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
OR5W2	390148	broad.mit.edu	37	11	55681358	55681358	+	Missense_Mutation	SNP	C	C	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr11:55681358C>A	ENST00000344514.1	-	1	700	c.701G>T	c.(700-702)aGg>aTg	p.R234M		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCTTTGAACCTCCCCTCAGC	0.413000													6	84					1	1	1	1	0
HNRNPK	3190	broad.mit.edu	37	9	86591967	86591967	+	Splice_Site	SNP	C	C	G			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr9:86591967C>G	ENST00000376263.3	-	5	380		c.e5-1		HNRNPK_ENST00000351839.3_Splice_Site|HNRNPK_ENST00000360384.5_Splice_Site|HNRNPK_ENST00000376264.2_Splice_Site|HNRNPK_ENST00000376281.4_Splice_Site	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K						interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCCCAGCATTCTGGAGAAGAT	0.368000													4	43					0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219747106	219747106	+	Missense_Mutation	SNP	C	C	T	rs141074983		TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr2:219747106C>T	ENST00000258411.3	+	2	970	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	113					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGAGACTCGCAACAAGAT	0.577000													5	74					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848079	83848079	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr6:83848079C>G	ENST00000349129.2	+	21	4578	c.4318C>G	c.(4318-4320)Cca>Gca	p.P1440A	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.P1431A|DOPEY1_ENST00000237163.5_Missense_Mutation_p.P1421A	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1440					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TAGTCACATTCCAGTGGACTC	0.373000													11	162					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156624	68156624	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr16:68156624G>C	ENST00000349223.5	+	2	1062	c.838G>C	c.(838-840)Gaa>Caa	p.E280Q	NFATC3_ENST00000575270.1_Missense_Mutation_p.E280Q|NFATC3_ENST00000346183.3_Missense_Mutation_p.E280Q|NFATC3_ENST00000329524.4_Missense_Mutation_p.E280Q|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	280	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTCCAGTGCTGAAGTTTGTTA	0.567000													7	73					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105190	168105190	+	Missense_Mutation	SNP	C	C	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr2:168105190C>A	ENST00000409195.1	+	9	7377	c.7288C>A	c.(7288-7290)Ccc>Acc	p.P2430T	XIRP2_ENST00000295237.9_Missense_Mutation_p.P2430T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2208T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2255					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						ACCCAAACTTCCCAAGCATAT	0.413000													9	119					2.17888e-05	2.33451e-05	1	1	0
CFAP54	144535	broad.mit.edu	37	12	97052065	97052065	+	Nonsense_Mutation	SNP	A	A	T			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr12:97052065A>T	ENST00000524981.3	+	5	754	c.754A>T	c.(754-756)Aag>Tag	p.K252*				Q6ZTY8	CL063_HUMAN		226										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACAGAAGTTCAAGGGCCCAGA	0.418000													28	113					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113207814	113207814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr3:113207814G>A	ENST00000295872.4	-	7	848	c.589C>T	c.(589-591)Cag>Tag	p.Q197*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	197					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GTGTTAGACTGAGAGTTTAGA	0.373000													8	88					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639923	97639923	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr13:97639923G>C	ENST00000298440.1	-	4	334	c.91C>G	c.(91-93)Ctc>Gtc	p.L31V	OXGR1_ENST00000543457.1_Missense_Mutation_p.L31V	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	31						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TGCATCTTGAGTGGGATGTTT	0.418000													6	77					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129360821	129360821	+	Missense_Mutation	SNP	T	T	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chrX:129360821T>A	ENST00000370978.4	-	12	1460	c.1307A>T	c.(1306-1308)cAt>cTt	p.H436L		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						AGTGTTTTCATGGGCTGCTCT	0.348000													16	69					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40696049	40696049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr17:40696049G>A	ENST00000225927.2	+	6	2126	c.2025G>A	c.