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
PROX1	5629	broad.mit.edu	37	1	214170581	214170581	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:214170581G>A	ENST00000366958.4	+	2	1311	c.703G>A	c.(703-705)Gag>Aag	p.E235K	PROX1_ENST00000435016.1_Missense_Mutation_p.E235K|PROX1_ENST00000261454.4_Missense_Mutation_p.E235K|PROX1_ENST00000498508.2_Missense_Mutation_p.E235K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	235					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAAGCGAGAGGAGCGCCGACA	0.498000													10	48					0	0	0.006214	0	0
LRP2	4036	broad.mit.edu	37	2	170065990	170065990	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:170065990G>A	ENST00000263816.3	-	38	6727	c.6442C>T	c.(6442-6444)Cgg>Tgg	p.R2148W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2148					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCAATACCCCGGACTCCATTT	0.398000													19	124					0	0	0.003330	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028615	59028615	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:59028615C>T	ENST00000594051.1	-	2	906	c.426G>A	c.(424-426)ccG>ccA	p.P142P	ZBTB45_ENST00000600990.1_Silent_p.P142P|ZBTB45_ENST00000354590.3_Silent_p.P142P			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	142	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTGCGAGTGGCGGGGGCACAG	0.706000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	13					0	0	0.004672	0	0
MTCH1	23787	broad.mit.edu	37	6	36936732	36936732	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:36936732A>G	ENST00000373627.5	-	12	1241	c.1117T>C	c.(1117-1119)Tcc>Ccc	p.S373P	MTCH1_ENST00000471737.1_5'UTR|MTCH1_ENST00000373616.5_Missense_Mutation_p.S356P	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	373					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGCAGGCTGGAGCCTCGGAAG	0.562000													3	63					0	0	0.009096	0	0
NXPE3	91775	broad.mit.edu	37	3	101520115	101520115	+	Missense_Mutation	SNP	G	G	A	rs139375291		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:101520115G>A	ENST00000422132.1	+	2	327	c.130G>A	c.(130-132)Gac>Aac	p.D44N	NXPE3_ENST00000491511.1_Missense_Mutation_p.D44N|NXPE3_ENST00000477909.1_Missense_Mutation_p.D44N|NXPE3_ENST00000273347.5_Missense_Mutation_p.D44N					neurexophilin and PC-esterase domain family, member 3																		CACTTTCATCGACAGCAGTGG	0.458000													27	161					0	0	0.004656	0	0
SMC1B	27127	broad.mit.edu	37	22	45745620	45745620	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:45745620T>A	ENST00000357450.4	-	23	3483	c.3484A>T	c.(3484-3486)Aac>Tac	p.N1162Y	SMC1B_ENST00000404354.3_Intron	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1162					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTGCCTATGTTAGTATTGTCT	0.333000													17	26					0	0	0.008871	0	0
PRKCQ	5588	broad.mit.edu	37	10	6470234	6470234	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:6470234T>C	ENST00000263125.5	-	18	2155	c.2056A>G	c.(2056-2058)Atg>Gtg	p.M686V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.M623V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.M561V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	686	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTCTGGTCCATGCTGTTGATC	0.468000													122	93					0	0	0.014410	0	0
DNTT	1791	broad.mit.edu	37	10	98078208	98078208	+	Silent	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:98078208C>A	ENST00000419175.1	+	2	473	c.303C>A	c.(301-303)ctC>ctA	p.L101L	DNTT_ENST00000371174.2_Silent_p.L101L	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	101	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AACCAGAGCTCCTCGATGTCT	0.488000													52	110					5.13769e-22	6.09004e-22	0.014410	1	0
CCDC110	256309	broad.mit.edu	37	4	186380147	186380147	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:186380147G>C	ENST00000307588.3	-	6	1669	c.1594C>G	c.(1594-1596)Ctt>Gtt	p.L532V	CCDC110_ENST00000393540.3_Missense_Mutation_p.L495V|CCDC110_ENST00000510617.1_Missense_Mutation_p.L532V	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	532						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTAAAGAAAGTTGTATATTT	0.269000													13	31					0	0	0.013537	0	0
PAK7	57144	broad.mit.edu	37	20	9561038	9561038	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:9561038C>G	ENST00000378429.3	-	5	1290	c.744G>C	c.(742-744)gaG>gaC	p.E248D	PAK7_ENST00000353224.5_Missense_Mutation_p.E248D|PAK7_ENST00000378423.1_Missense_Mutation_p.E248D	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	248	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACGCCAGGCTCTCCTTGGAGC	0.537000													7	68					0	0	0.003080	0	0
NRXN1	9378	broad.mit.edu	37	2	51149017	51149017	+	Splice_Site	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:51149017A>G	ENST00000404971.1	-	6	2260	c.919_splice	c.e6-1	p.G307_splice	NRXN1_ENST00000405472.3_Splice_Site_p.G274_splice|NRXN1_ENST00000401669.2_Splice_Site_p.G274_splice|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000405581.1_Splice_Site_p.G274_splice|NRXN1_ENST00000406316.2_Splice_Site_p.G274_splice|NRXN1_ENST00000402717.3_Intron	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	274	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTACTTTTACCTATGGATT	0.303000													6	14					0	0	0.003080	0	0
MSH4	4438	broad.mit.edu	37	1	76272747	76272747	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:76272747A>G	ENST00000263187.3	+	3	613	c.509A>G	c.(508-510)gAa>gGa	p.E170G		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	170					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GCCAGAGGTGAAATAGGAATG	0.363000								Mismatch excision repair (MMR)					19	52					0	0	0.007413	0	0
C10orf137	26098	broad.mit.edu	37	10	127414390	127414390	+	Missense_Mutation	SNP	C	C	G	rs149421957		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:127414390C>G	ENST00000337623.3	+	6	880	c.775C>G	c.(775-777)Ccc>Gcc	p.P259A	C10orf137_ENST00000356792.4_Missense_Mutation_p.P259A	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTCTGAAGATCCCAGTGCTTC	0.408000													5	63					0	0	0.000602	0	0
ANAPC7	51434	broad.mit.edu	37	12	110834183	110834183	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:110834183T>C	ENST00000455511.3	-	2	278	c.278A>G	c.(277-279)tAt>tGt	p.Y93C	ANAPC7_ENST00000450008.2_Missense_Mutation_p.Y93C|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	93					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AGCATTCCGATATTCCTTATC	0.383000													15	22					0	0	0.004007	0	0
FOXI1	2299	broad.mit.edu	37	5	169535531	169535531	+	Silent	SNP	T	T	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:169535531T>A	ENST00000449804.2	+	2	813	c.768T>A	c.(766-768)tcT>tcA	p.S256S	FOXI1_ENST00000306268.6_Silent_p.S351S	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	351					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGAGGATCTGTGCTCAGCC	0.582000									Pendred syndrome				10	62					0	0	0.006214	0	0
TMCC3	57458	broad.mit.edu	37	12	94965347	94965347	+	Missense_Mutation	SNP	G	G	A	rs149413079	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:94965347G>A	ENST00000261226.4	-	4	1429	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	TMCC3_ENST00000551457.1_Missense_Mutation_p.A402V	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	433						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GACGAACTTCGCGATGGTGGA	0.488000													21	77					0	0	0.003330	0	0
STARD5	80765	broad.mit.edu	37	15	81614833	81614833	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:81614833G>A	ENST00000302824.6	-	3	223	c.198C>T	c.(196-198)gaC>gaT	p.D66D	STARD5_ENST00000559913.1_5'UTR	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	66	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GCTTCACACAGTCCCACACCT	0.473000													19	75					0	0	0.008871	0	0
FHOD3	80206	broad.mit.edu	37	18	33935606	33935606	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr18:33935606C>T	ENST00000257209.4	+	2	392	c.270C>T	c.(268-270)gcC>gcT	p.A90A	FHOD3_ENST00000445677.1_Silent_p.A90A|FHOD3_ENST00000359247.4_Silent_p.A90A|FHOD3_ENST00000590592.1_Silent_p.A90A	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	90	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGGATGACGCCGGGTAAGAGC	0.542000													15	13					0	0	0.007413	0	0
BTAF1	9044	broad.mit.edu	37	10	93741428	93741428	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:93741428C>T	ENST00000265990.6	+	16	2092	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	595					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGTAAGGCTTCAGTTCAGTAT	0.398000													34	183					0	0	0.005524	0	0
SUPT6H	6830	broad.mit.edu	37	17	27017211	27017211	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:27017211A>G	ENST00000314616.6	+	26	3737	c.3454A>G	c.(3454-3456)Atg>Gtg	p.M1152V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1152V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1152					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATCTTCAATATGTTAACCAA	0.458000													26	57					0	0	0.004656	0	0
ALB	213	broad.mit.edu	37	4	74274375	74274375	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:74274375C>T	ENST00000295897.4	+	4	424	c.335C>T	c.(334-336)gCt>gTt	p.A112V	ALB_ENST00000509063.1_Missense_Mutation_p.A112V|ALB_ENST00000503124.1_Intron|ALB_ENST00000415165.2_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	112	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GGTGAAATGGCTGACTGCTGT	0.443000													6	27					0	0	0.001168	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													3	91					0	0	0.000602	0	0
LPHN2	23266	broad.mit.edu	37	1	82416120	82416120	+	Silent	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:82416120A>T	ENST00000370728.1	+	9	2091	c.1446A>T	c.(1444-1446)acA>acT	p.T482T	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Silent_p.T482T|LPHN2_ENST00000370713.1_Silent_p.T482T|LPHN2_ENST00000370721.1_Silent_p.T420T|LPHN2_ENST00000394879.1_Silent_p.T482T|LPHN2_ENST00000370715.1_Silent_p.T482T|LPHN2_ENST00000319517.6_Silent_p.T482T|LPHN2_ENST00000370723.1_Silent_p.T482T|LPHN2_ENST00000370717.2_Silent_p.T482T|LPHN2_ENST00000335786.5_Silent_p.T482T|LPHN2_ENST00000370725.1_Silent_p.T482T|LPHN2_ENST00000370727.1_Silent_p.T482T|LPHN2_ENST00000271029.4_Silent_p.T482T|LPHN2_ENST00000370730.1_Silent_p.T482T			O95490	LPHN2_HUMAN	latrophilin 2	482					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGCCTCAGACACAAAGGGGAA	0.398000													11	36					0	0	0.001855	0	0
C12orf43	64897	broad.mit.edu	37	12	121442193	121442193	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:121442193C>T	ENST00000445832.3	-	6	564	c.462G>A	c.(460-462)gaG>gaA	p.E154E	C12orf43_ENST00000366211.2_Silent_p.E143E|C12orf43_ENST00000539736.1_Silent_p.E174E|C12orf43_ENST00000288757.3_Silent_p.E184E|C12orf43_ENST00000537817.1_Silent_p.E185E|C12orf43_ENST00000536407.2_Intron			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	184										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGCCTCCTTCTCCACTGTTC	0.602000													39	138					0	0	0.004878	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793160	65793160	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:65793160G>A	ENST00000312106.5	-	1	828	c.691C>T	c.(691-693)Cat>Tat	p.H231Y		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	231	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCTTCATGATGACGGGACCTG	0.582000													40	22					0	0	0.008740	0	0
KRT25	147183	broad.mit.edu	37	17	38906826	38906826	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:38906826C>G	ENST00000312150.4	-	6	1041	c.981G>C	c.(979-981)ttG>ttC	p.L327F		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	327	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CGGTCTCTGTCAAGGAGCACT	0.522000													18	216					0	0	0.006122	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047691	46047691	+	Silent	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:46047691C>G	ENST00000397911.3	+	1	652	c.603C>G	c.(601-603)gtC>gtG	p.V201V	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	201	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GTGTGCCTGTCTGCTCTGGGG	0.622000													72	296					0	0	0.014410	0	0
