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
KDM1A	23028	broad.mit.edu	37	1	23381588	23381589	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:23381588_23381589delCA	uc001bgi.2	+	4	906_907	c.757_758delCA	c.(757-759)cacfs	p.H253fs	KDM1A_uc001bgj.2_Frame_Shift_Del_p.H273fs	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	253	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCACCGAGTTCACAGTTATTTA	0.371												
TARS2	80222	broad.mit.edu	37	1	150471051	150471051	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:150471051C>T	uc001euq.3	+	10	1319	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Missense_Mutation_p.R356W|TARS2_uc009wlt.3_Missense_Mutation_p.R64W|TARS2_uc009wls.3_Missense_Mutation_p.R308W	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	438					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGCTCTACACCGGGCCGAAGC	0.632												
TRIM11	81559	broad.mit.edu	37	1	228582635	228582635	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:228582635G>A	uc001hss.3	-	5	1433	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	TRIM11_uc010pvx.2_Missense_Mutation_p.A392V	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	393	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TGGAGCCAAGGCCCGTTCCGA	0.597												
COG2	22796	broad.mit.edu	37	1	230820980	230820980	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:230820980G>C	uc001htw.3	+	11	1529	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	COG2_uc001htx.3_Missense_Mutation_p.E460Q|COG2_uc010pwc.2_Missense_Mutation_p.E333Q	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	460					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTTTGTCAATGAGGTAAGGGC	0.423												
CTGLF12P	414224	broad.mit.edu	37	10	49218553	49218553	+	Missense_Mutation	SNP	T	T	C	rs77581903		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr10:49218553T>C	uc001jgd.3	-	7	1745	c.1586A>G	c.(1585-1587)cAt>cGt	p.H529R	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		ATATTTGGAATGGATCCAGCG	0.567												
PTEN	5728	broad.mit.edu	37	10	89692835	89692835	+	Missense_Mutation	SNP	G	G	T	rs57374291		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr10:89692835G>T	uc001kfb.3	+	4	1351	c.319G>T	c.(319-321)Gat>Tat	p.D107Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	107	Phosphatase tensin-type.		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.D107Y(6)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(2)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
NFKB2	4791	broad.mit.edu	37	10	104158521	104158521	+	Silent	SNP	G	G	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr10:104158521G>T	uc001kvb.3	+	11	1282	c.1017G>T	c.(1015-1017)cgG>cgT	p.R339R	NFKB2_uc001kva.3_Silent_p.R339R|NFKB2_uc010qqk.1_Silent_p.R339R|NFKB2_uc001kvd.3_Silent_p.R339R|NFKB2_uc009xxc.3_Silent_p.R339R	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	339	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		AGCGGAAGCGGAGGAAGGCCT	0.637			T	IGH@	B-NHL							
MUC5B	727897	broad.mit.edu	37	11	1158988	1158988	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:1158988T>C	uc021qbr.1	+	9	1213	c.1166T>C	c.(1165-1167)gTc>gCc	p.V389A				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	380					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)		ACCGGCTGTGTCCCTGTGTCA	0.662												
OR51L1	119682	broad.mit.edu	37	11	5020755	5020755	+	Silent	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:5020755T>C	uc010qyu.2	+	0	543	c.543T>C	c.(541-543)tgT>tgC	p.C181C		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGCCTTCTGTTTGCACCAGG	0.473												
OR4D6	219983	broad.mit.edu	37	11	59225156	59225156	+	Silent	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59225156G>A	uc010rku.2	+	0	723	c.723G>A	c.(721-723)acG>acA	p.T241T		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCACGTGCACGTCCCACATGC	0.557												
