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
ARHGEF10	9639	broad.mit.edu	37	8	1871979	1871979	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr8:1871979G>A	ENST00000518288.1	+	22	2662	c.2499G>A	c.(2497-2499)acG>acA	p.T833T	ARHGEF10_ENST00000349830.3_Silent_p.T809T|ARHGEF10_ENST00000520359.1_Silent_p.T771T|ARHGEF10_ENST00000262112.6_Silent_p.T834T|ARHGEF10_ENST00000398564.1_Silent_p.T834T			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	834					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGTTCAATACGTTCACCCCTG	0.517000													15	62					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55512217	55512217	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:55512217G>A	ENST00000302118.5	+	3	711	c.421G>A	c.(421-423)Gac>Aac	p.D141N	PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.D141N	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	141					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCCCCATGTCGACTACATCGA	0.602000													33	48					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44953734	44953734	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:44953734T>A	ENST00000393461.2	+	4	777	c.724T>A	c.(724-726)Tat>Aat	p.Y242N	WNT9B_ENST00000290015.2_Missense_Mutation_p.Y242N			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	242					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAAACTGCGCTATGACTCGGC	0.647000													37	46					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121724124	121724124	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:121724124C>T	ENST00000273691.3	-	3	451	c.346G>A	c.(346-348)Gat>Aat	p.D116N	ILDR1_ENST00000344209.5_Missense_Mutation_p.D116N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D128N|ILDR1_ENST00000393631.1_Missense_Mutation_p.D116N	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	116	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGCCGGTAATCTACCCCCAGC	0.652000													13	26					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920290	58920290	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:58920290T>G	ENST00000528737.1	+	5	3967	c.1149T>G	c.(1147-1149)tgT>tgG	p.C383W	FAM111A_ENST00000361723.3_Missense_Mutation_p.C383W|FAM111A_ENST00000420244.1_Missense_Mutation_p.C383W|FAM111A_ENST00000531147.1_Missense_Mutation_p.C383W|FAM111A_ENST00000533703.1_Missense_Mutation_p.C383W			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	383					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTTTAACTTGTCGGCATGTAA	0.428000													14	86					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039779	2039779	+	Silent	SNP	G	G	A	rs113070757	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642000													4	29					0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176832137	176832137	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:176832137T>C	ENST00000253496.3	-	6	495	c.447A>G	c.(445-447)atA>atG	p.I149M		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	149	Fibronectin type-I.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTATACCATATCTCATTCT	0.552000									Hereditary Angioedema				18	35					0	0	1	0	0
LIPT1	51601	broad.mit.edu	37	2	99778887	99778887	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:99778887T>C	ENST00000393477.3	+	4	819	c.467T>C	c.(466-468)cTt>cCt	p.L156P	MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.L156P|LIPT1_ENST00000393473.2_Missense_Mutation_p.L156P|LIPT1_ENST00000393474.3_Missense_Mutation_p.L156P|LIPT1_ENST00000340066.1_Missense_Mutation_p.L156P	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	156					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	GACCTTTTACTTGATGGACAG	0.413000													10	58					0	0	1	0	0
COL6A2	0	broad.mit.edu	37	21	47552223	47552223	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr21:47552223C>T	ENST00000300527.4	+	28	2921	c.2817C>T	c.(2815-2817)caC>caT	p.H939H		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	939	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCGGAGGCACGCAGAGCTGT	0.657000													13	17					0	0	1	0	0
VPS4B	9525	broad.mit.edu	37	18	61067363	61067363	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr18:61067363A>C	ENST00000238497.5	-	7	911	c.708T>G	c.(706-708)atT>atG	p.I236M	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	236					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AGAGAGAATCAATTTCATCAA	0.343000													26	26					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47452431	47452431	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:47452431C>G	ENST00000265562.4	+	20	3220	c.3143C>G	c.(3142-3144)cCa>cGa	p.P1048R	PTPN23_ENST00000431726.1_Missense_Mutation_p.P922R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1048	His.|Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCATCCCCCACTGGCATAT	0.672000													24	28					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136323151	136323151	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:136323151C>T	ENST00000383202.2	-	4	553	c.297_splice	c.e4+1	p.Q99_splice	STAG1_ENST00000236698.5_Splice_Site_p.Q99_splice|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Splice_Site_p.Q99_splice	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	99					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TAAAATTTACCTGCATTGCAC	0.403000													43	48					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48190668	48190668	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr18:48190668C>T	ENST00000400384.2	+	2	1376	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	MAPK4_ENST00000587823.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.R114C|MAPK4_ENST00000588540.1_Missense_Mutation_p.R114C|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	114	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.R114C(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGACCTGGCACGCCTGCTGGA	0.612000													44	55					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117491980	117491980	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:117491980G>A	ENST00000393203.2	+	4	1146	c.999G>A	c.(997-999)cgG>cgA	p.R333R		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	333	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGTTGGCGCGGCTTGACCGTG	0.577000													42	54					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13865875	13865875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:13865875G>T	ENST00000265104.4	-	27	4361	c.4257C>A	c.(4255-4257)taC>taA	p.Y1419*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1419	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGACACTGTTGTACAGAGTAT	0.353000									Kartagener syndrome				21	19					8.10497e-08	8.62452e-08	1	1	0
ARPP21	10777	broad.mit.edu	37	3	35778809	35778809	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:35778809G>A	ENST00000187397.4	+	16	2055	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	ARPP21_ENST00000458225.1_Silent_p.Q499Q|ARPP21_ENST00000337271.5_Silent_p.Q479Q|ARPP21_ENST00000417925.1_Silent_p.Q499Q|ARPP21_ENST00000444190.1_Silent_p.Q479Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	533	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCCAACAGCAGGTCCAGCCAC	0.647000													21	30					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292206	62292206	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:62292206A>G	ENST00000378024.4	-	5	9957	c.9683T>C	c.(9682-9684)cTt>cCt	p.L3228P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3228					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGGCCTTTAAGATTGAGGTC	0.408000													99	68					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120213506	120213506	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:120213506G>A	ENST00000450251.1	+	15	2906	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	USP53_ENST00000274030.6_Missense_Mutation_p.E788K			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	788					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACATGTACATGAAGACAATGG	0.328000													11	12					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95514946	95514946	+	RNA	SNP	C	C	T	rs143937878	by1000genomes	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:95514946C>T	ENST00000432432.2	-	0	711					NR_040113.1													p.R201Q(1)									ACTACTGTACCGTCTCAGCCT	0.308000													4	82					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48385799	48385799	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:48385799C>A	ENST00000264313.6	+	6	1776	c.1358C>A	c.(1357-1359)gCc>gAc	p.A453D	SLAIN2_ENST00000512093.1_Missense_Mutation_p.A260D	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	453						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CAGGCTTCAGCCAGTAAGTAT	0.353000													6	12					0.00116845	0.00118269	1	1	0
TP53	7157	broad.mit.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7577498C>T	ENST00000420246.2	-	7	915		c.e7+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(29)|p.0?(8)|p.E258fs*71(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)		TGGCTCCTGACCTGGAGTCTT	0.572000		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	55					0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2934121	2934121	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:2934121C>T	ENST00000314531.4	-	4	1096	c.1004G>A	c.(1003-1005)tGt>tAt	p.C335Y		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACGAGTAACAAGTGAACGC	0.488000													26	7					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135080618	135080618	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr7:135080618C>T	ENST00000428680.2	-	9	1167	c.888G>A	c.