GC	2638	broad.mit.edu	37	4	72635073	72635073	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:72635073G>A	ENST00000273951.8	-	2	446	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	GC_ENST00000504199.1_Silent_p.L54L|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.L35L	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	35	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TCCTTTCCCAGATGGGAGAAT	0.408000													3	27					0	0	0.004672	0	0
ACACA	31	broad.mit.edu	37	17	35564685	35564685	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:35564685T>C	ENST00000353139.5	-	31	4218	c.3737A>G	c.(3736-3738)tAt>tGt	p.Y1246C	ACACA_ENST00000335166.5_Missense_Mutation_p.Y1131C|ACACA_ENST00000360679.3_Missense_Mutation_p.Y1151C|ACACA_ENST00000394406.2_Missense_Mutation_p.Y1209C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1209					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGTCATGCCATAGTGGTTGAG	0.473000													21	84					0	0	0.010504	0	0
UNC13C	440279	broad.mit.edu	37	15	54305645	54305645	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:54305645G>A	ENST00000545554.1	+	1	545	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	UNC13C_ENST00000260323.11_Missense_Mutation_p.R182Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R182Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	182					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R182Q(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAGCTTTACGAAAACTGAGA	0.458000													48	82					0	0	0.014410	0	0
CLCNKB	1188	broad.mit.edu	37	1	16380141	16380141	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:16380141C>T	ENST00000375679.4	+	16	1741	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R375C	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		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)		CAGTTCCCACCGCGTGAGGGT	0.622000													3	67					0	0	0.004672	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	by1000genomes	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2																						AATTTGTCAACATTCGTGACA	0.418000													3	101					0	0	0.000602	0	0
ASCC1	51008	broad.mit.edu	37	10	73892814	73892814	+	Splice_Site	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:73892814C>G	ENST00000342444.4	-	9	1057		c.e9+1		ASCC1_ENST00000317168.6_Splice_Site|ASCC1_ENST00000394919.1_Splice_Site|ASCC1_ENST00000545550.1_Splice_Site|ASCC1_ENST00000394915.3_Splice_Site|ASCC1_ENST00000317126.4_Splice_Site	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						GGGGGACTTACCATTGGGGTC	0.428000													10	81					0	0	0.008291	0	0
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262							transcription factor binding	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517000													3	26					0	0	0.001984	0	0
GABRQ	55879	broad.mit.edu	37	X	151818953	151818953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:151818953C>T	ENST00000370306.2	+	7	831	c.811C>T	c.(811-813)Caa>Taa	p.Q271*		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	271						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCTTGTGCAAGTCTACTG	0.488000													209	67					0	0	0.014410	0	0
MBOAT7	79143	broad.mit.edu	37	19	54677830	54677830	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:54677830G>T	ENST00000245615.1	-	8	1807	c.1327C>A	c.(1327-1329)Ctg>Atg	p.L443M	MBOAT7_ENST00000338624.6_Missense_Mutation_p.L370M|MBOAT7_ENST00000431666.2_Missense_Mutation_p.L370M	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	443					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCAGCCCCAGCCCCAGGGCT	0.652000													8	33					5.18039e-06	5.82794e-06	0.003080	1	0
C12orf42	374470	broad.mit.edu	37	12	103695998	103695998	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:103695998G>T	ENST00000548048.1	-	9	1266	c.770C>A	c.(769-771)tCc>tAc	p.S257Y	C12orf42_ENST00000548883.1_Missense_Mutation_p.S324Y|C12orf42_ENST00000378113.2_Missense_Mutation_p.S324Y|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	324										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TAACCTCTTGGAGGGGAAATG	0.622000													22	54					2.89027e-11	3.36045e-11	0.014323	1	0
TPST2	8459	broad.mit.edu	37	22	26928676	26928676	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:26928676C>T	ENST00000338754.4	-	5	1347	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L	TPST2_ENST00000398110.2_Silent_p.L359L|TPST2_ENST00000403880.1_Silent_p.L359L	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	359					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						AATATCCTTTCAGATTGGCTG	0.378000													35	233					0	0	0.006999	0	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77231134	77231134	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:77231134C>A	ENST00000237642.6	+	2	1802	c.1058C>A	c.(1057-1059)gCa>gAa	p.A353E	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.A204E	NM_003943.4	NP_003934.1																					GTGGTTCACGCATGGTGGGGG	0.453000													23	115					4.87955e-14	5.70063e-14	0.005443	1	0
TMEM119	338773	broad.mit.edu	37	12	108985942	108985942	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:108985942G>A	ENST00000392806.3	-	2	386	c.218C>T	c.(217-219)aCc>aTc	p.T73I		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	73						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GCCCCCCAGGGTTATGGGCTG	0.677000													14	55					0	0	0.003163	0	0
CCNG1	900	broad.mit.edu	37	5	162866483	162866483	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:162866483C>T	ENST00000340828.2	+	2	445	c.221C>T	c.(220-222)tCt>tTt	p.S74F	AC112205.1_ENST00000599797.1_Silent_p.E21E|CCNG1_ENST00000511683.2_Intron|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000512163.1_Intron|CCNG1_ENST00000393929.1_Missense_Mutation_p.S74F	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	74					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		GAGACATTTTCTCTAGCTGTG	0.373000													24	24					0	0	0.005443	0	0
SLC44A2	57153	broad.mit.edu	37	19	10745462	10745462	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:10745462G>A	ENST00000586078.1	+	11	963	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	SLC44A2_ENST00000407327.4_Missense_Mutation_p.R283Q|SLC44A2_ENST00000335757.5_Missense_Mutation_p.R285Q	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	285					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GAGTACTCCCGACTGCGTGGT	0.557000													4	97					0	0	0.001168	0	0
TRANK1	9881	broad.mit.edu	37	3	36873988	36873988	+	Silent	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:36873988G>C	ENST00000301807.6	-	21	7201	c.5304C>G	c.(5302-5304)ctC>ctG	p.L1768L	TRANK1_ENST00000428977.2_Silent_p.L1768L|TRANK1_ENST00000429976.2_Silent_p.L2318L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2318					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTAGAGCTTTGAGTTCCCTGT	0.512000													7	75					0	0	0.004482	0	0
NKTR	4820	broad.mit.edu	37	3	42680530	42680530	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:42680530G>A	ENST00000232978.8	+	13	3522	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1112					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAGCACGTTGAAGAAAGTGT	0.408000													10	37					0	0	0.006214	0	0
LUC7L3	51747	broad.mit.edu	37	17	48821155	48821155	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:48821155T>C	ENST00000505658.1	+	6	704	c.515T>C	c.(514-516)cTa>cCa	p.L172P	LUC7L3_ENST00000544170.1_Missense_Mutation_p.L96P|LUC7L3_ENST00000240304.1_Missense_Mutation_p.L172P|LUC7L3_ENST00000393227.2_Missense_Mutation_p.L172P			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	172					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGAGAACTGCTAAGGTCCACA	0.363000													9	48					0	0	0.010729	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95452474	95452474	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:95452474C>G	ENST00000359204.4	-	6	506	c.309G>C	c.(307-309)aaG>aaC	p.K103N	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.K103N|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.K103N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.K103N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	103						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CCAAGTCTGTCTTGTCATTTT	0.338000													17	85					0	0	0.004007	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957935	152957935	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:152957935G>A	ENST00000307122.2	+	2	293	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	SPRR1A_ENST00000368762.1_Missense_Mutation_p.V77I	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	77	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTTCAACGGTCACTCCAGC	0.617000													39	87					0	0	0.009718	0	0
DLG5	9231	broad.mit.edu	37	10	79616567	79616567	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:79616567G>T	ENST00000372391.2	-	3	462	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	DLG5_ENST00000372388.2_Missense_Mutation_p.L153M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	153					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATCAGCCGCAGCTGAATGGAG	0.597000													7	58					0.00307968	0.00328229	0.003080	1	0
KIF5C	3800	broad.mit.edu	37	2	149868127	149868127	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:149868127G>A	ENST00000435030.1	+	25	3179	c.2811G>A	c.(2809-2811)acG>acA	p.T937T	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.T842T|KIF5C_ENST00000397413.1_Silent_p.T705T			O60282	KIF5C_HUMAN	kinesin family member 5C	937	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CATCTCCAACGGCCGTCCATG	0.498000													18	45					0	0	0.010504	0	0
GRM1	2911	broad.mit.edu	37	6	146351225	146351225	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:146351225A>T	ENST00000392299.2	+	2	1042	c.572A>T	c.(571-573)gAc>gTc	p.D191V	GRM1_ENST00000492807.2_Missense_Mutation_p.D191V|GRM1_ENST00000507907.1_Missense_Mutation_p.D191V|GRM1_ENST00000355289.4_Missense_Mutation_p.D191V|GRM1_ENST00000282753.1_Missense_Mutation_p.D191V|GRM1_ENST00000361719.2_Missense_Mutation_p.D191V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	191					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACAAGCATCGACCTGAGTGAC	0.507000													49	65					0	0	0.014410	0	0
JUP	3728	broad.mit.edu	37	17	39912040	39912040	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:39912040C>T	ENST00000393931.3	-	14	2312	c.2194G>A	c.(2194-2196)Ggc>Agc	p.G732S	JUP_ENST00000310706.5_Missense_Mutation_p.G732S|JUP_ENST00000393930.1_Missense_Mutation_p.G732S|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	732					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGCCTGAGGCCGTCGCTGTAG	0.632000													12	51					0	0	0.013537	0	0
UBXN2A	165324	broad.mit.edu	37	2	24194165	24194165	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:24194165G>C	ENST00000309033.4	+	3	305	c.61G>C	c.(61-63)Gat>Cat	p.D21H	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.D21H|UBXN2A_ENST00000535786.1_Missense_Mutation_p.D21H	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	21										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AACAGGATCTGATAATCAACC	0.313000													8	102					0	0	0.003080	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924371	105924371	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:105924371C>T	ENST00000526793.1	-	3	1204	c.1045G>A	c.(1045-1047)Ggt>Agt	p.G349S	KBTBD3_ENST00000534815.1_Missense_Mutation_p.G270S|KBTBD3_ENST00000531837.1_Missense_Mutation_p.G349S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	345										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CCTTTGCAACCACCTGTCAAG	0.423000													11	20					0	0	0.008291	0	0
SCN1A	6323	broad.mit.edu	37	2	166848067	166848067	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:166848067G>A	ENST00000423058.2	-	26	5735	c.5718C>T	c.(5716-5718)atC>atT	p.I1906I	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1895I|SCN1A_ENST00000303395.4_Silent_p.I1906I|SCN1A_ENST00000409050.1_Silent_p.I1878I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1906						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGTAGTAGTGATTGGCTGAT	0.443000													11	118					0	0	0.010729	0	0
