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
CSMD2	114784	broad.mit.edu	37	1	34070881	34070881	+	Splice_Site	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:34070881C>T	uc001bxm.1	-	42	6709	c.6532_splice	c.e42+1	p.V2178_splice	CSMD2_uc001bxn.1_Splice_Site_p.V2180_splice|CSMD2_uc001bxo.1_Splice_Site_p.V1051_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2180	Sushi 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCGACATACCTTCACACTT	0.587												
CLSPN	63967	broad.mit.edu	37	1	36228771	36228775	+	Frame_Shift_Del	DEL	TTTAC	TTTAC	-			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:36228771_36228775delTTTAC	uc001bzi.3	-	3	810_814	c.730_734delGTAAA	c.(730-735)gtaaaafs	p.V244fs	CLSPN_uc009vux.3_Frame_Shift_Del_p.V244fs	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	244					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTGTGCTTTTTTACTTTGTTTTTT	0.322												
LRRC8B	23507	broad.mit.edu	37	1	90050043	90050043	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:90050043G>A	uc001dni.3	+	6	2341	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	LRRC8B_uc001dnh.3_Missense_Mutation_p.E612K|LRRC8B_uc001dnj.3_Missense_Mutation_p.E612K	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	612						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TAATTTGCATGAGTTAGACCT	0.388												
EPS8L3	79574	broad.mit.edu	37	1	110304367	110304367	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:110304367G>A	uc001dyr.2	-	1	230	c.5C>T	c.(4-6)tCa>tTa	p.S2L	EPS8L3_uc001dys.2_Missense_Mutation_p.S2L|EPS8L3_uc001dyq.2_Missense_Mutation_p.S2L|EPS8L3_uc009wfm.2_Intron|EPS8L3_uc009wfn.2_5'UTR|EPS8L3_uc009wfo.2_Missense_Mutation_p.S2L	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	2						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCTGGGCCTTGACATGTTGAC	0.612												
VTCN1	79679	broad.mit.edu	37	1	117699295	117699295	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:117699295G>A	uc001ehb.3	-	2	451	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	VTCN1_uc021osn.1_Missense_Mutation_p.R21W|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Missense_Mutation_p.R21W|VTCN1_uc009whf.2_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	116	Ig-like V-type 1.					integral to membrane|plasma membrane		p.R116W(2)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TTTTTCAGCCGCAAAGAGGCA	0.458												
ITGA10	8515	broad.mit.edu	37	1	145528649	145528649	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:145528649T>C	uc001eoa.3	+	4	522	c.446T>C	c.(445-447)tTc>tCc	p.F149S	ITGA10_uc001enz.1_3'UTR|ITGA10_uc010oyv.2_Intron|ITGA10_uc009wiw.3_Intron|ITGA10_uc010oyw.2_Missense_Mutation_p.F94S	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	149					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGCTTCATTCCAGCCTCAG	0.572												
DPT	1805	broad.mit.edu	37	1	168670256	168670256	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:168670256T>A	uc001gfp.3	-	3	569	c.539_splice	c.e3+1	p.R180_splice		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	180	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CTTTCTCACCTTTCCACTGCA	0.433												
HHAT	55733	broad.mit.edu	37	1	210637955	210637955	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:210637955C>T	uc010psr.2	+	6	1071	c.966C>T	c.(964-966)ctC>ctT	p.L322L	HHAT_uc009xcx.3_Silent_p.L321L|HHAT_uc010psq.2_Silent_p.L184L|HHAT_uc009xcy.3_Silent_p.L256L|HHAT_uc010pss.2_Silent_p.L276L|HHAT_uc010pst.2_Silent_p.L258L|HHAT_uc001hhz.4_Silent_p.L321L|HHAT_uc021pip.1_Silent_p.L321L|HHAT_uc010psu.2_Silent_p.L256L|HHAT_uc001hia.4_Silent_p.L11L	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	321					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CACCCGCCCTCCCCCGCTGCG	0.592												
CENPF	1063	broad.mit.edu	37	1	214819979	214819979	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:214819979G>A	uc001hkm.3	+	12	7240	c.7066G>A	c.(7066-7068)Gct>Act	p.A2356T		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2452	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGCATGCAGCTCTTGAGGC	0.438												