(886-888)acG>acA	p.T296T	CNOT4_ENST00000361528.4_Silent_p.T296T|CNOT4_ENST00000414802.1_Silent_p.T299T|CNOT4_ENST00000423368.2_Silent_p.T299T|CNOT4_ENST00000451834.1_Silent_p.T296T|CNOT4_ENST00000541284.1_Silent_p.T299T|CNOT4_ENST00000315544.5_Silent_p.T299T|CNOT4_ENST00000356162.4_Silent_p.T299T	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	299					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTGGTGAAGGCGTATCACTGT	0.368000													12	33					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132180094	132180094	+	Silent	SNP	A	A	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:132180094A>C	ENST00000374786.1	+	5	1229	c.750A>C	c.(748-750)tcA>tcC	p.S250S	NTM_ENST00000374791.3_Silent_p.S250S|NTM_ENST00000374784.1_Silent_p.S250S|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Silent_p.S250S|NTM_ENST00000427481.2_Silent_p.S241S|NTM_ENST00000539799.1_Silent_p.S250S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	250	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAGTCCCCTCAGCAGAATTCC	0.507000													76	78					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121260219	121260219	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:121260219T>A	ENST00000264233.5	-	3	579	c.451A>T	c.(451-453)Aaa>Taa	p.K151*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	151	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCTTCTCTTTAGCCACAGAA	0.358000								DNA polymerases (catalytic subunits)					47	54					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527731	65527731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr8:65527731C>T	ENST00000310193.3	-	4	1082	c.909G>A	c.(907-909)tgG>tgA	p.W303*	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	303					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATACATTGCCCAGAACATAG	0.443000													4	41					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269308	150269308	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr7:150269308C>T	ENST00000255945.2	+	3	325	c.150C>T	c.(148-150)atC>atT	p.I50I	GIMAP4_ENST00000461940.1_Silent_p.I64I|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	50							GTP binding	p.I50>?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAACAGCATCCTTGGCCGGA	0.478000													19	29					0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20185863	20185863	+	Silent	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrX:20185863T>C	ENST00000379565.3	-	17	1653	c.1446A>G	c.(1444-1446)gtA>gtG	p.V482V	RPS6KA3_ENST00000544447.1_Silent_p.V454V|RPS6KA3_ENST00000379548.4_Silent_p.V452V|RPS6KA3_ENST00000540702.1_Silent_p.V453V|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	482	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CATCATCATATACCTATAAAT	0.274000													3	44					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46397946	46397946	+	Splice_Site	SNP	C	C	T	rs146211585	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:46397946C>T	ENST00000454345.1	+	24	2849	c.2725_splice	c.e24+1	p.D908_splice	DGKZ_ENST00000318201.8_Splice_Site_p.D697_splice|DGKZ_ENST00000343674.6_Splice_Site_p.D736_splice|DGKZ_ENST00000532868.2_Splice_Site_p.D724_splice|DGKZ_ENST00000395574.3_Splice_Site_p.D686_splice|DGKZ_ENST00000456247.2_Splice_Site_p.D719_splice|DGKZ_ENST00000528615.1_Splice_Site_p.D498_splice|DGKZ_ENST00000543978.1_Splice_Site_p.D72_splice|DGKZ_ENST00000421244.2_Splice_Site_p.D720_splice|DGKZ_ENST00000527911.1_Splice_Site_p.D720_splice	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	908					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCTTCCTGGACGGTGAGTCTA	0.612000													38	103					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19284178	19284178	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:19284178C>A	ENST00000308406.5	+	4	1042	c.656C>A	c.(655-657)aCt>aAt	p.T219N	MAPK7_ENST00000395604.3_Missense_Mutation_p.T219N|MAPK7_ENST00000299612.7_Missense_Mutation_p.T80N|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.T219N	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	219	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|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|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TACTTCATGACTGAGTATGTG	0.527000													4	71					0.00024832	0.000257632	1	1	0