OR4D11	219986	broad.mit.edu	37	11	59271382	59271382	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59271382A>T	uc001noa.1	+	0	334	c.334A>T	c.(334-336)Att>Ttt	p.I112F		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGGGCAGACATTTTTTCTCT	0.473												
OR4D11	219986	broad.mit.edu	37	11	59271391	59271391	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59271391C>G	uc001noa.1	+	0	343	c.343C>G	c.(343-345)Ctc>Gtc	p.L115V		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CATTTTTTCTCTCTCTGTGAT	0.488												
CHRDL2	25884	broad.mit.edu	37	11	74414523	74414523	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:74414523G>A	uc001ovh.3	-	7	1026	c.773C>T	c.(772-774)aCg>aTg	p.T258M	CHRDL2_uc001ovg.3_Missense_Mutation_p.T142M|CHRDL2_uc001ovi.3_Missense_Mutation_p.T258M|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Intron	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	258	VWFC 3.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GTGGGAGTACGTCTTCCCGCC	0.657												
EXPH5	23086	broad.mit.edu	37	11	108383232	108383232	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:108383232delC	uc001pkk.3	-	5	3113	c.3002delG	c.(3001-3003)agcfs	p.S1001fs	EXPH5_uc010rvz.2_Frame_Shift_Del_p.S845fs|EXPH5_uc010rvy.2_Frame_Shift_Del_p.S813fs	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1001					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCAATGAGGCTCCTGTGATC	0.363												
SIK2	23235	broad.mit.edu	37	11	111590592	111590592	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:111590592G>A	uc001plt.3	+	9	1478	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	454					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTCCATTGACGAAGGGCTGGA	0.587												
ZBTB44	29068	broad.mit.edu	37	11	130130851	130130851	+	Silent	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:130130851A>T	uc001qga.3	-	1	1312	c.918T>A	c.(916-918)ccT>ccA	p.P306P	ZBTB44_uc001qgb.4_Silent_p.P306P|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qgc.1_Silent_p.P306P|ZBTB44_uc001qfz.3_Silent_p.P306P	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ATGCACTGACAGGCTGGGACA	0.473												
ANO2	57101	broad.mit.edu	37	12	5672695	5672695	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:5672695T>A	uc001qnm.2	-	25	2839	c.2767A>T	c.(2767-2769)Att>Ttt	p.I923F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	928						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.M923I(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATGTCTGGAATCATCCAGTCC	0.542												
PLEKHG6	55200	broad.mit.edu	37	12	6436676	6436676	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:6436676C>T	uc001qnr.3	+	14	2075	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	PLEKHG6_uc010sew.2_Missense_Mutation_p.R643C|PLEKHG6_uc010sex.2_Missense_Mutation_p.R611C	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	643					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGCTCCTCAACGCCGAAGCGC	0.642												
HCFC2	29915	broad.mit.edu	37	12	104461817	104461817	+	Silent	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:104461817T>C	uc001tkj.4	+	2	508	c.405T>C	c.(403-405)taT>taC	p.Y135Y	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	135					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCTCTTTATATGGTAACAAAT	0.418												
RB1	5925	broad.mit.edu	37	13	49039230	49039230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr13:49039230C>T	uc001vcb.3	+	21	2474	c.2308C>T	c.(2308-2310)Cag>Tag	p.Q770*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	770	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)|p.L769fs*2(2)|p.Q770fs*24(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAATATTTTGCAGTATGCTTC	0.323		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
KCNRG	283518	broad.mit.edu	37	13	50589726	50589726	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr13:50589726C>T	uc001vdu.3	+	0	337	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Missense_Mutation_p.R33C|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.	33	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TCGTTTGGCACGCATGTTAGA	0.408												