(2023-2025)tgG>tgA	p.W675*	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	675						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCCCTCGCTGGCGGCTTTTCC	0.592000													3	16					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578507	7578507	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr17:7578507G>C	ENST00000420246.2	-	5	555	c.423C>G	c.(421-423)tgC>tgG	p.C141W	TP53_ENST00000455263.2_Missense_Mutation_p.C141W|TP53_ENST00000413465.2_Missense_Mutation_p.C141W|TP53_ENST00000445888.2_Missense_Mutation_p.C141W|TP53_ENST00000359597.4_Missense_Mutation_p.C141W|TP53_ENST00000269305.4_Missense_Mutation_p.C141W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and 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.C141W(13)|p.C141*(11)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.N131fs*27(2)|p.P142fs*7(1)|p.L137_W146del10(1)|p.C141A(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.C48W(1)|p.C141_P142insXX(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)		GCTGCACAGGGCAGGTCTTGG	0.577000		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)			6	61					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15616177	15616177	+	Silent	SNP	C	C	T			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr5:15616177C>T	ENST00000504595.1	+	2	604	c.123C>T	c.(121-123)agC>agT	p.S41S	FBXL7_ENST00000510662.1_5'UTR|FBXL7_ENST00000329673.7_Silent_p.S29S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	41					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGGCTACCAGCGAAGGTAGGC	0.468000													6	44					0	0	1	0	0
ZNF491	126069	broad.mit.edu	37	19	11917083	11917083	+	Silent	SNP	T	T	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr19:11917083T>C	ENST00000323169.5	+	3	646	c.315T>C	c.(313-315)tgT>tgC	p.C105C	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CTTTTGATTGTAAGGAATGTG	0.393000													15	89					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67075705	67075705	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr11:67075705G>C	ENST00000308127.4	+	9	1124	c.946G>C	c.(946-948)Gac>Cac	p.D316H	SSH3_ENST00000376757.5_Missense_Mutation_p.D316H|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	316					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGACTTCATCGACAACCAGAT	0.672000													19	118					0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44049038	44049038	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr20:44049038G>A	ENST00000279036.6	+	7	916	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PIGT_ENST00000543458.2_Missense_Mutation_p.R223Q|PIGT_ENST00000372689.5_Missense_Mutation_p.R279Q|PIGT_ENST00000279035.9_Missense_Mutation_p.R177Q|PIGT_ENST00000341555.5_Missense_Mutation_p.R85Q|PIGT_ENST00000535404.1_Missense_Mutation_p.R124Q|PIGT_ENST00000545755.1_Missense_Mutation_p.R17Q	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	279					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TCAGAGAGCCGAGTCTATGTG	0.602000													4	36					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815708	31815708	+	Missense_Mutation	SNP	A	A	G			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr10:31815708A>G	ENST00000446923.2	+	9	3234	c.2843A>G	c.(2842-2844)aAa>aGa	p.K948R	ZEB1_ENST00000361642.5_Missense_Mutation_p.K965R|ZEB1_ENST00000320985.10_Missense_Mutation_p.K964R|ZEB1_ENST00000542815.3_Missense_Mutation_p.K897R|ZEB1_ENST00000560721.2_Missense_Mutation_p.K944R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	964					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAATGTGACAAATGTGGAAAG	0.418000													6	58					0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75248499	75248499	+	Missense_Mutation	SNP	A	A	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr4:75248499A>C	ENST00000244869.2	+	4	582	c.416A>C	c.(415-417)tAt>tCt	p.Y139S	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	139					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TCCACATATTATTTCTGCAGA	0.333000													10	110					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135308164	135308164	+	Missense_Mutation	SNP	G	G	T			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chrX:135308164G>T	ENST00000316077.9	-	13	2263	c.2043C>A	c.(2041-2043)gaC>gaA	p.D681E	MAP7D3_ENST00000370663.5_Missense_Mutation_p.D663E|MAP7D3_ENST00000495432.1_5'UTR|MAP7D3_ENST00000370661.1_Missense_Mutation_p.D646E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	681						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTATTTTGGCGTCCCCTTTCT	0.333000													10	36					2.17888e-05	2.33451e-05	1	1	0