TTC13	79573	broad.mit.edu	37	1	231059600	231059600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:231059600delT	uc001huf.4	-	14	1843	c.1801delA	c.(1801-1803)attfs	p.I601fs	TTC13_uc001hug.4_Frame_Shift_Del_p.I548fs|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Frame_Shift_Del_p.I491fs	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	601							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATTAAATTAATGTGGTTGTTA	0.438												
ANKRD30A	91074	broad.mit.edu	37	10	37508365	37508365	+	Missense_Mutation	SNP	C	C	T	rs116869285	by1000genomes	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:37508365C>T	uc021ppc.1	+	33	3656	c.3557C>T	c.(3556-3558)aCg>aTg	p.T1186M	ANKRD30A_uc001iza.1_Missense_Mutation_p.T1186M	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1242						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTGAGTAGTACGATATATAAC	0.363												
CHAT	1103	broad.mit.edu	37	10	50873009	50873009	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:50873009T>C	uc001jhz.2	+	14	2317	c.2164T>C	c.(2164-2166)Tgc>Cgc	p.C722R	CHAT_uc001jhv.1_Missense_Mutation_p.C604R|CHAT_uc001jhx.1_Missense_Mutation_p.C604R|CHAT_uc001jhy.1_Missense_Mutation_p.C604R|CHAT_uc001jia.2_Missense_Mutation_p.C640R|CHAT_uc010qgs.1_Intron	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	722					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GAGAGACCTCTGCAGTCTGCT	0.502												
DLG5	9231	broad.mit.edu	37	10	79577582	79577582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:79577582delA	uc001jzk.3	-	17	3807	c.3737delT	c.(3736-3738)atgfs	p.M1246fs	DLG5_uc001jzi.3_Frame_Shift_Del_p.M1fs|DLG5_uc001jzj.3_Frame_Shift_Del_p.M661fs|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Frame_Shift_Del_p.M850fs	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1246					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGTGGCTCTCATCTCGGAGTA	0.597												
PTEN	5728	broad.mit.edu	37	10	89653838	89653838	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:89653838T>C	uc001kfb.3	+	1	1168	c.136T>C	c.(136-138)Tac>Cac	p.Y46H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	46	Phosphatase tensin-type.				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.?(8)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V45V(2)|p.V45fs*10(1)|p.Y46C(1)|p.Y46*(1)|p.G44fs*8(1)|p.Y46H(1)|p.G44fs*11(1)|p.V45fs*9(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)		TGAAGGCGTATACAGGAACAA	0.294		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)		
OR4X2	119764	broad.mit.edu	37	11	48266856	48266856	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr11:48266856C>T	uc001ngs.1	+	0	201	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTACTCCTCCGCTACAGCCC	0.502												
CTSW	1521	broad.mit.edu	37	11	65647754	65647754	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr11:65647754G>A	uc001ogc.1	+	1	211	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_001335	NP_001326	P56202	CATW_HUMAN	Homo sapiens cathepsin W (CTSW), mRNA.	57					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCTGAGCccagaaggtatcac	0.517												
ATN1	1822	broad.mit.edu	37	12	7046515	7046516	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:7046515_7046516insC	uc001qrw.1	+	4	2322_2323	c.2085_2086insC	c.(2083-2088)gggcccfs	p.G695fs	ATN1_uc001qrx.1_Frame_Shift_Ins_p.G695fs	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	695					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGGACCTGGGCCCCTGCCACC	0.723												
OR6C70	390327	broad.mit.edu	37	12	55863703	55863703	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:55863703C>A	uc010spn.2	-	0	220	c.220G>T	c.(220-222)Gct>Tct	p.A74S		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGAATGCAAGCAGTTGTGAAT	0.398												
IFNG	3458	broad.mit.edu	37	12	68551725	68551725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:68551725G>A	uc001stw.1	-	2	460	c.334C>T	c.(334-336)Cga>Tga	p.R112*		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	112					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	AAGTCATCTCGTTTCTTTTTG	0.358												
PXN	5829	broad.mit.edu	37	12	120651689	120651689	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:120651689A>C	uc001txv.3	-	9	1649	c.1507T>G	c.(1507-1509)Tca>Gca	p.S503A	PXN_uc001txu.3_Missense_Mutation_p.S301A|PXN_uc001txx.3_Missense_Mutation_p.S322A|PXN_uc001txt.3_Missense_Mutation_p.S489A|PXN_uc001txy.3_Missense_Mutation_p.S455A|PXN_uc001txz.3_Non-coding_Transcript	NM_001243756	NP_001230685	P49023	PAXI_HUMAN	Homo sapiens paxillin (PXN), transcript variant 3, mRNA.	489	LIM zinc-binding 3.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	p.S502Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGAGGGCTGAGATATAGTTC	0.617												