TM9SF1	10548	broad.mit.edu	37	14	24661549	24661549	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr14:24661549C>T	uc010tob.1	-	7	2320	c.1686G>A	c.(1684-1686)atG>atA	p.M562I	IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc001wmz.2_5'Flank|TM9SF1_uc001wnb.1_Missense_Mutation_p.M327I|TM9SF1_uc010toa.1_Missense_Mutation_p.M240I|TM9SF1_uc001wnc.3_Missense_Mutation_p.M327I	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	327					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CCAGCAGTGCCATGACAATAA	0.537												
SERPINA4	5267	broad.mit.edu	37	14	95033524	95033524	+	Silent	SNP	T	T	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr14:95033524T>A	uc010avd.3	+	2	1252	c.978T>A	c.(976-978)atT>atA	p.I326I	SERPINA4_uc001ydk.3_Silent_p.I289I|SERPINA4_uc001ydl.3_Silent_p.I289I	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	289					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGAGGGAGATTGAAGAGGTTC	0.468												
PLA2G4F	255189	broad.mit.edu	37	15	42439928	42439928	+	Silent	SNP	A	A	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr15:42439928A>C	uc001zoz.3	-	11	1184	c.1092T>G	c.(1090-1092)ggT>ggG	p.G364G	PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_5'UTR|PLA2G4F_uc001zpa.3_Silent_p.G115G|PLA2G4F_uc010bcr.3_Silent_p.G115G|PLA2G4F_uc010bcs.3_Silent_p.G151G	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	364	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.G364G(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCGGGTTCCACCCCCGGAAC	0.547												
MAP1A	4130	broad.mit.edu	37	15	43817784	43817784	+	Silent	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr15:43817784C>T	uc001zrt.3	+	3	4580	c.4113C>T	c.(4111-4113)gaC>gaT	p.D1371D		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1371						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)	AGCAGAAAGACAAAACTCTGG	0.453												
RNF111	54778	broad.mit.edu	37	15	59323149	59323149	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr15:59323149T>C	uc002afv.3	+	1	407	c.128T>C	c.(127-129)aTt>aCt	p.I43T	RNF111_uc002afs.3_Missense_Mutation_p.I43T|RNF111_uc002aft.3_Missense_Mutation_p.I43T|RNF111_uc002afu.3_Missense_Mutation_p.I43T|RNF111_uc002afw.3_Missense_Mutation_p.I43T	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	43					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCAGAGCCCATTGGGGCAGCC	0.438												
TP53	7157	broad.mit.edu	37	17	7577520	7577520	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr17:7577520A>C	uc002gim.2	-	6	955	c.761T>G	c.(760-762)aTc>aGc	p.I254S	TP53_uc002gig.1_Missense_Mutation_p.I254S|TP53_uc002gih.3_Missense_Mutation_p.I254S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I122S|TP53_uc010cnf.1_Missense_Mutation_p.I122S|TP53_uc002gii.1_Missense_Mutation_p.I122S|TP53_uc010cni.1_Missense_Mutation_p.I254S|TP53_uc010cnh.1_Missense_Mutation_p.I254S|TP53_uc002gij.2_Missense_Mutation_p.I254S|DL476366_uc021tpf.1_Non-coding_Transcript|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I161S|TP53_uc002gio.2_Missense_Mutation_p.I122S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	254	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in 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.I254S(12)|p.L252_I254delLTI(8)|p.0?(8)|p.I254F(7)|p.I254T(6)|p.I254N(6)|p.I254D(6)|p.I254V(5)|p.T253S(5)|p.I254fs*10(5)|p.T253_I255del(4)|p.I254del(4)|p.I251_T253delILT(4)|p.T253I(3)|p.T253A(3)|p.T253fs*11(3)|p.T253P(3)|p.T253N(2)|p.T253T(2)|p.T253fs*91(2)|p.I254fs*7(2)|p.I254_T256del(2)|p.R249_T256delRPILTIIT(2)|p.L252_T253delLT(1)|p.P250_T253delPILT(1)|p.T253fs*92(1)|p.I254I(1)|p.?(1)|p.T253del(1)|p.I254fs*91(1)|p.T253fs*?(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)		CAGTGTGATGATGGTGAGGAT	0.587		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)		