MYO1G	64005	broad.mit.edu	37	7	45005368	45005368	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr7:45005368G>A	ENST00000258787.7	-	17	2385	c.2249C>T	c.(2248-2250)gCt>gTt	p.A750V		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	750						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGCCAGGTGAGCCCGCACCTT	0.687000													5	78					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44075033	44075033	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr11:44075033G>C	ENST00000378832.1	+	8	1082	c.1026G>C	c.(1024-1026)atG>atC	p.M342I		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	342							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						ACTCACTGATGAAATACCTGG	0.428000													6	67					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89524623	89524623	+	Missense_Mutation	SNP	A	A	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr1:89524623A>C	ENST00000370473.4	-	5	751	c.532T>G	c.(532-534)Ttt>Gtt	p.F178V		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	178					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTCCACACAAAGTCTGGGAAG	0.473000													9	123					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42509121	42509121	+	Silent	SNP	T	T	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr4:42509121T>C	ENST00000381668.5	-	23	2229	c.1998A>G	c.(1996-1998)caA>caG	p.Q666Q	ATP8A1_ENST00000264449.10_Silent_p.Q651Q	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	666					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTTCAGGCACTTGATCTTGTA	0.363000													19	114					0	0	1	0	0
IGLV2-18	28814	broad.mit.edu	37	22	23077441	23077441	+	RNA	SNP	G	G	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr22:23077441G>C	ENST00000390310.2	+	0	231																											TATGAGGTCAGTAATCGGCCC	0.582000													13	260					0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102395682	102395682	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr11:102395682C>G	ENST00000260227.4	-	4	650	c.598G>C	c.(598-600)Gat>Cat	p.D200H		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	200					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		CTGCTACCATCCGTCCAGCGT	0.448000													8	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542882	179542882	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr2:179542882G>C	ENST00000589042.1	-	145	34188	c.33964C>G	c.(33964-33966)Ccg>Gcg	p.P11322A	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11005A|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10078A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11005	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)			ACTTTTTTCGGAACAGGTGTT	0.363000													11	89					0	0	1	0	0
CXCL2	2920	broad.mit.edu	37	4	74964334	74964334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr4:74964334C>A	ENST00000508487.2	-	3	464	c.292G>T	c.(292-294)Gaa>Taa	p.E98*	CXCL2_ENST00000296031.4_5'UTR	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	98					chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity			lung(1)	1	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			AGCATCTTTTCGATGATTTTC	0.463000													6	77					0.00198382	0.00205223	1	1	0
IL12B	3593	broad.mit.edu	37	5	158747501	158747501	+	Silent	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr5:158747501G>A	ENST00000231228.2	-	5	965	c.510C>T	c.(508-510)tgC>tgT	p.C170C		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	170					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGCAGCTCCGCACGTCACCC	0.537000													15	65					0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56868884	56868884	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr12:56868884C>T	ENST00000311966.4	-	10	1218	c.940G>A	c.(940-942)Gag>Aag	p.E314K	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	314					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTTTCCTTCTCTGACTGGAAT	0.463000													12	136					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160235830	160235830	+	Missense_Mutation	SNP	A	A	T			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr4:160235830A>T	ENST00000264431.4	+	3	699	c.280A>T	c.(280-282)Att>Ttt	p.I94F	RAPGEF2_ENST00000504604.1_3'UTR	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	94					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGAAGAAGACATTGAGAGAGC	0.498000													9	67					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172062040	172062040	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr3:172062040G>C	ENST00000336824.4	+	19	2341	c.2242G>C	c.(2242-2244)Gat>Cat	p.D748H	FNDC3B_ENST00000415807.2_Missense_Mutation_p.D748H|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D748H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	748	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGCTCTGAATGATGGAGGGGT	0.517000													8	104					0	0	1	0	0