IL12RB2	3595	broad.mit.edu	37	1	67793933	67793933	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:67793933A>C	ENST00000262345.1	+	5	1170	c.530A>C	c.(529-531)tAt>tCt	p.Y177S	IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y177S|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y177S|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y177S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	177	Fibronectin type-III 1.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AAAGACATTTATTGTGACTAT	0.398000													56	70					0	0	0.014410	0	0
ADAM2	2515	broad.mit.edu	37	8	39613286	39613286	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:39613286C>G	ENST00000265708.4	-	16	1861	c.1758G>C	c.(1756-1758)aaG>aaC	p.K586N	ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.K567N|ADAM2_ENST00000379853.2_Missense_Mutation_p.K430N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	586	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTATCCACATCTTTTGGCTGT	0.348000													25	10					0	0	0.003954	0	0
NUAK2	81788	broad.mit.edu	37	1	205272811	205272811	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:205272811C>T	ENST00000367157.3	-	7	1780	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	552					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCAAAGGACTCAGAGGACAGG	0.677000													8	50					0	0	0.006214	0	0
KIAA1549	57670	broad.mit.edu	37	7	138524926	138524926	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:138524926C>T	ENST00000440172.1	-	19	5598	c.5550G>A	c.(5548-5550)ggG>ggA	p.G1850G	KIAA1549_ENST00000242365.4_Silent_p.G1800G|KIAA1549_ENST00000422774.1_Silent_p.G1850G	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1850						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCCAGCCTGGCCCCCCATACT	0.582000			O	BRAF	pilocytic astrocytoma								3	3					0	0	0.004672	0	0
ZNF347	84671	broad.mit.edu	37	19	53652011	53652011	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:53652011T>C	ENST00000452676.2	-	4	623	c.197A>G	c.(196-198)gAg>gGg	p.E66G	ZNF347_ENST00000601804.1_Missense_Mutation_p.E7G|ZNF347_ENST00000601469.2_Missense_Mutation_p.E66G|ZNF347_ENST00000334197.7_Missense_Mutation_p.E65G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGTGAAAGGCTCCTTCCCTTG	0.428000													34	156					0	0	0.003271	0	0
OSBP	5007	broad.mit.edu	37	11	59376155	59376155	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:59376155C>G	ENST00000263847.1	-	3	1103	c.624G>C	c.(622-624)caG>caC	p.Q208H		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	208					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GAAGGGTATTCTGCAGCTCAG	0.468000													7	66					0	0	0.004482	0	0
TRMT12	55039	broad.mit.edu	37	8	125463385	125463385	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:125463385G>A	ENST00000328599.3	+	1	338	c.217G>A	c.(217-219)Gag>Aag	p.E73K	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	73					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCACCTGCAGGAGCTGAGGAA	0.592000													8	44					0	0	0.004482	0	0
C5orf54	63920	broad.mit.edu	37	5	159821116	159821116	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:159821116T>C	ENST00000408953.3	-	2	1889	c.1382A>G	c.(1381-1383)tAt>tGt	p.Y461C	C5orf54_ENST00000523213.1_Missense_Mutation_p.Y461C	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	461										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						aatggaaaaatatccatggaa	0.303000													8	62					0	0	0.006214	0	0
EMR3	84658	broad.mit.edu	37	19	14736338	14736338	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:14736338G>A	ENST00000253673.5	-	15	1986	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	EMR3_ENST00000344373.4_Missense_Mutation_p.S577F|EMR3_ENST00000599900.1_Missense_Mutation_p.S414F|EMR3_ENST00000443157.2_Missense_Mutation_p.S503F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	629					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CATCTTGCTGGAAAGTGTGTA	0.393000													17	95					0	0	0.012319	0	0
SORCS1	114815	broad.mit.edu	37	10	108489807	108489807	+	Splice_Site	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:108489807C>T	ENST00000263054.6	-	6	1032		c.e6+1		SORCS1_ENST00000344440.6_Splice_Site	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1							integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GATTTACTTACGACCATCCAC	0.383000													4	81					0	0	0.009096	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238436	71238436	+	Silent	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:71238436A>C	ENST00000398536.4	+	1	124	c.90A>C	c.(88-90)ggA>ggC	p.G30G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	30						keratin filament		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GCTGTGGGGGATGTGGCTCCA	0.677000													9	1179					0	0	0.001168	0	0
CSMD3	114788	broad.mit.edu	37	8	113256689	113256689	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:113256689C>T	ENST00000297405.5	-	65	10580	c.10336G>A	c.(10336-10338)Ggt>Agt	p.G3446S	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3376S|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3406S|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3277S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3446	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTTCCACCTGCTAAGAAG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	59					0	0	0.003163	0	0
NAA60	79903	broad.mit.edu	37	16	3533528	3533528	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:3533528G>C	ENST00000407558.4	+	6	806	c.503G>C	c.(502-504)cGa>cCa	p.R168P	NAA60_ENST00000424546.2_Missense_Mutation_p.R175P|NAA60_ENST00000360862.5_Missense_Mutation_p.R103P|NAA60_ENST00000421765.3_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000572942.1_Intron|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000573580.1_Missense_Mutation_p.R103P|NAA60_ENST00000572584.1_Missense_Mutation_p.R168P|NAA60_ENST00000414063.2_Missense_Mutation_p.R168P|NAA60_ENST00000575076.1_Missense_Mutation_p.R168P|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000570551.1_3'UTR	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	168	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						TACTCCATTCGAGGGGTCCTC	0.478000													5	70					0	0	0.001168	0	0
C7orf10	79783	broad.mit.edu	37	7	40535977	40535977	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:40535977G>A	ENST00000309930.5	+	12	1126	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	C7orf10_ENST00000401647.2_Missense_Mutation_p.E320K|C7orf10_ENST00000335693.4_Missense_Mutation_p.E368K	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	368							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TGTATTTGCAGAACCTCAGGT	0.403000													4	27					0	0	0.009096	0	0
MICU3	286097	broad.mit.edu	37	8	16963031	16963031	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:16963031A>G	ENST00000318063.5	+	11	1237	c.1195A>G	c.(1195-1197)Aca>Gca	p.T399A	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		TTTACGATATACAAATGTGGA	0.303000													4	19					0	0	0.009096	0	0
NUAK2	81788	broad.mit.edu	37	1	205272810	205272810	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:205272810T>A	ENST00000367157.3	-	7	1781	c.1655A>T	c.(1654-1656)gAg>gTg	p.E552V		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	552					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTCAAAGGACTCAGAGGACAG	0.672000													7	50					0	0	0.004482	0	0
FTMT	94033	broad.mit.edu	37	5	121188162	121188162	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:121188162G>C	ENST00000321339.1	+	1	513	c.504G>C	c.(502-504)aaG>aaC	p.K168N		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	168	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TCTTGGAAAAGAACGTGAACC	0.547000													17	91					0	0	0.004990	0	0
XIRP2	129446	broad.mit.edu	37	2	168101809	168101809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:168101809G>T	ENST00000409195.1	+	9	3996	c.3907G>T	c.(3907-3909)Gaa>Taa	p.E1303*	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E1081*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1303*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1128					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATTACTGAAGAAGTAATACA	0.383000													17	65					1.5739e-10	1.81259e-10	0.004007	1	0
POTEA	340441	broad.mit.edu	37	8	43147924	43147924	+	RNA	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:43147924G>T	ENST00000522175.2	+	0	299							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACAAGAAGAAGAGGTAACCGG	0.627000													9	23					0.000673444	0.000733843	0.008291	1	0
JAK1	3716	broad.mit.edu	37	1	65300341	65300341	+	Splice_Site	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:65300341C>T	ENST00000342505.4	-	25	3618		c.e25-1			NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1						interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GTTGATAAACCTGTAAAAAGA	0.303000			Mis		ALL								15	47					0	0	0.002450	0	0
AASS	10157	broad.mit.edu	37	7	121738533	121738533	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:121738533G>A	ENST00000393376.1	-	14	1721	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.F542F			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	542	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTGCCACCAAGAAGCCCAGCT	0.338000													13	48					0	0	0.001855	0	0
NUDT1	4521	broad.mit.edu	37	7	2290629	2290629	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:2290629C>T	ENST00000397049.1	+	5	635	c.533C>T	c.(532-534)aCg>aTg	p.T178M	NUDT1_ENST00000397048.1_Missense_Mutation_p.T178M|NUDT1_ENST00000343985.4_Missense_Mutation_p.T178M|NUDT1_ENST00000356714.1_Missense_Mutation_p.T155M|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000339737.2_Missense_Mutation_p.T155M|NUDT1_ENST00000397046.1_Missense_Mutation_p.T155M	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	196					DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	p.T178M(1)		large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GAGGTGGACACGGTCTAGCGG	0.602000								Modulation of nucleotide pools					18	140					0	0	0.007413	0	0
EPC2	26122	broad.mit.edu	37	2	149501231	149501231	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:149501231T>G	ENST00000258484.6	+	3	388	c.354T>G	c.(352-354)gaT>gaG	p.D118E		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	118					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATGATATGGATTCAGAAGATG	0.294000													9	14					0	0	0.006214	0	0
CD300E	342510	broad.mit.edu	37	17	72619723	72619723	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:72619723G>C	ENST00000392619.1	-	1	154	c.119C>G	c.(118-120)tCa>tGa	p.S40*	CD300E_ENST00000328630.3_Nonsense_Mutation_p.S13*|CD300E_ENST00000426295.2_Nonsense_Mutation_p.S54*	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	13	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCACTCACCTGAGAGGCAGAG	0.547000													4	152					0	0	0.009096	0	0
AAAS	8086	broad.mit.edu	37	12	53708119	53708119	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:53708119G>A	ENST00000209873.4	-	7	817	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.L185F|AAAS_ENST00000550286.1_Missense_Mutation_p.L94F	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	218					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GTCCAGATAAGAATGCAGCTC	0.587000													21	119					0	0	0.014323	0	0
DENND4A	10260	broad.mit.edu	37	15	65968902	65968902	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:65968902T>C	ENST00000443035.3	-	24	4462	c.4247A>G	c.(4246-4248)gAt>gGt	p.D1416G	DENND4A_ENST00000431932.2_Missense_Mutation_p.D1373G	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GACATCTTCATCTGTTAAAGA	0.423000													7	31					0	0	0.001984	0	0
ROBO4	54538	broad.mit.edu	37	11	124757312	124757312	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:124757312G>A	ENST00000306534.3	-	14	2625	c.2140C>T	c.(2140-2142)Ctc>Ttc	p.L714F	ROBO4_ENST00000533054.1_Missense_Mutation_p.L569F|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	714					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCTGGAGGGAGATGACGAGTA	0.602000													17	49					0	0	0.004990	0	0