CDK20	23552	broad.mit.edu	37	9	90584735	90584735	+	Silent	SNP	G	G	A	rs113461285		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:90584735G>A	ENST00000375883.3	-	5	906	c.600C>T	c.(598-600)ggC>ggT	p.G200G	CDK20_ENST00000325303.8_Silent_p.G221G|CDK20_ENST00000605159.1_Silent_p.G200G|CDK20_ENST00000375871.4_Intron|CDK20_ENST00000336654.5_Silent_p.G213G	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	221	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						GGTTTGGGGTGCCCAAGATGC	0.577000													43	50					0	0	1	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033580	26033580	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr6:26033580C>T	ENST00000259791.2	-	1	216	c.217G>A	c.(217-219)Gac>Aac	p.D73N		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	73					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TTCTTGTTGTCGCGGGCCGCA	0.647000													54	54					0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70120195	70120195	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:70120195G>A	ENST00000245479.2	+	3	1569	c.1197G>A	c.(1195-1197)acG>acA	p.T399T		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	399					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACATCAAGACGGAGCAGCTGA	0.682000													10	175					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118109480	118109480	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrX:118109480T>G	ENST00000365713.2	+	1	900	c.737T>G	c.(736-738)cTc>cGc	p.L246R	LONRF3_ENST00000304778.7_Missense_Mutation_p.L246R|LONRF3_ENST00000371628.3_Missense_Mutation_p.L246R			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	246					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCGTCGCAACTCCGGCACGAG	0.687000													10	0					0	0	1	0	0
RP11-262H14.1	0	broad.mit.edu	37	9	66466226	66466226	+	RNA	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:66466226A>G	ENST00000424345.1	+	0	859																											cctagcggagagagagccgga	0.453000													3	7					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124339330	124339330	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr10:124339330C>A	ENST00000368909.3	+	10	1022	c.916C>A	c.(916-918)Cat>Aat	p.H306N	DMBT1_ENST00000368955.3_Missense_Mutation_p.H306N|DMBT1_ENST00000344338.3_Missense_Mutation_p.H306N|DMBT1_ENST00000368956.2_Missense_Mutation_p.H306N|DMBT1_ENST00000330163.4_Missense_Mutation_p.H306N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.H306N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	306	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGCTCAGGACATGAGTCCTA	0.607000													6	127					0.00307968	0.00307968	1	1	0
SNX29P2	0	broad.mit.edu	37	16	29339943	29339943	+	RNA	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr16:29339943G>A	ENST00000398878.3	+	0	931																											GCAGGACAGCGAGGTGAGTCA	0.607000													4	2					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40286039	40286039	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:40286039G>A	ENST00000302541.6	+	13	2545	c.2203G>A	c.(2203-2205)Gcg>Acg	p.A735T	MYRIP_ENST00000425621.1_Missense_Mutation_p.A670T|MYRIP_ENST00000396217.3_Missense_Mutation_p.A646T|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.A548T|MYRIP_ENST00000444716.1_Missense_Mutation_p.A735T	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	735	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GACCCATCTGGCGGATCTGGA	0.607000													23	24					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562648	32562648	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr14:32562648C>A	ENST00000345122.3	+	2	3088	c.2773C>A	c.(2773-2775)Cat>Aat	p.H925N	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H925N	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	925					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCTCAGTATCATCGGCAAAC	0.323000													21	17					3.62473e-10	3.95859e-10	1	1	0
TP53	7157	broad.mit.edu	37	17	7578382	7578382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7578382G>C	ENST00000420246.2	-	5	680	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	183	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(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)		ATCGCTATCTGAGCAGCGCTC	0.647000		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)			48	40					0	0	1	0	0
CLCNKA	0	broad.mit.edu	37	1	16357051	16357051	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:16357051C>G	ENST00000375692.1	+	16	1632	c.1504C>G	c.(1504-1506)Ctg>Gtg	p.L502V	CLCNKA_ENST00000439316.2_Missense_Mutation_p.L459V|CLCNKA_ENST00000420078.1_Missense_Mutation_p.L502V|CLCNKA_ENST00000331433.4_Missense_Mutation_p.L502V|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	502					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACTGCCCGTGCTGATGGCGGT	0.617000													14	78					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101295475	101295475	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:101295475G>T	ENST00000538618.1	+	4	410	c.410G>T	c.(409-411)cGg>cTg	p.R137L	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATCCATCAACGGCGAAGTGTG	0.502000										HNSCC(74;0.22)			44	26					1.52319e-26	1.68566e-26	1	1	0
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403000	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			39	10					0	0	1	0	0