DEFB124	245937	broad.mit.edu	37	20	30053417	30053417	+	Silent	SNP	A	A	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr20:30053417A>C	ENST00000317676.2	-	2	107	c.108T>G	c.(106-108)acT>acG	p.T36T		NM_001037500.1	NP_001032589.1	Q8NES8	DB124_HUMAN	defensin, beta 124	36					defense response to bacterium	extracellular region						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTGTGCAGTAAGTTTGGCAGG	0.527000													20	87					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36291231	36291231	+	Missense_Mutation	SNP	G	G	A	rs151027628		TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr6:36291231G>A	ENST00000437635.2	-	8	1487	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	437										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCTGAAGCTCGACCTTTTTTC	0.562000													13	229					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60565959	60565959	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr11:60565959G>A	ENST00000308287.1	+	7	790	c.694G>A	c.(694-696)Ggc>Agc	p.G232S		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	232						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TGTGATTCAAGGCGACGCACA	0.552000													8	130					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12542505	12542505	+	Missense_Mutation	SNP	T	T	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr19:12542505T>A	ENST00000301547.5	-	4	678	c.481A>T	c.(481-483)Agg>Tgg	p.R161W	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	161					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GTGTGAAGCCTCTCATGTGTT	0.438000													14	141					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35687329	35687329	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr17:35687329G>A	ENST00000353139.5	-	3	603	c.122C>T	c.(121-123)cCa>cTa	p.P41L	ACACA_ENST00000588142.1_Missense_Mutation_p.P4L|ACACA_ENST00000416895.1_Missense_Mutation_p.P4L|ACACA_ENST00000394406.2_Missense_Mutation_p.P4L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	4					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)	CAAGGGAGATGGTTCATCCAT	0.433000													15	81					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975129	31975129	+	RNA	SNP	T	T	C	rs113153064	by1000genomes	TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr6:31975129T>C	ENST00000342991.6	+	0	1252					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										AAGAGGGCTCTGGACAGCTCC	0.607000													6	6					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100209980	100209980	+	Missense_Mutation	SNP	C	C	T	rs140781377		TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr2:100209980C>T	ENST00000317233.4	-	14	2378	c.2143G>A	c.(2143-2145)Ggg>Agg	p.G715R	AFF3_ENST00000409579.1_Missense_Mutation_p.G740R|AFF3_ENST00000409236.1_Missense_Mutation_p.G715R|AFF3_ENST00000356421.2_Missense_Mutation_p.G740R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	715					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCACTGCCCCCGTTGGCAGCG	0.627000													13	138					0	0	1	0	0
FAM71F1	84691	broad.mit.edu	37	7	128355590	128355590	+	Missense_Mutation	SNP	C	C	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr7:128355590C>A	ENST00000315184.5	+	1	148	c.95C>A	c.(94-96)gCc>gAc	p.A32D	FAM71F1_ENST00000485070.1_Intron|FAM71F1_ENST00000469348.1_Intron	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	32										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCCCTGAATGCCTGGGAAGAA	0.507000													16	92					3.52763e-06	3.87179e-06	1	1	0
IFI27L1	122509	broad.mit.edu	37	14	94563265	94563265	+	Nonsense_Mutation	SNP	C	C	T	rs79237142	byFrequency	TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr14:94563265C>T	ENST00000553664.1	+	3	174	c.49C>T	c.(49-51)Cga>Tga	p.R17*	IFI27L1_ENST00000556381.1_5'UTR|IFI27L1_ENST00000393115.3_5'UTR|IFI27L1_ENST00000553350.1_3'UTR|IFI27L1_ENST00000555523.1_5'UTR|IFI27L1_ENST00000557218.1_5'UTR|IFI27L1_ENST00000557066.1_5'UTR|IFI27L1_ENST00000554544.1_5'UTR|IFI27L1_ENST00000554562.1_5'UTR			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	0						integral to membrane				lung(2)	2						GGAGGCTCACCGAGGCGAAGG	0.507000													3	24					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241798090	241798090	+	Missense_Mutation	SNP	T	T	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr1:241798090T>C	ENST00000366553.1	-	1	1142	c.979A>G	c.