N4BP2L2	10443	broad.mit.edu	37	13	33017656	33017656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr13:33017656G>A	uc010abe.1	-	6	1040	c.1018C>T	c.(1018-1020)Caa>Taa	p.Q340*	N4BP2L2_uc001uug.2_Nonsense_Mutation_p.Q223*|N4BP2L2_uc010abd.1_Nonsense_Mutation_p.Q253*|N4BP2L2_uc001uuh.2_Nonsense_Mutation_p.Q171*|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Nonsense_Mutation_p.Q325*|N4BP2L2_uc021rhy.1_5'Flank	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATTCCATGTTGATGGCACAGA	0.353												
COL4A1	1282	broad.mit.edu	37	13	110817226	110817226	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr13:110817226C>T	uc001vqw.4	-	45	4255	c.4133G>A	c.(4132-4134)gGc>gAc	p.G1378D		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1378	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCTTTCGGGCCTGGCAGTCC	0.642												
ANKDD1A	348094	broad.mit.edu	37	15	65209682	65209682	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr15:65209682C>T	uc002aoa.3	+	2	265	c.236C>T	c.(235-237)gCg>gTg	p.A79V	ANKDD1A_uc002anx.1_Missense_Mutation_p.A79V|ANKDD1A_uc002any.3_5'UTR|ANKDD1A_uc002anz.3_Intron|ANKDD1A_uc002aob.3_Missense_Mutation_p.A49V	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	79					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GAGGAGGATGCGGTAGGGGCC	0.642												
MAN2A2	4122	broad.mit.edu	37	15	91454400	91454400	+	Splice_Site	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr15:91454400G>A	uc010bnz.2	+	13	1991	c.1876_splice	c.e13-1	p.D626_splice	MAN2A2_uc010boa.3_Splice_Site_p.D668_splice|MAN2A2_uc002bqc.3_Splice_Site_p.D626_splice|MAN2A2_uc010uql.2_Splice_Site_p.D288_splice|MAN2A2_uc010uqm.2_Splice_Site_p.D205_splice|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	626					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTGAATTCCAGGATGACACTC	0.612												
CLDN9	9080	broad.mit.edu	37	16	3063836	3063836	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:3063836G>A	uc010uwo.1	+	0	1380	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	158					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GCCCTCAAGCGGGAGCTGGGG	0.701												
FAM86A	196483	broad.mit.edu	37	16	5135684	5135684	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:5135684C>T	uc002cyo.2	-	7	991	c.942G>A	c.(940-942)ctG>ctA	p.L314L	ALG1_uc002cyj.3_3'UTR|ALG1_uc002cym.3_3'UTR|ALG1_uc010bue.3_3'UTR|FAM86A_uc002cyp.2_Silent_p.L280L	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	314										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CGTAGGGAAACAGTTTCTGCT	0.527												
FA2H	79152	broad.mit.edu	37	16	74748141	74748141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:74748141delC	uc002fde.2	-	6	1142	c.1066delG	c.(1066-1068)gatfs	p.D356fs	FA2H_uc002fdd.2_Frame_Shift_Del_p.D129fs|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	356				D -> G (in Ref. 1; BAB71632).	cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AAACAGTAATCCCACAATTTA	0.582												
AIPL1	23746	broad.mit.edu	37	17	6338338	6338338	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:6338338G>A	uc002gcp.3	-	0	182	c.87C>T	c.(85-87)acC>acT	p.T29T	AIPL1_uc021toq.1_5'UTR|AIPL1_uc002gcq.3_Silent_p.T29T|AIPL1_uc002gcr.3_Silent_p.T29T|AIPL1_uc010clk.3_Silent_p.T29T|AIPL1_uc010cll.3_Silent_p.T29T|AIPL1_uc021tor.1_Silent_p.T29T|AIPL1_uc002gcs.3_Silent_p.T29T	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	29					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CTCGGGATCCGGTGATGAAGT	0.597												
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|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.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)		
KCNJ18	3768	broad.mit.edu	37	17	21319710	21319710	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:21319710C>T	uc021tss.1	+	2	1426	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P	KCNJ18_uc002gyv.1_Silent_p.P352P|KCNJ18_uc021tst.1_Silent_p.P352P	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	352						integral to membrane	inward rectifier potassium channel activity										ATGAGGTGCCCTCTACGCCCC	0.567												