RABL6	55684	broad.mit.edu	37	9	139726296	139726296	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:139726296C>A	ENST00000371675.3	+	6	1122	c.237C>A	c.(235-237)ttC>ttA	p.F79L	RABL6_ENST00000357466.2_Missense_Mutation_p.F194L|RABL6_ENST00000311502.7_Missense_Mutation_p.F194L|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Missense_Mutation_p.F156L|RABL6_ENST00000371663.4_Missense_Mutation_p.F194L|RABL6_ENST00000371671.4_Missense_Mutation_p.F194L					RAB, member RAS oncogene family-like 6																		TGCGTGACTTCATCGACAACC	0.672000													12	16					4.3838e-07	4.60577e-07	1	1	0
NOVA1	4857	broad.mit.edu	37	14	26949251	26949251	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr14:26949251C>T	ENST00000539517.2	-	3	696	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	NOVA1_ENST00000344429.5_Missense_Mutation_p.V127M|NOVA1_ENST00000547619.1_Missense_Mutation_p.V127M|NOVA1_ENST00000465357.2_Missense_Mutation_p.V127M|NOVA1_ENST00000574031.1_Missense_Mutation_p.V127M|NOVA1_ENST00000267422.7_Missense_Mutation_p.V5M	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	130					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GTCTTGGCCACATTTTGGGGC	0.438000													13	48					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207679361	207679361	+	Silent	SNP	C	C	T	rs142605009	by1000genomes	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:207679361C>T	ENST00000367049.4	+	2	234	c.234C>T	c.(232-234)tcC>tcT	p.S78S	CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_Silent_p.S78S|CR1_ENST00000367051.1_Silent_p.S78S|CR1_ENST00000367052.1_Silent_p.S78S|CR1_ENST00000400960.2_Silent_p.S78S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	78	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGGTTATTCCGGAAGACCGT	0.483000													15	132					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039776	2039776	+	Silent	SNP	A	A	G	rs13296987	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:2039776A>G	ENST00000382203.1	+	4	875	c.666A>G	c.(664-666)caA>caG	p.Q222Q	SMARCA2_ENST00000349721.2_Silent_p.Q222Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q222Q|SMARCA2_ENST00000382194.1_Silent_p.Q222Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	222	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcaacagcagcagc	0.637000													4	31					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85656053	85656053	+	Silent	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:85656053A>G	ENST00000341460.5	-	2	1177	c.1128T>C	c.(1126-1128)ccT>ccC	p.P376P		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	376					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CATCATCCTCAGGAATGGGAT	0.418000													8	16					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6697558	6697558	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:6697558A>G	ENST00000309577.6	-	23	3534	c.3371T>C	c.(3370-3372)cTt>cCt	p.L1124P	CHD4_ENST00000544040.1_Missense_Mutation_p.L1117P|CHD4_ENST00000544484.1_Missense_Mutation_p.L1121P|CHD4_ENST00000357008.2_Missense_Mutation_p.L1124P			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1124	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCGAGTGGAAAGCAAGAAGCA	0.428000													17	54					0	0	1	0	0
MALAT1	0	broad.mit.edu	37	11	65270254	65270254	+	RNA	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:65270254G>A	ENST00000534336.1	+	0	5022					NR_002819.2																						GCATAACCCTGAGATTCTTAC	0.348000													6	11					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66356251	66356251	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:66356251G>A	ENST00000273854.3	-	5	1846	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	EPHA5_ENST00000511294.1_Missense_Mutation_p.P416S|EPHA5_ENST00000354839.4_Missense_Mutation_p.P416S|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	416	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTTGCCGGGGAAGGTACCTG	0.498000										TSP Lung(17;0.13)			10	42					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55792098	55792098	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:55792098A>T	ENST00000272313.5	-	12	2087	c.1760T>A	c.(1759-1761)tTc>tAc	p.F587Y	SMEK2_ENST00000345102.5_Missense_Mutation_p.F672Y|SMEK2_ENST00000407823.3_Missense_Mutation_p.F640Y	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	672						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAATCCTTTGAATGTCTGAAC	0.313000													6	15					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976497	38976497	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:38976497C>T	ENST00000355481.4	+	34	5333	c.5202C>T	c.(5200-5202)atC>atT	p.I1734I	RYR1_ENST00000360985.3_Silent_p.I1734I|RYR1_ENST00000359596.3_Silent_p.I1734I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1734	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAATACATCGTGCCCCTCA	0.632000													48	56					0	0	1	0	0