FAM21EP	100421577	broad.mit.edu	37	10	51821270	51821270	+	RNA	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:51821270C>T	ENST00000456967.1	-	0	1364					NR_038275.1																						AGCCCCTTGCCCCCACTGAAC	0.547000													36	121					0	0	0.011902	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398701	47398701	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:47398701G>A	ENST00000310638.4	-	10	1272	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	CYP4A11_ENST00000371904.4_Missense_Mutation_p.S415F|CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000371905.1_Missense_Mutation_p.S414F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	414					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCATAAATGGAGAGGAGGAC	0.507000													84	357					0	0	0.014410	0	0
MMP16	4325	broad.mit.edu	37	8	89128802	89128802	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:89128802T>G	ENST00000286614.6	-	6	1298	c.1017A>C	c.(1015-1017)aaA>aaC	p.K339N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	339					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						AGATGTTGGGTTTGGCTCCGG	0.483000													44	56					0	0	0.008740	0	0
ZNF429	353088	broad.mit.edu	37	19	21720747	21720747	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:21720747C>A	ENST00000358491.4	+	4	2100	c.1892C>A	c.(1891-1893)aCc>aAc	p.T631N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAAGCTTTTACCCGGTCTTCA	0.433000													4	40					0.00198382	0.00212365	0.001984	1	0
ACAD9	28976	broad.mit.edu	37	3	128625055	128625055	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:128625055G>A	ENST00000308982.7	+	12	1322	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	414						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCGTACGAGCGCATACTGCGT	0.632000													4	115					0	0	0.000602	0	0
ADPRM	56985	broad.mit.edu	37	17	10608466	10608466	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:10608466A>G	ENST00000379774.4	+	2	314	c.223A>G	c.(223-225)Atc>Gtc	p.I75V	ADPRM_ENST00000527582.2_Missense_Mutation_p.I75V	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		GCTTGGAGATATCATCGATGG	0.418000													20	95					0	0	0.012319	0	0
FAT3	120114	broad.mit.edu	37	11	92577879	92577879	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:92577879C>T	ENST00000298047.6	+	18	11363	c.11346C>T	c.(11344-11346)aaC>aaT	p.N3782N	FAT3_ENST00000409404.2_Silent_p.N3782N|FAT3_ENST00000533797.1_Silent_p.N117N|FAT3_ENST00000525166.1_Silent_p.N3632N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3782					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTACAGGAACGTGCGTTGCA	0.512000										TCGA Ovarian(4;0.039)			4	4					0	0	0.009096	0	0
ZNF746	155061	broad.mit.edu	37	7	149191396	149191396	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:149191396C>A	ENST00000461958.2	-	2	419	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	ZNF746_ENST00000340622.3_Missense_Mutation_p.G75W|ZNF746_ENST00000458143.2_Missense_Mutation_p.G75W			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	75					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCAGCAGCCCGTACTCCTGC	0.652000													4	166					0.00909568	0.00944551	0.009096	1	0
ZNF429	353088	broad.mit.edu	37	19	21720754	21720754	+	Silent	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:21720754T>C	ENST00000358491.4	+	4	2107	c.1899T>C	c.(1897-1899)tcT>tcC	p.S633S	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTACCCGGTCTTCAAGACTTA	0.433000													4	36					0	0	0.001984	0	0
CSMD3	114788	broad.mit.edu	37	8	113317029	113317029	+	Silent	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:113317029A>G	ENST00000297405.5	-	52	8431	c.8187T>C	c.(8185-8187)taT>taC	p.Y2729Y	CSMD3_ENST00000352409.3_Silent_p.Y2659Y|CSMD3_ENST00000343508.3_Silent_p.Y2689Y|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2729	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTAGTCCATGATAACCAGGGT	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	47					0	0	0.006214	0	0
ZBTB21	49854	broad.mit.edu	37	21	43413679	43413679	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:43413679G>A	ENST00000310826.5	-	3	709	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	ZBTB21_ENST00000398511.3_Missense_Mutation_p.P176S|ZBTB21_ENST00000398505.3_Missense_Mutation_p.P176S|ZBTB21_ENST00000398499.1_Missense_Mutation_p.P176S|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CTAGGAGAGGGCCGGGAAGTA	0.418000													41	132					0	0	0.011902	0	0
CASC4	113201	broad.mit.edu	37	15	44671915	44671915	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:44671915C>G	ENST00000299957.6	+	7	1129	c.830C>G	c.(829-831)tCt>tGt	p.S277C	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.S277C	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	277						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ATTTCAGTTTCTCAACATGAA	0.333000													67	76					0	0	0.014410	0	0
PCNT	5116	broad.mit.edu	37	21	47783764	47783764	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:47783764G>C	ENST00000359568.5	+	14	2631	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	842					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.E842*(1)|p.E842K(1)|p.E842Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGTGGGCGGGAGCCGCCCAC	0.662000													8	129					0	0	0.010729	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161426	141161426	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:141161426A>G	ENST00000514251.1	+	4	475	c.196A>G	c.(196-198)Aca>Gca	p.T66A	ZBTB38_ENST00000441582.2_Missense_Mutation_p.T66A|ZBTB38_ENST00000321464.5_Missense_Mutation_p.T67A			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	66	BTB.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTGGAGCCATACAATCTGTAT	0.388000													16	81					0	0	0.004990	0	0
HSPA4	3308	broad.mit.edu	37	5	132440096	132440096	+	Missense_Mutation	SNP	G	G	T	rs144576995		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:132440096G>T	ENST00000304858.2	+	19	2780	c.2491G>T	c.(2491-2493)Gac>Tac	p.D831Y		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	831					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCGGATTCAGACAAGAAGCT	0.423000													14	64					6.72482e-11	7.78158e-11	0.003163	1	0
SYNE2	23224	broad.mit.edu	37	14	64532170	64532170	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:64532170A>G	ENST00000358025.3	+	51	10463	c.10233A>G	c.(10231-10233)atA>atG	p.I3411M	SYNE2_ENST00000555002.1_Missense_Mutation_p.I45M|SYNE2_ENST00000554584.1_Missense_Mutation_p.I3444M|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.I3411M	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3411					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAAATCTTATATCAACCAAAG	0.353000													24	22					0	0	0.003330	0	0
RNF14	9604	broad.mit.edu	37	5	141363007	141363007	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:141363007G>T	ENST00000394520.2	+	7	1435	c.1126G>T	c.(1126-1128)Gat>Tat	p.D376Y	RNF14_ENST00000347642.3_Missense_Mutation_p.D376Y|RNF14_ENST00000394514.2_Missense_Mutation_p.D250Y|RNF14_ENST00000540015.1_Missense_Mutation_p.D73Y|RNF14_ENST00000394515.3_Missense_Mutation_p.D200Y|RNF14_ENST00000356143.1_Missense_Mutation_p.D376Y|RNF14_ENST00000394519.1_Missense_Mutation_p.D376Y	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	376	Interaction with androgen receptor.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AAGACTTTTGGATCAAAGGTA	0.378000													3	22					0.004672	0.00493607	0.004672	1	0
LPHN2	23266	broad.mit.edu	37	1	82415915	82415915	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:82415915T>G	ENST00000370728.1	+	9	1886	c.1241T>G	c.(1240-1242)tTc>tGc	p.F414C	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.F414C|LPHN2_ENST00000370713.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370715.1_Missense_Mutation_p.F414C|LPHN2_ENST00000319517.6_Missense_Mutation_p.F414C|LPHN2_ENST00000370723.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370717.2_Missense_Mutation_p.F414C|LPHN2_ENST00000335786.5_Missense_Mutation_p.F414C|LPHN2_ENST00000370725.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370727.1_Missense_Mutation_p.F414C|LPHN2_ENST00000271029.4_Missense_Mutation_p.F414C|LPHN2_ENST00000370730.1_Missense_Mutation_p.F414C			O95490	LPHN2_HUMAN	latrophilin 2	414					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCTGAGCTGTTCAAAACCATA	0.428000													43	135					0	0	0.014410	0	0
BLOC1S6	26258	broad.mit.edu	37	15	45884445	45884445	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:45884445G>C	ENST00000220531.3	+	2	516	c.195G>C	c.(193-195)caG>caC	p.Q65H	BLOC1S6_ENST00000565323.1_Missense_Mutation_p.Q70H|BLOC1S6_ENST00000565216.1_Intron|BLOC1S6_ENST00000562384.1_Intron|BLOC1S6_ENST00000566753.1_Missense_Mutation_p.Q65H|BLOC1S6_ENST00000564765.1_5'UTR|BLOC1S6_ENST00000568816.1_5'UTR|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000567740.1_Intron|BLOC1S6_ENST00000565409.1_5'UTR|BLOC1S6_ENST00000567461.1_Intron	NM_012388.2	NP_036520.1			biogenesis of lysosomal organelles complex-1, subunit 6, pallidin																		CAGATCTGCAGAGATCAAAAC	0.398000													8	29					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13901525	13901525	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:13901525C>T	ENST00000265104.4	-	14	1992	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	630	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)					AGCTGGCGGGCCCACAAAATC	0.502000									Kartagener syndrome				7	30					0	0	0.003080	0	0
TBX18	9096	broad.mit.edu	37	6	85472390	85472390	+	Silent	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:85472390C>G	ENST00000369663.5	-	2	706	c.369G>C	c.(367-369)gcG>gcC	p.A123A	TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	123					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCAGGGAGCGCGCCGGAGACC	0.697000													7	35					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			32	25					0	0	0.013726	0	0
DVL3	1857	broad.mit.edu	37	3	183885832	183885832	+	Missense_Mutation	SNP	A	A	G	rs61758454		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:183885832A>G	ENST00000313143.3	+	13	1725	c.1477A>G	c.(1477-1479)Atc>Gtc	p.I493V	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.I476V	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	493	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GTGCTACTACATCTTCGGTGA	0.592000													16	102					0	0	0.004007	0	0
CTTN	2017	broad.mit.edu	37	11	70267604	70267604	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:70267604C>T	ENST00000301843.8	+	11	1025	c.819C>T	c.(817-819)ttC>ttT	p.F273F	CTTN_ENST00000538675.1_Intron|CTTN_ENST00000346329.3_Intron|CTTN_ENST00000376561.3_Intron	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	273						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GAGGCAAATTCGGTGTTCAGT	0.507000													22	4260					0	0	0.001168	0	0
PDE12	201626	broad.mit.edu	37	3	57542704	57542704	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:57542704G>A	ENST00000311180.8	+	1	701	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	PDE12_ENST00000487257.1_Missense_Mutation_p.E200K	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	200							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CTGGTATAAGGAAGCCAAGCC	0.607000													24	51					0	0	0.002780	0	0
APPL2	55198	broad.mit.edu	37	12	105591721	105591721	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:105591721G>C	ENST00000258530.3	-	11	1099	c.874C>G	c.(874-876)Ctg>Gtg	p.L292V	APPL2_ENST00000549573.1_Intron|APPL2_ENST00000539978.2_Missense_Mutation_p.L249V|APPL2_ENST00000551662.1_Missense_Mutation_p.L298V	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	292	PH.|Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTGGTGACCAGCCCTGTTTTG	0.542000													5	27					0	0	0.000602	0	0
SC5D	6309	broad.mit.edu	37	11	121174255	121174255	+	Silent	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:121174255C>G	ENST00000264027.4	+	2	545	c.171C>G	c.(169-171)gtC>gtG	p.V57V	SC5D_ENST00000392789.2_Silent_p.V57V|SC5D_ENST00000534230.1_Silent_p.V57V	NM_006918.4	NP_008849.2			sterol-C5-desaturase																		ATTATTTTGTCTTCGATCATG	0.289000													12	35					0	0	0.001855	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472529	53472529	+	RNA	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:53472529G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							ACACTTGTAAGTTCTCACTTC	0.348000													5	12					0	0	0.000602	0	0