DHRS11	79154	broad.mit.edu	37	17	34951507	34951507	+	Missense_Mutation	SNP	G	G	A	rs148449399		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr17:34951507G>A	uc002hnd.3	+	1	468	c.254G>A	c.(253-255)cGt>cAt	p.R85H		NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 11 (DHRS11), mRNA.	85						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						TCAGCTATCCGTTCTCAGCAC	0.537												
LAMA3	3909	broad.mit.edu	37	18	21511114	21511114	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr18:21511114C>T	uc002kuq.3	+	64	8611	c.8525C>T	c.(8524-8526)aCg>aTg	p.T2842M	LAMA3_uc002kur.3_Missense_Mutation_p.T2786M|LAMA3_uc002kus.4_Missense_Mutation_p.T1233M|LAMA3_uc002kut.4_Missense_Mutation_p.T1177M	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2842	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCCACAGACGTATATGGAT	0.428												
DSC3	1825	broad.mit.edu	37	18	28604418	28604418	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr18:28604418A>T	uc002kwj.4	-	5	827	c.672T>A	c.(670-672)gaT>gaA	p.D224E	DSC3_uc002kwi.4_Missense_Mutation_p.D224E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	224	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGAGGGGCAGATCTGCTGAAT	0.398												
GNA15	2769	broad.mit.edu	37	19	3151776	3151776	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:3151776G>A	uc002lxf.2	+	3	815	c.557G>A	c.(556-558)cGc>cAc	p.R186H		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	186					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R186H(2)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CTCCGCAGCCGCATGCCCACC	0.647												
ANKRD24	170961	broad.mit.edu	37	19	4207777	4207777	+	Splice_Site	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:4207777G>A	uc010dtt.1	+	10	921	c.645_splice	c.e10-1	p.R215_splice	ANKRD24_uc002lzs.2_Splice_Site_p.R186_splice|ANKRD24_uc002lzt.2_Splice_Site_p.R187_splice	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	215										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TCCCCTGGTAGGACGGCCCTG	0.682											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CACNA1A	773	broad.mit.edu	37	19	13355996	13355996	+	Silent	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:13355996C>T	uc002mwy.3	-	31	5186	c.4950_splice	c.e31+1	p.G1650_splice	CACNA1A_uc002mwx.3_Splice_Site_p.G356_splice|CACNA1A_uc010dzc.2_Splice_Site_p.G1176_splice|CACNA1A_uc010xnd.2_Splice_Site_p.G1653_splice|CACNA1A_uc021ups.1_Splice_Site_p.G1650_splice|CACNA1A_uc010xne.2_Splice_Site_p.G1653_splice|CACNA1A_uc010dze.2_Splice_Site_p.G1650_splice|CACNA1A_uc021upt.1_Splice_Site_p.G1651_splice|CACNA1A_uc002mwv.3_Splice_Site_p.G167_splice	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1651					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAGACTTACCCCAAACTCAG	0.597												
ATP4A	495	broad.mit.edu	37	19	36051416	36051416	+	Silent	SNP	G	G	A	rs149880813		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:36051416G>A	uc002oal.1	-	5	665	c.636C>T	c.(634-636)gcC>gcT	p.A212A	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	212					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)	TGCGGATGTCGGCGGGCACTC	0.622												
EPS8L1	54869	broad.mit.edu	37	19	55593671	55593671	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:55593671C>T	uc002qis.4	+	10	1123	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	EPS8L1_uc010ess.1_Missense_Mutation_p.P322L|EPS8L1_uc010est.1_Missense_Mutation_p.P340L|EPS8L1_uc010yfr.2_Missense_Mutation_p.P276L|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Missense_Mutation_p.P213L|EPS8L1_uc002qiv.3_5'UTR|EPS8L1_uc002qiw.3_Missense_Mutation_p.P87L	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	340						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATCGCCGACCCCTCCTCTCCG	0.731												
ZFP28	140612	broad.mit.edu	37	19	57066095	57066095	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:57066095T>G	uc002qnj.3	+	7	2012	c.1941T>G	c.(1939-1941)tgT>tgG	p.C647W	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCTATGAATGTAAGGTTTGTA	0.458												