MT-CO1	4512	broad.mit.edu	37	MT	7273	7273	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrM:7273G>A	ENST00000361624.2	+	1	1370	c.1370G>A	c.(1369-1371)gGc>gAc	p.457_457insD						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ATCATCTGTAGGCTCATTCAT	0.428000													36	209					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58448922	58448922	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr20:58448922G>A	ENST00000357552.3	-	35	3769	c.3544C>T	c.(3544-3546)Cca>Tca	p.P1182S	SYCP2_ENST00000371001.2_Missense_Mutation_p.P1182S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1182					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAAAACAGTGGTCGTGGAATT	0.338000													9	27					0	0	1	0	0
FAM153A	285596	broad.mit.edu	37	5	177156485	177156485	+	Splice_Site	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:177156485C>G	ENST00000440605.3	-	16	986		c.e16+1		FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Splice_Site|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A											kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGACTTTACCATGTGAACC	0.443000													28	124					0	0	1	0	0
CBX5	23468	broad.mit.edu	37	12	54645939	54645939	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:54645939A>T	ENST00000209875.4	-	3	346	c.210T>A	c.(208-210)taT>taA	p.Y70*	CBX5_ENST00000550411.1_Nonsense_Mutation_p.Y70*|CBX5_ENST00000439541.2_Nonsense_Mutation_p.Y70*	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	70	Chromo 1.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TCATCTTCTTATACTTTTTCA	0.363000													14	59					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	111					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5137981	5137981	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:5137981A>C	ENST00000159111.4	+	18	2668	c.2450A>C	c.(2449-2451)cAc>cCc	p.H817P	KDM4B_ENST00000536461.1_Missense_Mutation_p.H851P	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	817					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGTGGATCCACGTGATCTGT	0.672000													5	13					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347283	48347283	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:48347283C>G	ENST00000319856.4	+	1	812	c.791C>G	c.(790-792)aCc>aGc	p.T264S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCCCTCTCCACCTGTGGAGCC	0.458000													46	39					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1563260	1563260	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:1563260C>T	ENST00000572621.1	-	30	5086	c.4821G>A	c.(4819-4821)gaG>gaA	p.E1607E	PRPF8_ENST00000304992.6_Silent_p.E1607E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1607						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTTGTACTGTCTCAATTTCCA	0.413000													10	106					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158298715	158298715	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:158298715G>A	ENST00000368168.3	-	5	1083	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	326					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACTCACCGGCGCCTCATATAC	0.378000													13	40					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27801239	27801239	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:27801239C>T	ENST00000408964.2	+	1	1851	c.1800C>T	c.(1798-1800)atC>atT	p.I600I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	600										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTTCAAATCGTAAAATCTG	0.393000													12	17					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953959	56953959	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:56953959C>G	ENST00000504904.3	-	7	1124	c.405G>C	c.(403-405)aaG>aaC	p.K135N	ZNF667_ENST00000292069.6_Missense_Mutation_p.K135N|ZNF667_ENST00000342634.3_Missense_Mutation_p.K263N|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AATGCCCTTTCTTAGGTTTTA	0.393000													47	50					0	0	1	0	0
FBXW7	0	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								55	71					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6710697	6710697	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:6710697C>T	ENST00000309577.6	-	6	721		c.e6-1		CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AATGAGGGGTCTGGTGGAGAA	0.438000													130	125					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73613273	73613273	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:73613273delC	ENST00000264448.6	+	1	388	c.277delC	c.(277-279)ccfs	p.P94fs	ALMS1_ENST00000377715.1_Frame_Shift_Del_p.P94fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.P94fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	94					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCCGCTGTCGCCCCCGCAGCA	0.701													2	4	---	---	---	---					
AC093838.7	0	broad.mit.edu	37	2	132405729	132405730	+	RNA	INS	-	-	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:132405729_132405730insG	ENST00000431979.1	+	0	2154																											TTCCCGCACACGTGGTGGCAAA	0.535													2	4	---	---	---	---					