RRAGD	58528	broad.mit.edu	37	6	90097057	90097057	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:90097057A>T	ENST00000369415.4	-	2	677	c.401T>A	c.(400-402)aTc>aAc	p.I134N	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.2_Intron	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	134					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TCCCCGGAAGATCATCTCATA	0.498000													16	124					0	0	0.004990	0	0
CDKL5	6792	broad.mit.edu	37	X	18646534	18646534	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:18646534C>T	ENST00000379989.3	+	19	2825	c.2540C>T	c.(2539-2541)tCg>tTg	p.S847L	CDKL5_ENST00000379996.3_Missense_Mutation_p.S847L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	847					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CATCTCTCTTCGGCCTCAAAT	0.483000													63	93					0	0	0.014410	0	0
CD1A	909	broad.mit.edu	37	1	158224916	158224916	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:158224916C>G	ENST00000289429.5	+	2	634	c.101C>G	c.(100-102)tCc>tGc	p.S34C		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	34					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGGATCGCATCCTTTTACAAC	0.478000													23	122					0	0	0.002780	0	0
PRDM4	11108	broad.mit.edu	37	12	108145684	108145684	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:108145684C>T	ENST00000228437.5	-	5	1093	c.634G>A	c.(634-636)Gag>Aag	p.E212K	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	212					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ATCGTAAGCTCCTCTGCCATT	0.512000													8	89					0	0	0.006214	0	0
UBC	7316	broad.mit.edu	37	12	125397268	125397268	+	Silent	SNP	G	G	A	rs145681180	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:125397268G>A	ENST00000536769.1	-	1	2626	c.1050C>T	c.(1048-1050)gcC>gcT	p.A350A	UBC_ENST00000546120.1_Silent_p.A274A|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.A350A			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCTGTTTTCCGGCAAAGATCA	0.522000													31	173					0	0	0.010771	0	0
MIR518A1	574488	broad.mit.edu	37	19	54234334	54234334	+	RNA	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:54234334A>G	ENST00000385068.1	+	0	75					NR_030210.1																						TTGCTGGATTACGGTTTGAGA	0.473000													19	73					0	0	0.006122	0	0
ABCA12	26154	broad.mit.edu	37	2	215854110	215854110	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:215854110G>T	ENST00000272895.7	-	26	3991	c.3772C>A	c.(3772-3774)Cta>Ata	p.L1258I	ABCA12_ENST00000389661.4_Missense_Mutation_p.L940I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1258					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCAGCTAGGATTAGACAG	0.423000													9	68					1.12685e-05	1.25608e-05	0.004482	1	0
ALOX12-AS1	100506713	broad.mit.edu	37	17	6913191	6913191	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:6913191C>T	ENST00000399540.2	-	2	164	c.21G>A	c.(19-21)ggG>ggA	p.G7G	AC027763.2_ENST00000575727.1_Silent_p.G7G|ALOX12_ENST00000251535.6_Intron|AC027763.2_ENST00000399541.2_Silent_p.G7G|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000574377.1_Silent_p.G19G																							AAGCCCAGGTCCCTGAAGGCA	0.557000													10	29					0	0	0.006214	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822440	43822440	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:43822440G>T	ENST00000389420.3	-	25	3651	c.3652C>A	c.(3652-3654)Ccc>Acc	p.P1218T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1218T|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P336T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1218	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATACTTACGGGTGACCAATCC	0.333000													4	12					0.00909568	0.00944551	0.009096	1	0
PRPF6	24148	broad.mit.edu	37	20	62626765	62626765	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:62626765G>T	ENST00000535781.1	+	6	812	c.701G>T	c.(700-702)gGc>gTc	p.G234V	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	234					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATGACACCTGGCACAGGTGAG	0.527000													11	51					5.50884e-06	6.16888e-06	0.013537	1	0
EGFR	1956	broad.mit.edu	37	7	55218998	55218998	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:55218998G>A	ENST00000275493.2	+	5	748	c.571G>A	c.(571-573)Gat>Aat	p.D191N	EGFR_ENST00000442591.1_Missense_Mutation_p.D191N|EGFR_ENST00000342916.3_Missense_Mutation_p.D191N|EGFR_ENST00000455089.1_Missense_Mutation_p.D146N|EGFR_ENST00000420316.2_Missense_Mutation_p.D191N|EGFR_ENST00000454757.2_Missense_Mutation_p.D138N|EGFR_ENST00000344576.2_Missense_Mutation_p.D191N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	191					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCAAAAGTGTGATCCAAGCTG	0.498000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			59	724					0	0	0.014410	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717766	2717766	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:2717766G>A	ENST00000323469.4	-	2	222	c.39C>T	c.(37-39)ttC>ttT	p.F13F	AC006538.4_ENST00000586572.1_Intron|DIRAS1_ENST00000585334.1_Silent_p.F13F	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	13					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCGCCCCGAACACCACCA	0.692000													9	30					0	0	0.001855	0	0
FOSL2	2355	broad.mit.edu	37	2	28626989	28626989	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:28626989A>G	ENST00000264716.4	+	2	981	c.118A>G	c.(118-120)Atg>Gtg	p.M40V	FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Missense_Mutation_p.M15V|FOSL2_ENST00000545753.1_Start_Codon_SNP_p.M1V	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	40					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCGGGTAGATATGCCTGGCTC	0.463000													28	83					0	0	0.007291	0	0
KALRN	8997	broad.mit.edu	37	3	124207131	124207131	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:124207131C>T	ENST00000360013.3	+	29	4486	c.4359C>T	c.(4357-4359)gcC>gcT	p.A1453A	KALRN_ENST00000460856.1_Silent_p.A1444A|KALRN_ENST00000240874.3_Silent_p.A1453A	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1453	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAAGAAAGCCAATGATGCCA	0.532000													4	91					0	0	0.000602	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151054974	151054974	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:151054974A>C	ENST00000367328.1	+	3	469	c.157A>C	c.(157-159)Aaa>Caa	p.K53Q	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.K53Q	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	53					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGGGGCCATAAAACTGGAGCT	0.572000													18	55					0	0	0.007413	0	0
ULK4	54986	broad.mit.edu	37	3	41960008	41960008	+	Missense_Mutation	SNP	C	C	A	rs55840267		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:41960008C>A	ENST00000301831.4	-	7	1130	c.668G>T	c.(667-669)aGt>aTt	p.S223I	ULK4_ENST00000420927.1_Missense_Mutation_p.S223I	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	223	Protein kinase.		S -> N (in dbSNP:rs55840267).				ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTCTGAAATACTTTCTGAGAA	0.279000													3	64					0.00909568	0.00944551	0.009096	1	0
RTN4	57142	broad.mit.edu	37	2	55252582	55252582	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:55252582A>C	ENST00000337526.6	-	3	2896	c.2653T>G	c.(2653-2655)Tta>Gta	p.L885V	RTN4_ENST00000357376.3_Missense_Mutation_p.L679V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.L653V|RTN4_ENST00000404909.1_Missense_Mutation_p.L679V|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.L679V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.L679V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	885					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCCCTGGCTAATTTAGAAAAT	0.388000													34	19					0	0	0.005524	0	0
VPS13C	54832	broad.mit.edu	37	15	62165518	62165518	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:62165518C>G	ENST00000261517.5	-	78	10578	c.10505G>C	c.(10504-10506)aGa>aCa	p.R3502T	VPS13C_ENST00000395898.3_Missense_Mutation_p.R3459T|VPS13C_ENST00000395896.4_Missense_Mutation_p.R3502T|VPS13C_ENST00000249837.3_Missense_Mutation_p.R3459T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3502					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTCTTCTCTTCTTTTTTGCTG	0.453000													46	154					0	0	0.014410	0	0
KIAA1715	80856	broad.mit.edu	37	2	176794907	176794907	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:176794907G>A	ENST00000272748.4	-	13	1322	c.1075C>T	c.(1075-1077)Ctt>Ttt	p.L359F	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.L390F	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	359						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTATCATCAAGAACATCGTGT	0.353000													4	167					0	0	0.009096	0	0
SORCS1	114815	broad.mit.edu	37	10	108437080	108437080	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:108437080C>T	ENST00000263054.6	-	13	1830	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	SORCS1_ENST00000369698.1_Missense_Mutation_p.R143Q|SORCS1_ENST00000344440.6_Missense_Mutation_p.R608Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	608						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCAAAGATGTCGAATTGGGAG	0.463000													22	53					0	0	0.004656	0	0
ACOT4	122970	broad.mit.edu	37	14	74061758	74061758	+	Silent	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:74061758A>G	ENST00000326303.4	+	3	920	c.666A>G	c.(664-666)aaA>aaG	p.K222K		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	222					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TCCAGGTAAAAGGCCCAGGCA	0.478000													3	181					0	0	0.004672	0	0
UBC	7316	broad.mit.edu	37	12	125397265	125397265	+	Silent	SNP	T	T	C	rs140629410		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:125397265T>C	ENST00000536769.1	-	1	2629	c.1053A>G	c.(1051-1053)ggA>ggG	p.G351G	UBC_ENST00000546120.1_Silent_p.G275G|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.G351G			P0CG48	UBC_HUMAN	ubiquitin C	351	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCAGCTGTTTTCCGGCAAAGA	0.527000													31	180					0	0	0.009718	0	0
MUC5B	727897	broad.mit.edu	37	11	1272931	1272931	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:1272931A>G	ENST00000447027.1	+	31	14888	c.14830A>G	c.(14830-14832)Act>Gct	p.T4944A	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4941A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4941					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACTTCTCTACTCCCTGCTT	0.582000													7	23					0	0	0.004482	0	0
TBX19	9095	broad.mit.edu	37	1	168260618	168260618	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:168260618T>C	ENST00000367821.3	+	2	475	c.424T>C	c.(424-426)Ttc>Ctc	p.F142L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	142					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCCCATCTCCTTCAGCAAAGT	0.622000													34	175					0	0	0.004878	0	0
BAGE2	85319	broad.mit.edu	37	21	11038861	11038861	+	RNA	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:11038861G>T	ENST00000470054.1	-	0	1342									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)		GAGCTGAAGGGTAATTACGCA	0.438000													30	270					1.26612e-14	1.49353e-14	0.003271	1	0
TTN	7273	broad.mit.edu	37	2	179403855	179403855	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:179403855C>T	ENST00000589042.1	-	353	99031	c.98807G>A	c.(98806-98808)cGc>cAc	p.R32936H	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23871H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24063H|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23996H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R31295H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30368H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31295							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCTCTTTGCGTTCGATGTA	0.498000													16	114					0	0	0.004007	0	0
CLCN1	1180	broad.mit.edu	37	7	143020479	143020479	+	Splice_Site	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:143020479G>C	ENST00000343257.2	+	6	861	c.774_splice	c.e6+1	p.E258_splice	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	258					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGGTATATGAGGTAAGGTTGA	0.602000													16	63					0	0	0.006122	0	0
