4	-	1	333	c.303G>A	c.(301-303)gaG>gaA	p.E101E	PTPRB_uc010sto.2_Silent_p.E101E|PTPRB_uc010stp.2_Silent_p.E101E|PTPRB_uc001swc.4_Silent_p.E319E|PTPRB_uc001swa.4_Silent_p.E319E|PTPRB_uc001swd.4_Silent_p.E318E|PTPRB_uc009zrr.2_Silent_p.E198E|PTPRB_uc001swe.3_Silent_p.E319E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	101	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACTGTTCTCTCTTCATCCA	0.463000													5	120					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131214292	131214292	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:131214292C>G	uc004ewn.3	-	9	1086	c.908G>C	c.(907-909)gGa>gCa	p.G303A	FRMD7_uc022cdy.1_Missense_Mutation_p.G183A|FRMD7_uc011muy.2_Missense_Mutation_p.G288A	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	303					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGGGTTCGTCCACTATCATA	0.373000													3	12					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222803484	222803484	+	Silent	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:222803484C>G	uc001hnl.3	+	3	2931	c.2922C>G	c.(2920-2922)gtC>gtG	p.V974V	MIA3_uc009xea.1_Silent_p.V810V	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	974					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.V974fs*4(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGGAAAAAGTCCTAGATAAGG	0.428000													19	24					0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51858176	51858176	+	Silent	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:51858176G>A	uc010xdt.2	-	3	321	c.321C>T	c.(319-321)tcC>tcT	p.S107S		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	107	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AGTCTCGAGGGGAAATGGAGC	0.368000													3	63					0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33862232	33862232	+	Silent	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:33862232C>T	uc002xbu.2	+	8	1761	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	586					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCAGGACGACGTGGACATCA	0.657000													90	131					0	0	1	0	0
GALNTL1	57452	broad.mit.edu	37	14	69813836	69813836	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr14:69813836G>A	uc001xlb.2	+	12	1678	c.1351G>A	c.(1351-1353)Ggt>Agt	p.G451S	GALNTL1_uc001xla.2_Missense_Mutation_p.G451S|GALNTL1_uc010aqu.2_Missense_Mutation_p.G451S	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	451	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GAACACAGCTGGTGACTTCCT	0.587000											OREG0022763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	81					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28409944	28409944	+	Silent	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:28409944C>T	uc002het.3	+	17	3654	c.3462C>T	c.(3460-3462)taC>taT	p.Y1154Y	EFCAB5_uc010cse.3_Silent_p.Y909Y|EFCAB5_uc010csf.3_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1154							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTATCACTACGTCCACAGCC	0.398000													23	143					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33567544	33567544	+	Silent	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:33567544G>A	uc002xbi.2	+	6	722	c.405G>A	c.(403-405)acG>acA	p.T135T	MYH7B_uc010gfa.1_Silent_p.T93T	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	93	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCATGATGACGCACCTGAACG	0.637000													47	71					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084077	152084077	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:152084077C>G	uc009wne.1	-	2	1888	c.1616G>C	c.(1615-1617)aGa>aCa	p.R539T	TCHH_uc001ezp.2_Missense_Mutation_p.R539T	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	539	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCGCGTCTTAGTTGTTG	0.652000													15	241					0	0	1	0	0
FAM192A	80011	broad.mit.edu	37	16	57206707	57206707	+	Silent	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:57206707G>A	uc021tiy.1	-	2	466	c.207C>T	c.(205-207)taC>taT	p.Y69Y	FAM192A_uc021tiz.1_Silent_p.Y69Y|FAM192A_uc021tja.1_Non-coding_Transcript	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	Homo sapiens family with sequence similarity 192, member A (FAM192A), mRNA.	69						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						ACTGTTCCTCGTACTCCTGCT	0.468000													42	46					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr22:18844888A>G	uc002zoe.3	+	3		c.2142A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCTCACGGAAATACAGCTTCA	0.587000													4	72					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7023260	7023260	+	Silent	SNP	C	C	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:7023260C>A	uc002knm.3	-	18	2698	c.2604G>T	c.(2602-2604)ggG>ggT	p.G868G	LAMA1_uc010wzj.2_Silent_p.G344G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	868	Laminin EGF-like 8.