C18orf26	284254	broad.mit.edu	37	18	52265157	52265157	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr18:52265157C>A	uc002lfq.1	+	2	460	c.414C>A	c.(412-414)aaC>aaA	p.N138K		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	138						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TGGTGAATAACAAAGGATCGG	0.453												
SERPINB12	89777	broad.mit.edu	37	18	61223463	61223463	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr18:61223463G>A	uc010xeo.2	+	0	71	c.71G>A	c.(70-72)cGt>cAt	p.R24H	SERPINB12_uc010xen.2_Missense_Mutation_p.R24H	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	24					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAAGATGATCGTCATAAAAAC	0.393												
ADAMTS10	81794	broad.mit.edu	37	19	8661023	8661023	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:8661023A>G	uc002mkj.1	-	10	1545	c.1271T>C	c.(1270-1272)aTt>aCt	p.I424T	ADAMTS10_uc002mkk.1_Missense_Mutation_p.I56T	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	424	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTTCATGGTAATGTGGGCAGC	0.592												
ADAMTS10	81794	broad.mit.edu	37	19	8661031	8661031	+	Silent	SNP	A	A	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:8661031A>G	uc002mkj.1	-	10	1537	c.1263T>C	c.(1261-1263)gcT>gcC	p.A421A	ADAMTS10_uc002mkk.1_Silent_p.A53A	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	421	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TAATGTGGGCAGCCATGAGCT	0.592												
KLF1	10661	broad.mit.edu	37	19	12996209	12996209	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:12996209G>A	uc002mvo.3	-	1	898	c.835C>T	c.(835-837)Cac>Tac	p.H279Y		NM_006563	NP_006554	Q13351	KLF1_HUMAN	Homo sapiens Kruppel-like factor 1 (erythroid) (KLF1), mRNA.	279					erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCACGTGTGCGCTGCCTGC	0.692												
ZNF208	7757	broad.mit.edu	37	19	22155610	22155610	+	Silent	SNP	A	A	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:22155610A>G	uc021urr.1	-	3	2375	c.2226T>C	c.(2224-2226)atT>atC	p.I742I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCCAGTATGAATTACCTTAT	0.363												
RAB4B	53916	broad.mit.edu	37	19	41289974	41289974	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:41289974G>A	uc002opd.2	+	4	581	c.424G>A	c.(424-426)Gag>Aag	p.E142K	RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Intron|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Missense_Mutation_p.E168K	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	142					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTTTGCCCAGGAGAATGGTGA	0.627												
SIGLEC9	27180	broad.mit.edu	37	19	51629378	51629378	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:51629378C>T	uc010yct.2	+	2	836	c.741C>T	c.(739-741)gaC>gaT	p.D247D	SIGLEC9_uc002pvu.3_Silent_p.D247D	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	247	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCCAAGGAGACGGCACAGGTA	0.597												
CD33	945	broad.mit.edu	37	19	51728757	51728757	+	Silent	SNP	C	C	T	rs141721735		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:51728757C>T	uc002pwa.2	+	1	361	c.321C>T	c.(319-321)gaC>gaT	p.D107D	CD33_uc010eos.1_Silent_p.D107D|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	107	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCATCGTAGACGCCAGGAGGA	0.507												
ZNF841	284371	broad.mit.edu	37	19	52568811	52568811	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:52568811C>T	uc010ydh.1	-	6	2784	c.2324G>A	c.(2323-2325)cGt>cAt	p.R775H	ZNF841_uc002pyl.1_Missense_Mutation_p.R659H	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R775C(1)		breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGAGCGATAACGGAAGACCTT	0.438												
C2orf65	130951	broad.mit.edu	37	2	74787316	74787316	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr2:74787316G>A	uc002smy.3	-	8	1501	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	C2orf65_uc010ysa.2_Missense_Mutation_p.R462W|C2orf65_uc010ffp.3_Missense_Mutation_p.R111W	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	462					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						GGGTGGAGCCGCCCCTGAGGC	0.607												