NCKAP1	10787	broad.mit.edu	37	2	183850902	183850902	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:183850902T>C	ENST00000360982.2	-	11	1777	c.1019A>G	c.(1018-1020)cAt>cGt	p.H340R	NCKAP1_ENST00000361354.3_Missense_Mutation_p.H334R	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	334					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TACTCACGCATGTGACACGGC	0.318000													6	12					0	0	0.001168	0	0
SH2D4B	387694	broad.mit.edu	37	10	82330001	82330001	+	Silent	SNP	C	C	T	rs149783849	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:82330001C>T	ENST00000339284.2	+	2	706	c.276C>T	c.(274-276)taC>taT	p.Y92Y	SH2D4B_ENST00000470604.2_Silent_p.Y91Y|SH2D4B_ENST00000313455.4_Silent_p.Y43Y	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	91	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			ACAAGCCCTACGAAGAGATCT	0.597000													36	93					0	0	0.006999	0	0
NADSYN1	55191	broad.mit.edu	37	11	71191849	71191849	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:71191849T>C	ENST00000319023.2	+	11	1110	c.922T>C	c.(922-924)Tcg>Ccg	p.S308P	NADSYN1_ENST00000530055.1_5'UTR|NADSYN1_ENST00000539574.1_Missense_Mutation_p.S48P|NADSYN1_ENST00000526039.2_3'UTR	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	308					NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTTGCCCTCTCGTGCCACGA	0.592000													7	300					0	0	0.003080	0	0
BRCA1	672	broad.mit.edu	37	17	41244991	41244991	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:41244991C>T	ENST00000309486.4	-	9	2696	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.D806N|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.D853N|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.D853N|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.D853N|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.D853N	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	853					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TACTGAGCATCAAGTTCACTT	0.393000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			50	133					0	0	0.014410	0	0
RHOJ	57381	broad.mit.edu	37	14	63747813	63747813	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:63747813A>G	ENST00000316754.3	+	3	824	c.362A>G	c.(361-363)gAc>gGc	p.D121G	RHOJ_ENST00000555125.1_Missense_Mutation_p.D121G	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	121					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GAGCTCAAGGACTGCATGCCT	0.537000													24	55					0	0	0.003330	0	0
IGHG2	3501	broad.mit.edu	37	14	106110094	106110094	+	RNA	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:106110094A>T	ENST00000390545.2	-	0	523																											CGTGCTGTTGAACTGCTCCTC	0.592000													79	211					0	0	0.014410	0	0
ZNF423	23090	broad.mit.edu	37	16	49764716	49764716	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:49764716G>C	ENST00000561648.1	-	3	296	c.243C>G	c.(241-243)gaC>gaG	p.D81E	ZNF423_ENST00000262383.2_Missense_Mutation_p.D81E|ZNF423_ENST00000562520.1_Missense_Mutation_p.D21E|ZNF423_ENST00000562871.1_Missense_Mutation_p.D21E|ZNF423_ENST00000563137.2_Missense_Mutation_p.D21E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	81					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTCCGTCAGGTCTGCCAGAG	0.517000													5	105					0	0	0.001168	0	0
MICAL3	57553	broad.mit.edu	37	22	18301236	18301236	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:18301236C>T	ENST00000441493.2	-	26	4543	c.4191G>A	c.(4189-4191)gaG>gaA	p.E1397E		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1397	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGACAACGGCTCGCCTTCCG	0.647000													34	94					0	0	0.004289	0	0
GTPBP6	8225	broad.mit.edu	37	X	229479	229479	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:229479C>T	ENST00000326153.4	-	2	182	c.183G>A	c.(181-183)acG>acA	p.T61T				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	290						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACTCCCGCCTCGTCCGCTGCC	0.667000													5	21					0	0	0.000602	0	0
AP3D1	8943	broad.mit.edu	37	19	2121203	2121203	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:2121203G>A	ENST00000355272.6	-	13	1415	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	AP3D1_ENST00000356926.4_Silent_p.I312I|AP3D1_ENST00000345016.5_Silent_p.I403I|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Silent_p.I234I	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	403					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGGCTGCAGATGTCAATGA	0.587000													16	63					0	0	0.006122	0	0
UROS	7390	broad.mit.edu	37	10	127503624	127503624	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:127503624C>G	ENST00000368778.3	-	4	416	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	UROS_ENST00000368786.1_Missense_Mutation_p.E75Q|UROS_ENST00000368797.4_Missense_Mutation_p.E75Q|UROS_ENST00000368774.1_Missense_Mutation_p.E75Q			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	75					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	p.E75K(1)		endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TTGTTTTGCTCCAAACATAAC	0.443000													6	59					0	0	0.001984	0	0
ERBB4	2066	broad.mit.edu	37	2	212488717	212488717	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:212488717C>A	ENST00000342788.4	-	18	2442	c.2132G>T	c.(2131-2133)cGt>cTt	p.R711L	ERBB4_ENST00000436443.1_Missense_Mutation_p.R711L|ERBB4_ENST00000402597.1_Missense_Mutation_p.R701L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	711					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTTCAAAATACGAAGTTGAGC	0.418000										TSP Lung(8;0.080)			4	57					0.00909568	0.00944551	0.009096	1	0
C19orf40	91442	broad.mit.edu	37	19	33464412	33464412	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:33464412G>A	ENST00000588258.1	+	3	297	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	C19orf40_ENST00000590281.1_Missense_Mutation_p.E63K|C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000589646.1_5'UTR	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	63					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TTATGTCACCGAAGCTGATTT	0.438000								Direct reversal of damage					19	106					0	0	0.002780	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16816213	16816213	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:16816213G>C	ENST00000355661.3	-	19	2577	c.2567C>G	c.(2566-2568)tCa>tGa	p.S856*	PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.S856*|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.S856*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	856	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTCAGAAGTTGAGAGTGAAGG	0.582000													7	54					0	0	0.003080	0	0
CASQ1	844	broad.mit.edu	37	1	160165806	160165806	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:160165806G>A	ENST00000368079.3	+	6	1028	c.753G>A	c.(751-753)gaG>gaA	p.E251E	CASQ1_ENST00000368078.3_Silent_p.E257E	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	257						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTTCGTGGAGGAGCACAGGA	0.552000													10	73					0	0	0.010729	0	0
DST	667	broad.mit.edu	37	6	56417926	56417926	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:56417926C>A	ENST00000370754.5	-	61	15570	c.15571G>T	c.(15571-15573)Gta>Tta	p.V5191L	DST_ENST00000370769.4_Missense_Mutation_p.V5013L|DST_ENST00000421834.2_Missense_Mutation_p.V2925L|DST_ENST00000370788.2_Missense_Mutation_p.V2925L|DST_ENST00000361203.3_Missense_Mutation_p.V5011L|DST_ENST00000244364.6_Missense_Mutation_p.V2599L|DST_ENST00000446842.2_Missense_Mutation_p.V4687L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5011					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTAATTCTACCATACCAAAG	0.403000													86	204					4.25105e-50	5.06375e-50	0.014410	1	0
OR6N1	128372	broad.mit.edu	37	1	158735835	158735835	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:158735835A>C	ENST00000335094.2	-	1	657	c.638T>G	c.(637-639)cTg>cGg	p.L213R		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCAGAGGATCAGCAGGAAGGT	0.498000													8	120					0	0	0.004482	0	0
TRIM10	10107	broad.mit.edu	37	6	30122152	30122152	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:30122152C>T	ENST00000449742.2	-	7	1115	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	TRIM10_ENST00000376704.3_Missense_Mutation_p.R347H	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	347	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CCGGTCAAAACGTTGGGGGTT	0.602000													15	48					0	0	0.004990	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181796	140181796	+	Silent	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:140181796C>G	ENST00000522353.2	+	1	1014	c.1014C>G	c.(1012-1014)ctC>ctG	p.L338L	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.L338L|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACTCGAAATTGTGG	0.398000													3	71					0	0	0.004672	0	0
PPFIA1	8500	broad.mit.edu	37	11	70202282	70202282	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:70202282C>T	ENST00000253925.7	+	19	2719	c.2504C>T	c.(2503-2505)aCg>aTg	p.T835M	PPFIA1_ENST00000389547.3_Missense_Mutation_p.T835M|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	835					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTTTCCGAGACGGATAACTCA	0.403000													21	1879					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179544334	179544334	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:179544334G>A	ENST00000589042.1	-	141	33880	c.33656C>T	c.(33655-33657)cCg>cTg	p.P11219L	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10902L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9975L|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10902	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTTGCCGGTGGAGCTTC	0.418000													8	31					0	0	0.006214	0	0
RMDN3	55177	broad.mit.edu	37	15	41029852	41029852	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:41029852C>T	ENST00000260385.6	-	9	2265	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	RMDN3_ENST00000338376.3_Missense_Mutation_p.E400K					regulator of microtubule dynamics 3																		AGGGCATCTTCCACAGTGGCA	0.478000													5	76					0	0	0.001168	0	0
TRHDE	29953	broad.mit.edu	37	12	73012775	73012775	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:73012775T>C	ENST00000261180.4	+	13	2387	c.2291T>C	c.(2290-2292)cTa>cCa	p.L764P		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	764					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTTTATCCTCTAGATAAATTA	0.353000													9	45					0	0	0.006214	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	54					0	0	0.000602	0	0
NUP62	23636	broad.mit.edu	37	19	50412137	50412137	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:50412137C>T	ENST00000596217.1	-	2	2815	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.V310M|NUP62_ENST00000352066.3_Missense_Mutation_p.V310M|NUP62_ENST00000422090.2_Missense_Mutation_p.V310M|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.V310M|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	310	Ala-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGAGCGGTCACGGCAGCTGCT	0.652000													9	49					0	0	0.006214	0	0
MCM6	4175	broad.mit.edu	37	2	136614422	136614422	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:136614422G>T	ENST00000264156.2	-	11	1562	c.1502C>A	c.(1501-1503)gCa>gAa	p.A501E	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	501	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GTTTGCTGCTGCCAAAATGGA	0.383000													16	31					0.000566183	0.000619741	0.004990	1	0