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G868G(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGGCACTCCCCGGTGACTG	0.602000													32	39					1.26612e-14	1.32455e-14	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								23	41					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561111	44561111	+	Silent	SNP	T	T	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:44561111T>G	uc002lcr.1	-	0	878	c.525A>C	c.(523-525)acA>acC	p.T175T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	175					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGGGGAGCTGTGCGCGTTG	0.687000													4	65					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	48098819	48098819	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:48098819C>G	uc002xur.1	-	0	365	c.199G>C	c.(199-201)Gac>Cac	p.D67H	KCNB1_uc002xus.1_Missense_Mutation_p.D67H	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	67					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCAGCGAGTCGTGCGTGTTG	0.662000													5	44					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24995840	24995840	+	Silent	SNP	T	T	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:24995840T>C	uc001bjm.3	+	13	2190	c.1966T>C	c.(1966-1968)Tta>Cta	p.L656L	SRRM1_uc010oel.2_Silent_p.L668L|SRRM1_uc009vrh.1_Silent_p.L629L|SRRM1_uc009vri.1_Silent_p.L585L	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	656	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	p.L656S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TTCACCTTCATTATCATCCAA	0.567000													3	53					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140946550	140946550	+	Silent	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:140946550C>G	uc004cog.3	+	24	3862	c.3717C>G	c.(3715-3717)tcC>tcG	p.S1239S	CACNA1B_uc022bqn.1_Silent_p.S1239S|CACNA1B_uc011mfd.2_Silent_p.S840S|CACNA1B_uc004coi.3_Silent_p.S453S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1239					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTAGAGGATCCAAAGGGAAAG	0.582000													8	15					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351668	89351668	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:89351668G>C	uc002fmx.1	-	8	1743	c.1282C>G	c.(1282-1284)Ctc>Gtc	p.L428V	ANKRD11_uc002fmy.1_Missense_Mutation_p.L428V|ANKRD11_uc002fnc.1_Missense_Mutation_p.L428V|ANKRD11_uc002fnb.1_Missense_Mutation_p.L385V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	428						nucleus		p.L428L(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTGCCGAGAGTCTCAGCTTC	0.488000													8	100					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108852	147108852	+	Silent	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:147108852G>C	uc011bno.2	-	3	1206	c.1020C>G	c.(1018-1020)cgC>cgG	p.R340R	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Silent_p.R220R|ZIC4_uc021xff.1_Silent_p.R328R|ZIC4_uc003ewd.2_Silent_p.R290R|ZIC4_uc021xfg.1_Silent_p.R84R	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	290						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCGGCGGCGAGCGCCCGTGCA	0.667000													5	108					0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1979554	1979554	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:1979554A>G	uc002lul.4	+	8	1436	c.914A>G	c.(913-915)tAt>tGt	p.Y305C	CSNK1G2_uc010dsu.3_Missense_Mutation_p.Y257C	NM_001319	NP_001310	P78368	KC1G2_HUMAN	Homo sapiens casein kinase 1, gamma 2 (CSNK1G2), mRNA.	305	Protein kinase.				Wnt receptor signaling pathway|sphingolipid metabolic process	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		AAGCCCGACTATGACTACCTG	0.652000													35	46					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161569181	161569181	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr5:161569181G>T	uc010jjc.3	+	7	1259	c.901G>T	c.(901-903)Gtc>Ttc	p.V301F	GABRG2_uc003lyy.4_Missense_Mutation_p.V261F|GABRG2_uc003lyz.4_Missense_Mutation_p.V261F|GABRG2_uc011dej.2_Missense_Mutation_p.V166F	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	261					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.V261F(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AGATTATGTGGTCATGTCTGT	0.403000													33	77					1.32136e-16	1.42622e-16	1	1	0
MMP20	9313	broad.mit.edu	37	11	102465488	102465488	+	Splice_Site	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:102465488C>G	uc001phc.3	-	7	967	c.954_splice	c.e7-1	p.R318_splice		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	318	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCCAGAAAATCCTATGGGACA	0.418000													15	18					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838050	92838050	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr7:92838050C>G	uc011khy.2	-	4	947	c.924G>C	c.(922-924)agG>agC	p.R308S	HEPACAM2_uc003uml.3_Missense_Mutation_p.R273S|HEPACAM2_uc010lff.3_Missense_Mutation_p.R273S|HEPACAM2_uc003umm.3_Missense_Mutation_p.R285S	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	285	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TATTGTCAGTCCTCCTAATCC	0.443000													26	23					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22360149	22360149	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:22360149C>G	uc001mqk.3	+	0	483	c.70C>G	c.(70-72)Ctc>Gtc	p.L24V		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	24					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.S23L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGAAAATCACTCGGCCAGAT	0.473000													9	26					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904175	21904175	+	RNA	SNP	T	T	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:21904175T>A	uc002gza.2	+	0		c.114T>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ggaagcagcgtggcatcccag	0.682000													6	220					0	0	1	0	0