(979-981)Aaa>Gaa	p.K327E	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	327					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTTTTAGTTTTTAAGTATTCT	0.343000													8	144					0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86822223	86822223	+	Silent	SNP	C	C	T			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr1:86822223C>T	ENST00000359242.3	-	14	1703	c.1422G>A	c.(1420-1422)gcG>gcA	p.A474A	ODF2L_ENST00000370567.1_Silent_p.A445A|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000370566.3_Intron|ODF2L_ENST00000294678.2_Silent_p.A445A|ODF2L_ENST00000317336.7_Silent_p.A474A|ODF2L_ENST00000394731.1_Silent_p.A314A	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	474						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TCCGTTCCGCCGCCGTCAAGG	0.547000													6	68					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160697317	160697317	+	Missense_Mutation	SNP	G	G	T			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr2:160697317G>T	ENST00000263636.4	-	25	3457	c.3430C>A	c.(3430-3432)Cct>Act	p.P1144T	LY75_ENST00000554112.1_Missense_Mutation_p.P1144T|LY75_ENST00000553424.1_Missense_Mutation_p.P1144T|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P1144T|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P1144T	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGCTGGTAAGGGTCCGTGATG	0.468000													16	138					2.23348e-06	2.48165e-06	1	1	0
USP54	159195	broad.mit.edu	37	10	75276186	75276186	+	Missense_Mutation	SNP	C	C	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr10:75276186C>A	ENST00000339859.4	-	19	4098	c.3998G>T	c.(3997-3999)gGc>gTc	p.G1333V	RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.G515V|USP54_ENST00000428547.1_Missense_Mutation_p.G1183V|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.G421V|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.G1333V			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1333					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TCCAGAACAGCCAGCTTGAGA	0.527000													8	68					0.00307968	0.00314967	1	1	0
RGS9	8787	broad.mit.edu	37	17	63221242	63221242	+	Silent	SNP	C	C	G			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr17:63221242C>G	ENST00000449996.3	+	18	1593	c.1521C>G	c.(1519-1521)ccC>ccG	p.P507P	RGS9_ENST00000443584.3_Silent_p.P507P|RGS9_ENST00000262406.9_Silent_p.P510P	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	510					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TCGCCTCACCCAGCCGCTTCA	0.657000													14	198					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542910	179542910	+	Silent	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr2:179542910G>A	ENST00000589042.1	-	145	34160	c.33936C>T	c.(33934-33936)atC>atT	p.I11312I	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.I10995I|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I10068I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10995	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)			TTTCTTCTGGGATGAGCTTCT	0.353000													13	95					0	0	1	0	0
C17orf82	388407	broad.mit.edu	37	17	59489802	59489802	+	Nonsense_Mutation	SNP	G	G	T			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr17:59489802G>T	ENST00000335108.2	+	1	691	c.466G>T	c.(466-468)Gag>Tag	p.E156*		NM_203425.1	NP_982249.1	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	156										cervix(1)|lung(1)	2						GTTTCCCAGCGAGTCCTCTTG	0.682000											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	15					0.000274275	0.000290409	1	1	0
DGCR8	54487	broad.mit.edu	37	22	20073592	20073592	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr22:20073592C>T	ENST00000351989.3	+	2	535	c.106C>T	c.(106-108)Cca>Tca	p.P36S	DGCR8_ENST00000407755.1_Missense_Mutation_p.P36S|MIR1306_ENST00000408439.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.P36S	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	36	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TGAGCAGTCTCCACCACCTCC	0.632000													9	87					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	17					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5998505	5998505	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr17:5998505G>A	ENST00000574946.1	+	5	1201	c.811G>A	c.