AMMECR1L	83607	broad.mit.edu	37	2	128631554	128631554	+	Silent	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr2:128631554C>A	uc002tpl.3	-	2	506	c.255G>T	c.(253-255)gcG>gcT	p.A85A	AMMECR1L_uc002tpm.3_Silent_p.A85A	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	85										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GAGGGCTCAGCGCTCCCGATG	0.547												
LPIN3	64900	broad.mit.edu	37	20	39977494	39977494	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:39977494C>T	uc010ggh.3	+	3	615	c.524C>T	c.(523-525)tCc>tTc	p.S175F	LPIN3_uc002xjx.3_Missense_Mutation_p.S175F|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	175					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AGTGAGCTATCCCTGCCGGAA	0.567												
SEMG2	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:43837052C>T	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.R372C|SEMG2_uc002xnj.2_Missense_Mutation_p.R312C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418												
ARFGEF2	10564	broad.mit.edu	37	20	47605879	47605879	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:47605879C>A	uc002xtx.4	+	18	2743	c.2591C>A	c.(2590-2592)gCt>gAt	p.A864D	ARFGEF2_uc010zyf.2_Missense_Mutation_p.A157D	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	864					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GAGCAAATGGCTAAAACAGCC	0.507												
ZNFX1	57169	broad.mit.edu	37	20	47865786	47865786	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:47865786T>G	uc002xui.3	-	13	4022	c.3775A>C	c.(3775-3777)Atg>Ctg	p.M1259L		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1259			M -> I (in dbSNP:rs6512577).				metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCCGGAGCATGGGGCCTATT	0.527												
MX2	4600	broad.mit.edu	37	21	42771150	42771150	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr21:42771150G>A	uc002yzf.1	+	9	1404	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	MX2_uc002yzg.1_Missense_Mutation_p.E157K|MX2_uc010gop.1_Intron	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	434					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCAGGACATCGAAAAGTTAGT	0.373												
KRTAP10-8	386681	broad.mit.edu	37	21	46032419	46032419	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr21:46032419C>T	uc002zfo.1	+	0	424	c.402C>T	c.(400-402)tgC>tgT	p.C134C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	134	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CCGTGTGCTGCGTGTCCATCT	0.627												
PI4KA	5297	broad.mit.edu	37	22	21174060	21174060	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr22:21174060G>C	uc002zsz.4	-	5	745	c.484C>G	c.(484-486)Ctg>Gtg	p.L162V	PI4KA_uc010gsq.2_Missense_Mutation_p.L248V	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	162					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGCTCTTCCAGGACACGGAGG	0.522												
FAM86DP	692099	broad.mit.edu	37	3	75482023	75482023	+	Splice_Site	SNP	T	T	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr3:75482023T>C	uc003dpp.4	-	2	199	c.-160_splice	c.e2-1		FAM86DP_uc003dps.4_Splice_Site|FAM86DP_uc003dpq.4_Splice_Site|FAM86DP_uc003dpr.4_Splice_Site					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.																		TTCTAAGCTCTGTGTGGACGG	0.488												
FRAS1	80144	broad.mit.edu	37	4	79385647	79385647	+	Silent	SNP	C	C	T	rs150936204	by1000genomes	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:79385647C>T	uc003hlb.2	+	48	7379	c.6939C>T	c.(6937-6939)ccC>ccT	p.P2313P		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2312					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTCGCTGCCCGTCGTACAGA	0.537												
POU4F2	5458	broad.mit.edu	37	4	147561389	147561389	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:147561389C>T	uc003ikv.3	+	1	907	c.659C>T	c.(658-660)cCg>cTg	p.P220L		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	220					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCTCACGCGCCGCACATGGCC	0.726												
NR3C2	4306	broad.mit.edu	37	4	149357273	149357273	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:149357273C>T	uc003ilj.4	-	1	1103	c.740G>A	c.(739-741)aGg>aAg	p.R247K	NR3C2_uc003ilk.4_Missense_Mutation_p.R247K|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	247	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.S246C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GCTGTGCGACCTGGAGCCTCG	0.532												