ZNF460	10794	broad.mit.edu	37	19	57802257	57802257	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:57802257G>C	uc002qog.2	+	2	670	c.348G>C	c.(346-348)gaG>gaC	p.E116D	ZNF460_uc010ygv.1_Missense_Mutation_p.E75D	NM_006635	NP_006626	Q14592	ZN460_HUMAN	Homo sapiens zinc finger protein 460 (ZNF460), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACAGAGTGAGAAACTCCATG	0.473000													37	53					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696406	69696406	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr4:69696406G>C	uc003hee.3	+	5	1421	c.1396G>C	c.(1396-1398)Gtc>Ctc	p.V466L	UGT2B10_uc011cam.2_Missense_Mutation_p.V382L	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	466					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GATTGAATTTGTCATGCGCCA	0.438000													11	188					0	0	1	0	0
VAX2	25806	broad.mit.edu	37	2	71148309	71148309	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:71148309C>T	uc002shh.3	+	1	361	c.329C>T	c.(328-330)aCt>aTt	p.T110I		NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA.	110					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						ACATCCTTCACTGCCGAGCAG	0.622000													4	76					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140958726	140958726	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr5:140958726C>G	uc003llb.4	-	8	1003	c.862G>C	c.(862-864)Gag>Cag	p.E288Q	DIAPH1_uc003llc.4_Missense_Mutation_p.E279Q|DIAPH1_uc021yep.1_Missense_Mutation_p.E288Q|DIAPH1_uc021yeq.1_Missense_Mutation_p.E279Q	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	288	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCCATCTCAGCTCTTTCT	0.473000													5	226					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88035546	88035546	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr4:88035546C>A	uc011ccz.2	+	11	1836	c.1561C>A	c.(1561-1563)Cag>Aag	p.Q521K	AFF1_uc003hqj.4_Missense_Mutation_p.Q514K|AFF1_uc003hqk.4_Missense_Mutation_p.Q514K|AFF1_uc011cda.2_Missense_Mutation_p.Q152K	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	514						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAACAAATGGCAGCTGGACAA	0.512000													7	21					2.0095e-06	2.07039e-06	1	1	0
AKAP8	10270	broad.mit.edu	37	19	15472624	15472624	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:15472624C>G	uc002nav.3	-	10	1382	c.1312G>C	c.(1312-1314)Gta>Cta	p.V438L	AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Missense_Mutation_p.V252L	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	438					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTTCTGTTTACAATGTATTCC	0.458000													3	31					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73502705	73502705	+	Silent	SNP	G	G	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:73502705G>T	uc002joc.3	-	6	1126	c.576C>A	c.(574-576)ccC>ccA	p.P192P	CASKIN2_uc010wsc.2_Silent_p.P110P|CASKIN2_uc002jod.3_Silent_p.P192P	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	192						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAAGTGCAGGGGCGTGGTGT	0.622000													5	150					0.000602214	0.000611203	1	1	0
VHL	7428	broad.mit.edu	37	3	10191622	10191622	+	Silent	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:10191622C>T	uc003bvc.3	+	2	828	c.615C>T	c.(613-615)cgC>cgT	p.R205R	VHL_uc003bvd.3_Silent_p.R164R	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	205					anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.I206fs*10(2)|p.E204G(1)|p.E204D(1)|p.R205fs*>9(1)|p.E204K(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACAGGAGCGCATTGCACATC	0.468000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				13	16					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183086809	183086809	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:183086809G>A	uc001gpy.4	+	9	2085	c.1828G>A	c.(1828-1830)Gct>Act	p.A610T		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	610	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCTTGATCGCTCAGGGCAA	0.483000													4	77					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:7578203C>A	uc002gim.2	-	5	840	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	TP53_uc002gig.1_Missense_Mutation_p.V216L|TP53_uc002gih.3_Missense_Mutation_p.V216L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84L|TP53_uc010cnf.1_Missense_Mutation_p.V84L|TP53_uc002gii.1_Missense_Mutation_p.V84L|TP53_uc010cni.1_Missense_Mutation_p.V216L|TP53_uc010cnh.1_Missense_Mutation_p.V216L|TP53_uc002gij.2_Missense_Mutation_p.V216L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123L|TP53_uc002gio.2_Missense_Mutation_p.V84L|TP53_uc010vug.2_Missense_Mutation_p.V177L|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACCACCACACTATGTCGA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	26					1.77063e-15	1.8813e-15	1	1	0