(811-813)Gtg>Atg	p.V271M	WSCD1_ENST00000574232.1_Missense_Mutation_p.V271M|WSCD1_ENST00000317744.5_Missense_Mutation_p.V271M|WSCD1_ENST00000573634.1_Missense_Mutation_p.V155M|WSCD1_ENST00000539421.1_Missense_Mutation_p.V271M			Q658N2	WSCD1_HUMAN	WSC domain containing 1	271	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACAGGCCAATGTGACCGTGGG	0.552000													6	101					0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71260029	71260029	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr11:71260029G>A	ENST00000528743.2	+	1	564	c.326G>A	c.(325-327)tGc>tAc	p.C109Y		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	109	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						TGCTCCCAGTGCAGCTGCTGT	0.622000													14	287					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802337	24802337	+	Missense_Mutation	SNP	T	T	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr16:24802337T>C	ENST00000395799.3	+	6	2503	c.2374T>C	c.(2374-2376)Tgg>Cgg	p.W792R	TNRC6A_ENST00000315183.7_Missense_Mutation_p.W792R	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	792	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGCTCTGAGGTGGGGAGATTC	0.498000													6	33					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846060	18846060	+	RNA	SNP	A	A	G	rs57772235		TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr22:18846060A>G	ENST00000412938.1	+	0	3418																											CGGCCACCCCAGACATGCGGT	0.652000													6	54					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72975148	72975148	+	Silent	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr8:72975148G>A	ENST00000262209.4	-	6	900	c.693C>T	c.(691-693)caC>caT	p.H231H		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	231						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TAAAGTTAATGTGCAACTGTC	0.363000													7	67					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6651238	6651238	+	Nonsense_Mutation	SNP	G	G	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr11:6651238G>C	ENST00000299441.3	-	10	5198	c.4787C>G	c.(4786-4788)tCa>tGa	p.S1596*		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1596	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGTGCTTGAGTGCAGCCG	0.662000													4	43					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23344728	23344728	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr14:23344728C>T	ENST00000359591.4	+	5	1262	c.571C>T	c.(571-573)Cct>Tct	p.P191S	LRP10_ENST00000546834.1_Missense_Mutation_p.P191S	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	191					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCCCTCCCTGCCTTGCAATGT	0.597000													7	118					0	0	1	0	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371493	114371493	+	RNA	SNP	C	C	T	rs12351897	by1000genomes	TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr9:114371493C>T	ENST00000374304.1	-	0	306																											CTTCTCACATCGTTGTTGGGG	0.502000													11	142					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													4	44					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2976043	2976043	+	Missense_Mutation	SNP	T	T	C			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr8:2976043T>C	ENST00000602557.1	-	43	6866	c.6311A>G	c.(6310-6312)tAc>tGc	p.Y2104C	CSMD1_ENST00000400186.3_Missense_Mutation_p.Y2104C|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y2103C|CSMD1_ENST00000520002.1_Missense_Mutation_p.Y2104C|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y2103C|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y2104C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2104	Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCCACGCTGTAATCCGAGTT	0.428000													17	92					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256845	52256845	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr3:52256845G>A	ENST00000597542.1	-	9	2516	c.1559C>T	c.(1558-1560)tCg>tTg	p.S520L	TLR9_ENST00000360658.2_Missense_Mutation_p.S496L|TLR9_ENST00000494383.1_Silent_p.L649L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	496					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CTGCAGGTGCGAGAGCTGGGC	0.602000													17	62					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20028993	20028993	+	Silent	SNP	G	G	A	rs140304472	byFrequency	TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chrX:20028993G>A	ENST00000379651.3	-	15	2145	c.2127C>T	c.(2125-2127)gaC>gaT	p.D709D	MAP7D2_ENST00000443379.3_Silent_p.D664D|MAP7D2_ENST00000379643.5_Silent_p.D750D|MAP7D2_ENST00000452324.3_Silent_p.D657D|MAP7D2_ENST00000543767.1_Silent_p.D594D	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	709										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TGTTACAGTCGTCCAGGCTGA	0.438000													5	54					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008979	120008979	+	Silent	SNP	T	T	C	rs871733	by1000genomes	TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chrX:120008979T>C	ENST00000371311.3	-	1	800	c.546A>G	c.(544-546)ccA>ccG	p.P182P		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	182										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCGCCTTCTGGGGCTGCAG	0.711000													5	57					0	0	1	0	0