FHDC1	85462	broad.mit.edu	37	4	153881733	153881733	+	Missense_Mutation	SNP	C	C	T	rs149221149		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:153881733C>T	uc003inf.2	+	3	755	c.680C>T	c.(679-681)gCg>gTg	p.A227V		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	227	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGTTAAAAGCGTTTAGTGGC	0.363												
PLEKHG4B	153478	broad.mit.edu	37	5	143328	143328	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:143328C>T	uc003jak.2	+	1	626	c.576C>T	c.(574-576)gaC>gaT	p.D192D		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	192					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGGTGCTGGACGTCAGTCAGG	0.662												
FTMT	94033	broad.mit.edu	37	5	121187738	121187738	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:121187738C>T	uc003kss.3	+	0	89	c.80C>T	c.(79-81)gCg>gTg	p.A27V		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	27					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGCTGCTTCGCGCTCCCGCTG	0.741												
PCDHAC2	56146	broad.mit.edu	37	5	140175903	140175903	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:140175903G>A	uc003lhd.2	+	0	1460	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A452T|PCDHAC2_uc011czy.2_Missense_Mutation_p.A452T	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	466	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCGTT	0.647												
ADRA1B	147	broad.mit.edu	37	5	159344026	159344026	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:159344026C>T	uc003lxt.1	+	0	287	c.114C>T	c.(112-114)ccC>ccT	p.P38P		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	38					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	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)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CCACACTGCCCCAGCTGGACA	0.587												
RGS14	10636	broad.mit.edu	37	5	176795734	176795734	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:176795734T>C	uc003mgh.3	+	8	1048	c.866T>C	c.(865-867)cTt>cCt	p.L289P	RGS14_uc003mgf.3_Missense_Mutation_p.L289P|RGS14_uc003mgg.1_Missense_Mutation_p.L136P|RGS14_uc003mgi.3_Missense_Mutation_p.L59P	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	289					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGAAGAGCCTTGGGAGCACG	0.582											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZKSCAN4	387032	broad.mit.edu	37	6	28213024	28213024	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr6:28213024A>G	uc003nks.1	-	4	1752	c.1508T>C	c.(1507-1509)aTt>aCt	p.I503T	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.I348T	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	503					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I503I(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTGATGTTCAATAAGACTTCT	0.428												
SYNE1	23345	broad.mit.edu	37	6	152461140	152461140	+	Missense_Mutation	SNP	C	C	T	rs143049227		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr6:152461140C>T	uc021zhb.1	-	137	25626	c.25403G>A	c.(25402-25404)cGt>cAt	p.R8468H	SYNE1_uc003qos.4_Missense_Mutation_p.R2992H|SYNE1_uc003qot.4_Missense_Mutation_p.R8420H|SYNE1_uc003qou.4_Missense_Mutation_p.R8468H|SYNE1_uc011eez.2_Missense_Mutation_p.R670H|SYNE1_uc003qoq.4_Missense_Mutation_p.R670H|SYNE1_uc003qor.4_Missense_Mutation_p.R1391H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8468			R -> H (in a colorectal cancer sample; somatic mutation).		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.R8468H(8)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGTTCCAGACGCTGGAGCTG	0.557										HNSCC(10;0.0054)		
AHR	196	broad.mit.edu	37	7	17367444	17367444	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:17367444C>A	uc011jxz.1	+	3	1035	c.422C>A	c.(421-423)aCt>aAt	p.T141N		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	141	PAS 1.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GCTTCTTCTACTATACAAGAT	0.279												
RAPGEF5	9771	broad.mit.edu	37	7	22165268	22165268	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:22165268G>A	uc003svg.3	-	24	2344	c.2031C>T	c.(2029-2031)atC>atT	p.I677I		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	527					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAGTGTCTGCGATCATATGCT	0.463												
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	rs149840192		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55221822C>A	uc003tqk.3	+	6	1112	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