TFP1	0	broad.mit.edu	37	3	133423292	133423292	+	RNA	DEL	A	A	-			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:133423292delA	ENST00000460564.1	+	0	381																											GAGCTAGTAGAAAAAAAAAGT	0.383													2	4	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589269	67589270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:67589269_67589270insT	ENST00000521381.1	+	10	1873_1874	c.1257_1258insT	c.(1255-1260)aatggafs	p.G420fs	PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.G420fs|PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.G57fs|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.G150fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.G120fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.G420fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.G420fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	420	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ATAATCCCAAATTGGATGTGAA	0.347			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			12	14	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589588	67589620	+	In_Frame_Del	DEL	GAATATAACACTCAGTTTCAAGAAAAAAGTCGA	GAATATAACACTCAGTTTCAAGAAAAAAGTCGA	-	rs17852841		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:67589588_67589620delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	ENST00000521381.1	+	11	1967_1999	c.1351_1383delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	c.(1351-1383)del	p.EYNTQFQEKSR451del	PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYNTQFQEKSR88del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYNTQFQEKSR181del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYNTQFQEKSR151del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYNTQFQEKSR451del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	451			E -> K (in dbSNP:rs17852841).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N453_T454insN(3)|p.H450_E451del(2)|p.Y452_Q455>SGGSRIK(1)|p.Y152N(1)|p.F456_R461>S(1)|p.E451_Y452delEY(1)|p.T454_Q455>Q(1)|p.T454I(1)|p.E462_R465delEYDR(1)|p.Y452N(1)|p.R461*(1)|p.Q187P(1)|p.Q157P(1)|p.453_454insN(1)|p.K459del(1)|p.K459_S460>N(1)|p.?(1)|p.Q457P(1)|p.Q457_R461del(1)|p.S460fs*5(1)|p.T454_D464del(1)|p.G446_Y452>VI(1)|p.E458*(1)|p.0?(1)|p.K459E(1)|p.Q455K(1)|p.F456_R461del(1)|p.Y182N(1)|p.E451_Y452del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAATTACATGAATATAACACTCAGTTTCAAGAAAAAAGTCGAGAATATGATA	0.270			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			7	32	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)del	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					7	10	---	---	---	---					
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)gggcgg>ggGGCgcgg	p.21_22GR>GAR		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	549					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738													8	18	---	---	---	---					
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868216	+	RNA	DEL	GT	GT	-	rs113592903		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:110868215_110868216delGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgt	0.490													2	4	---	---	---	---					
AC124997.1	0	broad.mit.edu	37	15	25804996	25804996	+	RNA	DEL	C	C	-			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr15:25804996delC	ENST00000422117.1	-	0	167																											CCTGTTGGTGCCCGTGCTCCT	0.587													2	4	---	---	---	---					
GOLGA8O	728047	broad.mit.edu	37	15	32743123	32743125	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr15:32743123_32743125delCTT	ENST00000509311.2	-	8	677_679	c.580_582delAAG	c.(580-582)del	p.K194del	GOLGA8O_ENST00000414865.2_Intron	NM_001277308.1	NP_001264237.1			golgin A8 family, member O																		CCTGGTTTGCCTTCTTCTTCTCT	0.562													3	4	---	---	---	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgt>cg	p.RR591del	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													10	527	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11065298	11065299	+	RNA	INS	-	-	AGC	rs56754608		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr21:11065298_11065299insAGC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ataacaaataGAGCAGCATTTC	0.337													4	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11083997	11083998	+	RNA	INS	-	-	GG	rs60923226		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr21:11083997_11083998insGG	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		atgatttgtgtttgtgtgtttg	0.277													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11089518	11089519	+	RNA	INS	-	-	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr21:11089518_11089519insA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gactctgtctcaaaaaaacaga	0.480													8	9	---	---	---	---					