LOC401010	401010	broad.mit.edu	37	2	132201653	132201653	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:132201653C>G	uc002tst.2	-	0	815	c.349G>C	c.(349-351)Gtg>Ctg	p.V117L						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GCCGCCAACACCATCGTCTCT	0.602												
THSD7B	80731	broad.mit.edu	37	2	137814764	137814764	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:137814764C>T	uc002tva.1	+	1	821	c.821C>T	c.(820-822)tCg>tTg	p.S274L	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S164L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGGCAGGTTTCGTGTACAAGA	0.363												
OBFC2A	64859	broad.mit.edu	37	2	192546717	192546717	+	Silent	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:192546717G>A	uc002usx.3	+	2	756	c.276G>A	c.(274-276)agG>agA	p.R92R	OBFC2A_uc021vuf.1_Non-coding_Transcript|OBFC2A_uc002usw.3_Silent_p.R12R|OBFC2A_uc002usy.3_Non-coding_Transcript|OBFC2A_uc021vug.1_5'Flank	NM_001031716	NP_001241665	Q96AH0	SOSB2_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 2A (OBFC2A), transcript variant 1, mRNA.	92					double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding			kidney(2)|large_intestine(2)|lung(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)			ATACTGGAAGGGGTGGTGAAC	0.289												
RPE	6120	broad.mit.edu	37	2	210881273	210881273	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:210881273G>A	uc002vdn.3	+	3	419	c.385G>A	c.(385-387)Gca>Aca	p.A129T	RPE_uc002vdo.3_Missense_Mutation_p.A79T|RPE_uc002vdp.3_Missense_Mutation_p.A76T|RPE_uc010zjf.2_Missense_Mutation_p.A129T|RPE_uc010fup.3_Missense_Mutation_p.A61T|RPE_uc002vdq.3_Missense_Mutation_p.A79T|RPE_uc002vdr.3_Intron	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	Homo sapiens ribulose-5-phosphate-3-epimerase (RPE), transcript variant 1, mRNA.	129					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TGAGTATTTGGCACCATGGGC	0.398												
NSFL1C	55968	broad.mit.edu	37	20	1424444	1424444	+	Silent	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr20:1424444G>A	uc002wfc.3	-	8	1931	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	NSFL1C_uc021vzq.1_Silent_p.L241L|NSFL1C_uc002wfe.3_Silent_p.L324L	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	355	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTTCCTTCAGGGTCTGGCTC	0.582												
NISCH	11188	broad.mit.edu	37	3	52521429	52521440	+	In_Frame_Del	DEL	GAGGAGGAGGAA	GAGGAGGAGGAA	-			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr3:52521429_52521440delGAGGAGGAGGAA	uc003ded.4	+	15	2055_2066	c.1921_1932delGAGGAGGAGGAA	c.(1921-1932)gaggaggaggaadel	p.EEEE641del	NISCH_uc003dee.4_In_Frame_Del_p.EEEE130del|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	641	Glu-rich.|Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ggaggaggatgaggaggaggaagaagaggagg	0.651												
MAN2B2	23324	broad.mit.edu	37	4	6598876	6598876	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:6598876G>A	uc003gjf.1	+	7	1130	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H	MAN2B2_uc003gje.1_Missense_Mutation_p.R365H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R314H	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	365			R -> C (in dbSNP:rs6858328).		mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TACACGTCCCGCAGCTCACTG	0.632												
KIT	3815	broad.mit.edu	37	4	55561826	55561826	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:55561826T>A	uc010igr.3	+	1	303	c.216T>A	c.(214-216)gaT>gaA	p.D72E	KIT_uc010igs.3_Missense_Mutation_p.D72E	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	72	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATCCTGGATGAAACGAATG	0.463		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors			