EMC8	10328	broad.mit.edu	37	16	85813344	85813344	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr16:85813344C>G	ENST00000253457.3	-	5	847	c.603G>C	c.(601-603)gaG>gaC	p.E201D	EMC8_ENST00000435200.2_3'UTR	NM_006067.4	NP_006058.1			ER membrane protein complex subunit 8																		CTTTATTGATCTCTGGGTTTG	0.507000													6	100					0	0	1	0	0
BTBD9	114781	broad.mit.edu	37	6	38545386	38545386	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr6:38545386G>A	ENST00000481247.1	-	6	1295	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	BTBD9_ENST00000419706.2_Missense_Mutation_p.R323C|BTBD9_ENST00000314100.6_Missense_Mutation_p.R314C|BTBD9_ENST00000403056.1_Missense_Mutation_p.R382C|BTBD9_ENST00000408958.1_Missense_Mutation_p.R314C	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	382					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CTGCAGACACGGGCTGGAAAA	0.348000													5	76					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109743471	109743471	+	Silent	SNP	C	C	T			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr1:109743471C>T	ENST00000369939.3	+	21	3105	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.I887I	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	974					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ACGACCTCATCTTTACCAGCA	0.542000											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	77					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901155	40901155	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr19:40901155G>A	ENST00000324001.7	-	7	3374	c.3104C>T	c.(3103-3105)gCa>gTa	p.A1035V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1035					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAGTTCTGCTGCCTCAGTGTC	0.627000													7	98					0	0	1	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700514	700514	+	RNA	DEL	A	A	-			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr1:700514delA	ENST00000428504.1	-	0	1039					NR_033908.1																						actccatctcaaaaaaaaaaa	0.453													2	4	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													4	6	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546820	11546834	+	In_Frame_Del	DEL	TCCTTGTGGGGGTGG	TCCTTGTGGGGGTGG	-			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr12:11546820_11546834delTCCTTGTGGGGGTGG	ENST00000389362.4	-	3	213_227	c.178_192delCCACCCCCACAAGGA	c.(178-192)del	p.PPPQG60del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGC	0.581													7	406	---	---	---	---					
NTHL1	4913	broad.mit.edu	37	16	2097756	2097756	+	Frame_Shift_Del	DEL	C	C	-			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr16:2097756delC	ENST00000219066.1	-	1	111	c.93delG	c.(91-93)ggfs	p.G31fs	TSC2_ENST00000219476.3_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	31					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CCTCCCTACACCCCCGCGGCC	0.736								Base excision repair (BER), DNA glycosylases					2	4	---	---	---	---					
C18orf8	29919	broad.mit.edu	37	18	21104096	21104096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr18:21104096delC	ENST00000269221.3	+	11	1074	c.964delC	c.(964-966)ctfs	p.P322fs	C18orf8_ENST00000590868.1_Frame_Shift_Del_p.P274fs	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	322										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTTGTAGGTCCTGCTGCCGT	0.443													7	49	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51165777	51165779	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-93-A4JO-01A-21D-A24P-08	TCGA-93-A4JO-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19b75c03-0e58-4f28-a280-a4829ee6f46f	344d569c-d8cc-40ae-b10e-18ef034ff5b4	g.chr19:51165777_51165779delGGA	ENST00000293441.1	-	23	5947_5949	c.5929_5931delTCC	c.(5929-5931)del	p.S1977del	SHANK1_ENST00000359082.3_In_Frame_Del_p.S1968del|SHANK1_ENST00000391813.1_In_Frame_Del_p.S1364del|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_In_Frame_Del_p.S1985del|SHANK1_ENST00000483981.2_5'UTR	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1977	Poly-Ser.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGTGGACGTGGAGGAGGAGGAG	0.734													2	4	---	---	---	---