TRIP12	9320	broad.mit.edu	37	2	230693917	230693917	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:230693917C>T	ENST00000283943.5	-	7	1476	c.1298G>A	c.(1297-1299)aGt>aAt	p.S433N	TRIP12_ENST00000389044.4_Missense_Mutation_p.S481N|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.S136N	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	433					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACTAGCTCCACTTCCAATTGT	0.393000													7	36					0	0	0.004482	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782551	115782551	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:115782551G>T	ENST00000343348.6	-	19	3638	c.2851C>A	c.(2851-2853)Cag>Aag	p.Q951K	SEMA6A_ENST00000513137.1_Missense_Mutation_p.Q378K|SEMA6A_ENST00000503865.1_Missense_Mutation_p.Q330K|SEMA6A_ENST00000510263.1_Missense_Mutation_p.Q951K|SEMA6A_ENST00000257414.8_Missense_Mutation_p.Q968K|SEMA6A_ENST00000282394.6_Missense_Mutation_p.Q428K	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	951					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CCAAAGCTCTGGTTTCTGGAG	0.607000													10	38					1.76689e-08	2.00633e-08	0.006214	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149215963	149215963	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:149215963G>A	ENST00000309241.5	+	8	1977	c.1945G>A	c.(1945-1947)Ggg>Agg	p.G649R	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.G649R|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.G610R|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.G585R	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	649					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCCACCCCAGGGGCTGCCCA	0.602000													16	78					0	0	0.007413	0	0
DDB1	1642	broad.mit.edu	37	11	61080987	61080987	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:61080987C>T	ENST00000301764.7	-	16	2450	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	685	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATAGCCATCTGAATTGAGG	0.433000								Nucleotide excision repair (NER)					17	124					0	0	0.008871	0	0
LEPR	3953	broad.mit.edu	37	1	66064395	66064395	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:66064395G>A	ENST00000349533.6	+	8	1087	c.902G>A	c.(901-903)gGg>gAg	p.G301E	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.G301E|LEPR_ENST00000371059.3_Missense_Mutation_p.G301E|LEPR_ENST00000371060.3_Missense_Mutation_p.G301E|LEPR_ENST00000344610.8_Missense_Mutation_p.G301E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	301	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATACTTCCTGGGTCTTCGTAT	0.448000													17	48					0	0	0.006122	0	0
ALOX12	239	broad.mit.edu	37	17	6900305	6900305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:6900305G>A	ENST00000251535.6	+	2	349	c.296G>A	c.(295-297)tGg>tAg	p.W99*	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	99	PLAT.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TGCTACCGCTGGGTGCAGGGC	0.706000													5	3					0	0	0.000602	0	0
ATP4A	495	broad.mit.edu	37	19	36051332	36051332	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:36051332G>A	ENST00000262623.3	-	6	748	c.720C>T	c.(718-720)ccC>ccT	p.P240P		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	240					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCGTGCACTCGGGTGAGCGGG	0.657000													15	81					0	0	0.003163	0	0
RHOJ	57381	broad.mit.edu	37	14	63747788	63747788	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:63747788G>A	ENST00000316754.3	+	3	799	c.337G>A	c.(337-339)Gag>Aag	p.E113K	RHOJ_ENST00000555125.1_Missense_Mutation_p.E113K	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	113					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CAATGTCCAGGAGGAATGGGT	0.557000													25	67					0	0	0.003954	0	0
LBP	3929	broad.mit.edu	37	20	36992694	36992694	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:36992694G>T	ENST00000217407.2	+	7	879	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	240					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCGGGCAACAGCCCAGATGCT	0.562000													6	44					0.00198382	0.00212365	0.001984	1	0
OSBPL6	114880	broad.mit.edu	37	2	179213991	179213991	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:179213991C>T	ENST00000190611.4	+	12	1404	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	OSBPL6_ENST00000359685.3_Missense_Mutation_p.S343F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S343F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S347F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S368F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S312F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S312F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	343					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CGCTTGCATTCCTCCAACCCC	0.438000													17	271					0	0	0.014323	0	0
VPS29	51699	broad.mit.edu	37	12	110929916	110929916	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:110929916G>A	ENST00000549578.1	-	4	508	c.443C>T	c.(442-444)cCa>cTa	p.P148L	VPS29_ENST00000549970.1_Missense_Mutation_p.P53L|VPS29_ENST00000447578.2_Missense_Mutation_p.P53L|VPS29_ENST00000546588.1_Missense_Mutation_p.P180L|VPS29_ENST00000552130.2_Missense_Mutation_p.P53L|VPS29_ENST00000360579.7_Missense_Mutation_p.P152L	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	148					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CACAAATGATGGAATAATGTT	0.328000													5	29					0	0	0.000602	0	0
XIRP2	129446	broad.mit.edu	37	2	168105100	168105100	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:168105100G>A	ENST00000409195.1	+	9	7287	c.7198G>A	c.(7198-7200)Gaa>Aaa	p.E2400K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2178K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2400K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2225					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCCCAAAAAGAAGCCTCGAA	0.473000													4	102					0	0	0.009096	0	0
FAM155A	728215	broad.mit.edu	37	13	108518304	108518304	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr13:108518304G>A	ENST00000375915.2	-	1	779	c.641C>T	c.(640-642)cCg>cTg	p.P214L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	214						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTCCAGAGCGGAGTGGGATG	0.577000													16	106					0	0	0.004990	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									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)		ccagcctccaactcccccttc	0.627000													6	7					0	0	0.004482	0	0
TRHDE	29953	broad.mit.edu	37	12	73015465	73015465	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:73015465G>T	ENST00000261180.4	+	15	2570	c.2474G>T	c.(2473-2475)gGc>gTc	p.G825V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	825					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCAGTTTTGGCAACAAGCAC	0.373000													6	24					0.00198382	0.00212365	0.001984	1	0
DOT1L	84444	broad.mit.edu	37	19	2210666	2210666	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:2210666A>T	ENST00000398665.3	+	14	1199	c.1163A>T	c.(1162-1164)aAg>aTg	p.K388M		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	388						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGTGAAGAAGCCGTCTCCC	0.607000													22	131					0	0	0.003954	0	0
SMAD2	4087	broad.mit.edu	37	18	45371798	45371798	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr18:45371798A>G	ENST00000402690.2	-	10	1587	c.1193T>C	c.(1192-1194)gTt>gCt	p.V398A	SMAD2_ENST00000262160.6_Missense_Mutation_p.V398A|SMAD2_ENST00000586040.1_Missense_Mutation_p.V368A|SMAD2_ENST00000356825.4_Missense_Mutation_p.V368A|SMAD2_ENST00000591214.1_Missense_Mutation_p.V368A	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	398	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ACCCTGATTAACAGACTGAGC	0.383000													49	42					0	0	0.014410	0	0
CD14	929	broad.mit.edu	37	5	140012362	140012362	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:140012362A>T	ENST00000302014.6	-	2	836	c.207T>A	c.(205-207)ttT>ttA	p.F69L	CD14_ENST00000401743.2_Missense_Mutation_p.F69L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	69					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTTTAGAAACGGCTCTA	0.632000													4	38					0	0	0.009096	0	0
HERC3	8916	broad.mit.edu	37	4	89627912	89627912	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:89627912C>A	ENST00000402738.1	+	26	3193	c.2954C>A	c.(2953-2955)aCa>aAa	p.T985K	HERC3_ENST00000264345.3_Missense_Mutation_p.T985K|HERC3_ENST00000543130.1_Missense_Mutation_p.T429K	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	985	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GTGTTCCTGACAGGCAGCGAT	0.552000											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0.00024832	0.00027304	0.009096	1	0
SMURF2	64750	broad.mit.edu	37	17	62579622	62579622	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:62579622G>C	ENST00000262435.9	-	7	713	c.526C>G	c.(526-528)Cta>Gta	p.L176V	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	176	WW 1.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ATATGGTTTAGATACTGGATT	0.413000													4	85					0	0	0.000602	0	0
CDKN2A	1029	broad.mit.edu	37	9	21970971	21970971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr9:21970971G>T	ENST00000304494.5	-	2	657	c.387C>A	c.(385-387)taC>taA	p.Y129*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.Y78*|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Y129*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.Y78*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.Y78*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.Y78*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.Y78*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Y129*|CDKN2A_ENST00000579755.1_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	129					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.Y129*(7)|p.R128fs*12(3)|p.R128fs*9(2)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGCGCGCAGGTACCGTGCGA	0.682000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			20	12					1.55795e-14	1.82889e-14	0.012319	1	0
RBL1	5933	broad.mit.edu	37	20	35717460	35717460	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:35717460C>T	ENST00000373664.3	-	2	288	c.222G>A	c.(220-222)acG>acA	p.T74T	RBL1_ENST00000344359.3_Silent_p.T74T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	74					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCTTTCCAACCGTGGGAATAA	0.383000													12	76					0	0	0.002450	0	0
REPS2	9185	broad.mit.edu	37	X	17047658	17047658	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:17047658A>G	ENST00000357277.3	+	5	854	c.683A>G	c.(682-684)gAa>gGa	p.E228G	REPS2_ENST00000303843.7_Missense_Mutation_p.E227G|REPS2_ENST00000380064.4_Missense_Mutation_p.E88G	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	228					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GCACCTTATGAAGCTAGGCAG	0.483000													3	57					0	0	0.004672	0	0
CLEC18C	283971	broad.mit.edu	37	16	70211272	70211272	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:70211272G>A	ENST00000569347.2	+	3	599	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000314151.8_Silent_p.A115A|CLEC18C_ENST00000541793.2_Silent_p.A115A|CLEC18C_ENST00000536907.2_Silent_p.A115A	NM_173619.2	NP_775890.2			C-type lectin domain family 18, member C											endometrium(3)|large_intestine(6)|lung(1)	10						TGCTGCCCGCGGGCTTGGCGT	0.662000													4	31					0	0	0.003080	0	0
MYH8	4626	broad.mit.edu	37	17	10302117	10302117	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:10302117C>T	ENST00000403437.2	-	29	4043	c.3949G>A	c.(3949-3951)Gag>Aag	p.E1317K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1317					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTTTCAGCTCTTCAATCTGC	0.388000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				6	55					0	0	0.003080	0	0
KSR2	283455	broad.mit.edu	37	12	117909103	117909103	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:117909103C>T	ENST00000425217.1	-	18	2572	c.2518G>A	c.(2518-2520)Gcc>Acc	p.A840T	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.A869T	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	869	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATTCCCTGGCGTGGAGTTCA	0.502000													17	32					0	0	0.006122	0	0
FAR1	84188	broad.mit.edu	37	11	13736146	13736146	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:13736146A>G	ENST00000354817.3	+	9	1190	c.1046A>G	c.(1045-1047)tAt>tGt	p.Y349C	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	349					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CATCTTTTATATCATTACTGG	0.438000													9	29					0	0	0.006214	0	0