BANK1	55024	broad.mit.edu	37	4	102816534	102816534	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:102816534T>C	uc003hvy.4	+	5	1250	c.976T>C	c.(976-978)Tct>Cct	p.S326P	BANK1_uc003hvx.4_Missense_Mutation_p.S311P|BANK1_uc010ill.3_Missense_Mutation_p.S193P|BANK1_uc003hvz.4_Missense_Mutation_p.S296P	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	326	DBB.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGAGTTCCAGTCTCTTCAAAC	0.303												
OTUD4	54726	broad.mit.edu	37	4	146059760	146059760	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:146059760G>A	uc003ika.4	-	20	2110	c.1972C>T	c.(1972-1974)Cct>Tct	p.P658S		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	722							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGGTGCAGAGGGTACAGGTAA	0.488												
DNAH5	1767	broad.mit.edu	37	5	13841119	13841119	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:13841119T>C	uc003jfd.2	-	33	5647	c.5605A>G	c.(5605-5607)Aca>Gca	p.T1869A		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1869	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)					TCTATCAATGTATTGAGTAGC	0.413									Kartagener syndrome			
PRDM9	56979	broad.mit.edu	37	5	23522425	23522425	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:23522425A>G	uc003jgo.3	+	6	703	c.521A>G	c.(520-522)aAg>aGg	p.K174R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	174					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTCAGGAAGAAGGAGACTGAA	0.428										HNSCC(3;0.000094)		
PIK3R1	5295	broad.mit.edu	37	5	67591121	67591121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:67591121C>T	uc003jva.3	+	12	2294	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*	PIK3R1_uc003jvc.3_Nonsense_Mutation_p.Q272*|PIK3R1_uc003jvd.3_Nonsense_Mutation_p.Q302*|PIK3R1_uc003jve.3_Nonsense_Mutation_p.Q251*|PIK3R1_uc021xzn.1_Nonsense_Mutation_p.Q209*|PIK3R1_uc011crb.2_Nonsense_Mutation_p.Q242*	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	572					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.L570_D578del(2)|p.L570_Q572del(2)|p.I571I(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGACCTTATCCAGCTGAGAAA	0.373			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
FTMT	94033	broad.mit.edu	37	5	121187841	121187841	+	Silent	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:121187841C>T	uc003kss.3	+	0	192	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	61					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	p.G60W(1)|p.P61S(1)		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)		CTACCGGGCCCGCCGCCGGCC	0.736												
C5orf25	375484	broad.mit.edu	37	5	175717776	175717776	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:175717776C>T	uc003mds.4	+	3	1599	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.P417S			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	398												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		CATGGAAACCCCAGCCAGAAA	0.517												
RNF130	55819	broad.mit.edu	37	5	179467635	179467635	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:179467635A>T	uc003mll.1	-	1	667	c.260T>A	c.(259-261)cTg>cAg	p.L87Q	RNF130_uc003mlm.1_Missense_Mutation_p.L87Q	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	87					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.H86Y(1)		breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCACAGCCCAGATGATCAGC	0.388												
PACRG	135138	broad.mit.edu	37	6	163235309	163235309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr6:163235309G>A	uc003qua.3	+	2	511	c.287G>A	c.(286-288)tGg>tAg	p.W96*	PACRG_uc003qub.3_Nonsense_Mutation_p.W96*|PACRG_uc003quc.3_Nonsense_Mutation_p.W96*	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	96										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AAAATCGCCTGGAAGGTAAGT	0.488												