AMIGO1	57463	broad.mit.edu	37	1	110050585	110050585	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:110050585G>C	uc021org.1	-	0	950	c.950C>G	c.(949-951)aCa>aGa	p.T317R	AMIGO1_uc001dxx.4_Missense_Mutation_p.T317R	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	317	Ig-like C2-type.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CACACTCACTGTGCCATTGGT	0.512000													7	158					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1779285	1779285	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr10:1779285G>C	uc009xhq.3	-	0	386	c.60C>G	c.(58-60)tgC>tgG	p.C20W		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	20					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCTTGGACTTGCATTTGAGTT	0.701000													44	231					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285491	16285491	+	Silent	SNP	C	C	T	rs16962973		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:16285491C>T	uc002gpx.3	+	1	408	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_uc010vwe.1_Intron|UBB_uc021tqs.1_Silent_p.T90T	NM_018955	NP_061828	P0CG47	UBB_HUMAN	Homo sapiens ubiquitin B (UBB), mRNA.	90	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.I89I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552000													4	99					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:7578265A>T	uc002gim.2	-	5	778	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_uc002gig.1_Missense_Mutation_p.I195N|TP53_uc002gih.3_Missense_Mutation_p.I195N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63N|TP53_uc010cnf.1_Missense_Mutation_p.I63N|TP53_uc002gii.1_Missense_Mutation_p.I63N|TP53_uc010cni.1_Missense_Mutation_p.I195N|TP53_uc010cnh.1_Missense_Mutation_p.I195N|TP53_uc002gij.2_Missense_Mutation_p.I195N|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102N|TP53_uc002gio.2_Missense_Mutation_p.I63N|TP53_uc010vug.2_Missense_Mutation_p.I156N|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCACTCGGATAAGATGCTG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	42					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419995	19419995	+	RNA	SNP	C	C	G	rs78291036	by1000genomes	TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr13:19419995C>G	uc010tcj.1	-	0		c.26115G>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GAACTAAGAACAGTTAGATAA	0.294000													3	15					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228306	21228306	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:21228306C>G	uc002red.3	-	25	11562	c.11434G>C	c.(11434-11436)Gag>Cag	p.E3812Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3812					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACGGTTATCTCAAAAAAGGGA	0.423000													59	72					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41197999	41197999	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:41197999C>G	uc002oor.2	-	14	1878	c.1576G>C	c.(1576-1578)Gac>Cac	p.D526H	NUMBL_uc010xvq.2_5'Flank|NUMBL_uc010xvr.2_5'Flank|NUMBL_uc002oon.3_5'Flank|NUMBL_uc002ooo.3_5'Flank|ADCK4_uc002oop.1_Missense_Mutation_p.D203H|ADCK4_uc002ooq.2_Missense_Mutation_p.D485H	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	526						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GTGGCTGCGTCTGGCTGGCGA	0.672000													13	18					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101109585	101109585	+	Missense_Mutation	SNP	C	C	G	rs148450316		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr15:101109585C>G	uc002bwg.3	-	6	2355	c.2132G>C	c.(2131-2133)aGa>aCa	p.R711T	LINS_uc002bwd.3_Missense_Mutation_p.R298T	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	711										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTTTACTATTCTGTAAAATAT	0.383000													6	80					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131929091	131929091	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr6:131929091C>T	uc003qcs.1	-	11	1372	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	MED23_uc003qcq.3_Missense_Mutation_p.D406N|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Missense_Mutation_p.D406N|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	400					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TATAGCAAGTCGAAGAGCTTC	0.343000													16	21					0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117568099	117568099	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:117568099G>A	uc004bjh.3	-	0	310	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	65					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTGCACACAGGCCTCTCCCTG	0.602000													14	64					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73502707	73502707	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:73502707G>C	uc002joc.3	-	6	1124	c.574C>G	c.