KIAA1549	57670	broad.mit.edu	37	7	138524925	138524925	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:138524925G>T	ENST00000440172.1	-	19	5599	c.5551C>A	c.(5551-5553)Cca>Aca	p.P1851T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1801T|KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1851T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1851						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGCCAGCCTGGCCCCCCATAC	0.582000			O	BRAF	pilocytic astrocytoma								3	3					0.004672	0.00493607	0.004672	1	0
RGS5	8490	broad.mit.edu	37	1	163122400	163122400	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:163122400C>G	ENST00000313961.5	-	4	601	c.324G>C	c.(322-324)aaG>aaC	p.K108N	RGS5_ENST00000530507.1_Missense_Mutation_p.K108N|RGS5_ENST00000527988.1_5'UTR|RGS5_ENST00000367903.3_Missense_Mutation_p.K128N	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	108	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TCTCAGCCATCTTGGCAGGGG	0.448000													62	282					0	0	0.014410	0	0
ACSM5	54988	broad.mit.edu	37	16	20442541	20442541	+	Splice_Site	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:20442541G>A	ENST00000331849.4	+	10	1353		c.e10-1			NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TTCCTTACCAGATTGTGGATG	0.552000													23	102					0	0	0.002780	0	0
GP1BA	2811	broad.mit.edu	37	17	4836583	4836583	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:4836583G>C	ENST00000329125.5	+	2	759	c.684G>C	c.(682-684)gaG>gaC	p.E228D		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	228										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GCAACTGTGAGATCCTCTATT	0.502000													35	20					0	0	0.004289	0	0
PIWIL4	143689	broad.mit.edu	37	11	94349700	94349700	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:94349700T>C	ENST00000299001.6	+	16	2196	c.1985T>C	c.(1984-1986)gTt>gCt	p.V662A	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	662	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGACTGATGTTGCAGATTGC	0.343000													14	34					0	0	0.002450	0	0
PALB2	79728	broad.mit.edu	37	16	23641719	23641719	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:23641719C>T	ENST00000261584.4	-	5	1908	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	586					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GTGAAAGCATCATCATCCAAG	0.368000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					7	24					0	0	0.004482	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763747	77763747	+	Silent	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:77763747G>C	ENST00000521891.2	+	10	5038	c.4590G>C	c.(4588-4590)acG>acC	p.T1530T	ZFHX4_ENST00000050961.6_Silent_p.T1485T|ZFHX4_ENST00000455469.2_Silent_p.T1485T|ZFHX4_ENST00000518282.1_Silent_p.T1504T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1485						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAATTTTACGATGGAAAAAT	0.403000										HNSCC(33;0.089)			4	45					0	0	0.009096	0	0
PEG3	5178	broad.mit.edu	37	19	57327434	57327434	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:57327434A>C	ENST00000326441.9	-	10	2739	c.2376T>G	c.(2374-2376)agT>agG	p.S792R	PEG3_ENST00000423103.2_Missense_Mutation_p.S792R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S668R|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S666R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	792					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCCTGCTACACTGTGACTTT	0.453000													76	88					0	0	0.014410	0	0
B4GALT5	9334	broad.mit.edu	37	20	48263615	48263615	+	Splice_Site	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:48263615T>C	ENST00000371711.4	-	3	438	c.250_splice	c.e3-1	p.D84_splice		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	84					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			AAGAGGATAATCTAGGGAGGT	0.413000													14	49					0	0	0.002450	0	0
CABIN1	23523	broad.mit.edu	37	22	24463127	24463127	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:24463127C>T	ENST00000398319.2	+	16	2612	c.2227C>T	c.(2227-2229)Ctg>Ttg	p.L743L	CABIN1_ENST00000405822.2_Silent_p.L693L|CABIN1_ENST00000263119.5_Silent_p.L743L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	743					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTGCTTCTTCTGCAGGTGTG	0.532000													5	26					0	0	0.001168	0	0
RMND1	55005	broad.mit.edu	37	6	151766876	151766876	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:151766876C>A	ENST00000367303.4	-	2	193	c.71G>T	c.(70-72)aGa>aTa	p.R24I	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	24										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		ATGACCGATTCTTCGGCACTG	0.403000													14	34					4.36969e-10	4.98514e-10	0.001855	1	0
ESPNP	284729	broad.mit.edu	37	1	17029267	17029278	+	RNA	DEL	GTGGTCCCACAG	GTGGTCCCACAG	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:17029267_17029278delGTGGTCCCACAG	ENST00000492551.1	-	0	1087_1098					NR_026567.1																						TCAGCTGCCTGTGGTCCCACAGGAGGCTTGGG	0.656													9	138	---	---	---	---					
SCRN3	79634	broad.mit.edu	37	2	175292478	175292479	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:175292478_175292479delTG	ENST00000272732.6	+	8	1212_1213	c.1130_1131delTG	c.(1129-1131)cfs	p.L377fs	SCRN3_ENST00000409673.3_Frame_Shift_Del_p.L370fs|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	377					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ATGAGGAAACTGGAGAAAGAAC	0.297													11	111	---	---	---	---					
LINC00882	100302640	broad.mit.edu	37	3	106824710	106824712	+	RNA	DEL	TTT	TTT	-	rs139188639		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:106824710_106824712delTTT	ENST00000484698.1	-	0	295																											tttttatatcttttttttttttt	0.453													2	4	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146995076	146995077	+	RNA	INS	-	-	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:146995076_146995077insA	ENST00000473299.1	-	0	132																											TTCTGGACTGtaaaaaaaaaaa	0.292													2	4	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)gccfs	p.A48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644													7	634	---	---	---	---					
CC2D2A	57545	broad.mit.edu	37	4	15589466	15589468	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:15589466_15589468delGAA	ENST00000424120.1	+	32	4347_4349	c.4093_4095delGAA	c.(4093-4095)del	p.E1367del	CC2D2A_ENST00000503292.1_In_Frame_Del_p.E1367del|CC2D2A_ENST00000413206.1_In_Frame_Del_p.E1367del|CC2D2A_ENST00000389652.5_In_Frame_Del_p.E1259del			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1367					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGCAGGGGATGAAGAAGAACATG	0.399													14	49	---	---	---	---					
INTS12	57117	broad.mit.edu	37	4	106604428	106604428	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:106604428delG	ENST00000451321.2	-	7	1330	c.851delC	c.(850-852)tgfs	p.S285fs	INTS12_ENST00000394735.1_Frame_Shift_Del_p.S285fs|INTS12_ENST00000340139.5_Frame_Shift_Del_p.S285fs	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	285	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		AGTTACTGACGAGGAAACGCT	0.378													8	30	---	---	---	---					
STC1	6781	broad.mit.edu	37	8	23702493	23702493	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:23702493delG	ENST00000290271.2	-	4	817	c.534delC	c.(532-534)atfs	p.I178fs	STC1_ENST00000524323.1_Frame_Shift_Del_p.I109fs	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	178					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGCTGTCTCTGATTGTGCTGA	0.502													50	41	---	---	---	---					
LINC00840	100506835	broad.mit.edu	37	10	44362841	44362842	+	RNA	INS	-	-	GGGCAG	rs11283414	by1000genomes	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:44362841_44362842insGGGCAG	ENST00000431737.1	+	0	1182					NR_038268.1																						ggcgggggcaagggcaggggca	0.569													2	4	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55955582	55955594	+	Frame_Shift_Del	DEL	TTTTCATCCAGTA	TTTTCATCCAGTA	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:55955582_55955594delTTTTCATCCAGTA	ENST00000373965.2	-	11	1548_1560	c.1154_1166delTACTGGATGAAAA	c.(1153-1167)acfs	p.ILDEN385fs	PCDH15_ENST00000395433.1_Frame_Shift_Del_p.ILDEN363fs|PCDH15_ENST00000395446.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395438.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000437009.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000373957.3_Frame_Shift_Del_p.ILDEN363fs|PCDH15_ENST00000373955.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395430.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395432.2_Frame_Shift_Del_p.ILDEN348fs|PCDH15_ENST00000395440.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000320301.6_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000414778.1_Frame_Shift_Del_p.ILDEN390fs|PCDH15_ENST00000395445.1_Frame_Shift_Del_p.ILDEN385fs	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	385	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.E393K(2)|p.E388K(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTTTGATTGTTTTCATCCAGTATTTCAATGTG	0.390										HNSCC(58;0.16)			7	47	---	---	---	---					
OCA2	4948	broad.mit.edu	37	15	28200305	28200305	+	Splice_Site	DEL	T	T	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:28200305delT	ENST00000354638.3	-	17	1996	c.1842_splice	c.e17+1	p.K614_splice	OCA2_ENST00000382996.2_Splice_Site_p.K614_splice|OCA2_ENST00000353809.5_Splice_Site_p.K590_splice	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	614			K -> E (in OCA2).|K -> N (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTACCTTTTTTTGGAG	0.443									Oculocutaneous Albinism				8	177	---	---	---	---					
MAP1A	4130	broad.mit.edu	37	15	43815715	43815716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:43815715_43815716insA	ENST00000382031.1	+	5	2789_2790	c.2758_2759insA	c.(2758-2760)aaafs	p.K920fs	MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.K682fs|MAP1A_ENST00000300231.5_Frame_Shift_Ins_p.K682fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	682						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGTTTTTACCAAAAACATATG	0.515													7	26	---	---	---	---					
IQGAP1	8826	broad.mit.edu	37	15	90934059	90934060	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:90934059_90934060insA	ENST00000268182.5	+	2	233_234	c.109_110insA	c.(109-111)gaafs	p.E37fs	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	37					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGGAGACGTCAGAACGTGGCT	0.426													18	65	---	---	---	---					
PLCG2	5336	broad.mit.edu	37	16	81957192	81957192	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:81957192delG	ENST00000359376.3	+	22	2624	c.2410delG	c.(2410-2412)ggfs	p.G805fs		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	805	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAAGGAGCCCGGGGGCTGGTA	0.582													14	30	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													4	3	---	---	---	---					
HEXIM1	10614	broad.mit.edu	37	17	43226740	43226743	+	Frame_Shift_Del	DEL	GGAG	GGAG	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:43226740_43226743delGGAG	ENST00000332499.2	+	1	2057_2060	c.183_186delGGAG	c.(181-186)ccfs	p.PE61fs		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	61					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTCCGGGGCCGGAGGGGGAAGGGA	0.676											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	49	---	---	---	---					
ZNF320	162967	broad.mit.edu	37	19	53384531	53384539	+	In_Frame_Del	DEL	GCGAAGGTC	GCGAAGGTC	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:53384531_53384539delGCGAAGGTC	ENST00000595635.1	-	8	1341_1349	c.840_848delGACCTTCGC	c.(838-849)aat>aa	p.KTFA280del	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_In_Frame_Del_p.KTFA280del	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGAATTTCGAGCGAAGGTCTTGCCACACT	0.416													17	89	---	---	---	---					
SRRD	402055	broad.mit.edu	37	22	26886165	26886168	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:26886165_26886168delGTAA	ENST00000215917.6	+	5	778		c.e5+1			NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing						rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTGAGGAGAGGTAAGTCTGAGAAT	0.461													7	37	---	---	---	---