IL6	3569	broad.mit.edu	37	7	22769182	22769182	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:22769182A>T	uc003svj.4	+	3	490	c.374A>T	c.(373-375)tAc>tTc	p.Y125F	LOC541472_uc010kun.2_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.Y125F|IL6_uc011jyp.1_Missense_Mutation_p.Y49F|IL6_uc011jyq.1_Missense_Mutation_p.Y179F	NM_000600	NP_000591	P05231	IL6_HUMAN	Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	125					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	TTTGAGGTATACCTAGAGTAC	0.443												
NOD1	10392	broad.mit.edu	37	7	30496383	30496383	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:30496383G>A	uc003tav.3	-	3	678	c.155C>T	c.(154-156)gCc>gTc	p.A52V	NOD1_uc010kvs.2_Missense_Mutation_p.A52V|NOD1_uc003tax.2_Non-coding_Transcript|NOD1_uc003tay.2_Non-coding_Transcript|NOD1_uc010kvt.2_Non-coding_Transcript|NOD1_uc010kvu.2_Non-coding_Transcript	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	52	CARD.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CGCATCTTCGGCCGAGAAGTA	0.552												
ABCA13	154664	broad.mit.edu	37	7	48318026	48318026	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:48318026C>G	uc003toq.2	+	17	7259	c.7235C>G	c.(7234-7236)gCt>gGt	p.A2412G	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2412					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTGGGTCAGCTCTTCACCTT	0.383												
RABGEF1	27342	broad.mit.edu	37	7	66240358	66240358	+	Silent	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:66240358T>C	uc003tvf.3	+	5					RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Silent_p.S108S|RABGEF1_uc010lag.3_Silent_p.S108S|RABGEF1_uc011kee.2_Silent_p.S122S|RABGEF1_uc003tvi.3_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TCAGTGCATCTTCCAGGGTCG	0.463												
SEMA3C	10512	broad.mit.edu	37	7	80430136	80430136	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:80430136A>T	uc011kgw.2	-	9	1056	c.977T>A	c.(976-978)gTg>gAg	p.V326E	SEMA3C_uc003uhj.3_Missense_Mutation_p.V308E|SEMA3C_uc011kgx.1_Missense_Mutation_p.V160E	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	308	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCAGAAACACATCCTCTAT	0.279												
CACNA2D1	781	broad.mit.edu	37	7	81591256	81591256	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:81591256C>T	uc003uhr.1	-	35	3176	c.2920G>A	c.(2920-2922)Gac>Aac	p.D974N	CACNA2D1_uc011kgy.1_Missense_Mutation_p.D186N	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	986						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GATTTACTGTCGTTATCGAAG	0.418												
TES	26136	broad.mit.edu	37	7	115889244	115889244	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:115889244C>T	uc003vho.3	+	2	499	c.284C>T	c.(283-285)aCg>aTg	p.T95M	TES_uc011kmx.2_Missense_Mutation_p.T95M|TES_uc011kmy.2_Intron|TES_uc010lka.2_Missense_Mutation_p.T86M|TES_uc003vhp.3_Missense_Mutation_p.T86M|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	95	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	p.T95M(3)		endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATGATATTGACGAATCCAGTT	0.393												
WDYHV1	55093	broad.mit.edu	37	8	124440173	124440173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr8:124440173delT	uc003yqn.1	+	1	218	c.93delT	c.(91-93)aatfs	p.N31fs	WDYHV1_uc011lij.1_5'UTR	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.	31					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						GTGAAGAAAATATTTGGAAGC	0.294												
SLC6A14	11254	broad.mit.edu	37	X	115573956	115573956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chrX:115573956G>T	uc004eqi.3	+	3	579	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	SLC6A14_uc011mtm.2_Splice_Site	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	150					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTTTCAAAGTGAACTACCATG	0.323												
WASH6P	653440	broad.mit.edu	37	X	155254735	155254735	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chrX:155254735C>G	uc022cip.1	+	5	835	c.631C>G	c.(631-633)Ctc>Gtc	p.L211V						RecName: Full=WAS protein family homolog 6; AltName: Full=Protein FAM39A;									p.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587												