(574-576)Ccc>Gcc	p.P192A	CASKIN2_uc010wsc.2_Missense_Mutation_p.P110A|CASKIN2_uc002jod.3_Missense_Mutation_p.P192A	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	192						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGTGCAGGGGCGTGGTGTAG	0.622000													5	151					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113139603	113139603	+	Silent	SNP	G	G	C			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:113139603G>C	uc010mtz.3	-	44	10789	c.10452C>G	c.(10450-10452)cgC>cgG	p.R3484R	SVEP1_uc010mty.3_Silent_p.R1410R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3484					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGCATTTGGGCGTTGGCAGA	0.502000													25	55					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147090673	147090673	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:147090673delC	uc001epq.3	+	7	1452	c.712delC	c.(712-714)cccfs	p.P238fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.P164fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	238	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCCACAACAGCCCCCAGCTCC	0.517			T	"""IGH@, IGL@"""	B-ALL								8	469	---	---	---	---					
YEATS2	55689	broad.mit.edu	37	3	183493803	183493805	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:183493803_183493805delAGG	uc003fly.2	+	17	2664_2666	c.2469_2471delAGG	c.(2467-2472)acagga>aca	p.G828del	YEATS2_uc003flz.3_5'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	828	Gly-rich.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			gcggcagcacaggaggaggagga	0.601													7	48	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388622	1388623	+	Frame_Shift_Ins	INS	-	-	CA	rs79704405	byFrequency	TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr4:1388622_1388623insCA	uc003gdf.2	+	0	3283_3284	c.323_324insCA	c.(322-324)ctcfs	p.L108fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	108					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.L108H(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACGTGCCCAT	0.668													9	1059	---	---	---	---					
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr5:156378745_156378747delTTG	uc003lwh.2	-	2	512_514	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_uc010jii.2_In_Frame_Del_p.T152del	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													7	477	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493762	77493767	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr14:77493762_77493767delTGCTGC	uc001xsy.3	-	0	1268_1273	c.369_374delGCAGCA	c.(367-375)cagcagcaa>caa	p.123_125QQQ>Q		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein-like (IRF2BPL), mRNA.	123	Poly-Gln.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GAgctgttgttgctgctgctgctgct	0.714													5	3	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:69782978_69782980delTCC	uc002exs.3	-	5	583_585	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													10	148	---	---	---	---					
TFPT	29844	broad.mit.edu	37	19	54611378	54611379	+	Frame_Shift_Ins	INS	-	-	CCATC			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:54611378_54611379insCCATC	uc010yej.1	-	4	1002_1003	c.596_597insGATGG	c.(595-597)ggafs	p.G199fs		NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.	199					DNA recombination|DNA repair|apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTGCTCGGCGTCCATCCCGTGG	0.713			T	TCF3	pre-B ALL								30	153	---	---	---	---					
GFRA4	64096	broad.mit.edu	37	20	3644008	3644010	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:3644008_3644010delCAG	uc002wio.3	-	0	37_39	c.37_39delCTG	c.(37-39)ctgdel	p.L15del	GFRA4_uc002win.3_In_Frame_Del_p.L15del|GFRA4_uc002wip.1_In_Frame_Del_p.L15del	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	15						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CACCCAGTAACAGCAGCAGCAGC	0.621													7	37	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939914	76939915	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:76939914_76939915delAG	uc004ecp.4	-	8	1065_1066	c.833_834delCT	c.(832-834)actfs	p.T278fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.T240fs|ATRX_uc004eco.4_Frame_Shift_Del_p.T63fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.T239fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.T278fs|ATRX_uc010nly.1_Frame_Shift_Del_p.T223fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	278	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGTTACATGCAGTGACCAAGTC	0.371			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						70	21	---	---	---	---					
PLXNA3	55558	broad.mit.edu	37	X	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:153688564_153688565insG	uc004flm.3	+	1	214_215	c.41_42insG	c.(40-42)gtgfs	p.V14fs		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683													7	72	---	---	---	---					