ZKSCAN1	7586	broad.mit.edu	37	7	99621816	99621816	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:99621816G>A	uc003usk.1	+	2	685	c.466G>A	c.(466-468)Ggg>Agg	p.G156R	ZKSCAN1_uc003usj.3_Missense_Mutation_p.G155R|ZKSCAN1_uc003usl.1_Missense_Mutation_p.G120R|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	156					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCTCGCAAGGGGGATGGTGCC	0.507												
DOCK4	9732	broad.mit.edu	37	7	111395650	111395650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:111395650C>T	uc003vfy.3	-	42	4714	c.4445G>A	c.(4444-4446)tGg>tAg	p.W1482*	DOCK4_uc011kml.2_Nonsense_Mutation_p.W318*|DOCK4_uc011kmm.2_Nonsense_Mutation_p.W344*|DOCK4_uc003vfw.3_Nonsense_Mutation_p.W887*|DOCK4_uc003vfx.3_Nonsense_Mutation_p.W1437*	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1437	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCTCTCCACCCAGAGACTCTA	0.453												
WNT2	7472	broad.mit.edu	37	7	116960624	116960624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:116960624G>A	uc003viz.3	-	1	607	c.307C>T	c.(307-309)Cga>Tga	p.R103*	WNT2_uc003vja.3_Missense_Mutation_p.P28L	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	103					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACTTACTTCGGAGTAGGACC	0.547												
TMEM209	84928	broad.mit.edu	37	7	129813714	129813714	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:129813714G>A	uc003vpn.2	-	11	1533	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	TMEM209_uc010lmc.1_Silent_p.D428D	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	470						integral to membrane		p.G470*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AAGTTTTTCCGTCGGGATACT	0.363												
RAB19	401409	broad.mit.edu	37	7	140107592	140107592	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:140107592C>T	uc010lni.2	+	1	344	c.146C>T	c.(145-147)aCg>aTg	p.T49M	RAB19_uc011krc.1_Missense_Mutation_p.T49M	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA.	49					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CAGCAGAACACGATTGGAGTG	0.468												
DLGAP2	9228	broad.mit.edu	37	8	1496906	1496906	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:1496906G>A	uc003wpl.3	+	1	144	c.47G>A	c.(46-48)gGg>gAg	p.G16E	DLGAP2_uc003wpm.3_Missense_Mutation_p.G16E	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	95					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTGTGTTCCGGGCACACGTGT	0.721												
ADAMDEC1	27299	broad.mit.edu	37	8	24254921	24254921	+	Silent	SNP	C	C	T	rs141288918		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:24254921C>T	uc003xdz.2	+	5	799	c.579C>T	c.(577-579)gaC>gaT	p.D193D	ADAMDEC1_uc010lub.2_Silent_p.D114D|ADAMDEC1_uc011lab.1_Silent_p.D114D	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	193					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGAGCACTGACGGGAAACAAG	0.443												
SDCBP	6386	broad.mit.edu	37	8	59492353	59492353	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:59492353G>A	uc003xtn.3	+	7	900	c.750_splice	c.e7+1	p.K250_splice	SDCBP_uc003xto.3_Splice_Site_p.K249_splice|SDCBP_uc003xtr.3_Splice_Site_p.K249_splice|SDCBP_uc003xtq.3_Splice_Site_p.K250_splice|SDCBP_uc003xtp.3_Splice_Site_p.K244_splice|SDCBP_uc003xts.3_Splice_Site_p.K256_splice|SDCBP_uc011led.2_Splice_Site_p.K191_splice	NM_005625	NP_005616	O00560	SDCB1_HUMAN	Homo sapiens syndecan binding protein (syntenin) (SDCBP), transcript variant 1, mRNA.	250	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTGGATTGAAGGTAAGGAACA	0.398												
DOCK8	81704	broad.mit.edu	37	9	396909	396909	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:396909C>G	uc003zgf.2	+	24	3207	c.3095C>G	c.(3094-3096)gCa>gGa	p.A1032G	DOCK8_uc022bcu.1_Missense_Mutation_p.A964G|DOCK8_uc010mgv.3_Missense_Mutation_p.A932G|DOCK8_uc010mgu.3_Missense_Mutation_p.A334G|DOCK8_uc010mgw.2_Missense_Mutation_p.A334G|DOCK8_uc003zgk.2_Missense_Mutation_p.A490G	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1032					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCGGAAATTGCAGCCCTTTTA	0.348												
DOCK8	81704	broad.mit.edu	37	9	399200	399200	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:399200C>G	uc003zgf.2	+	25	3287	c.3175C>G	c.(3175-3177)Ctt>Gtt	p.L1059V	DOCK8_uc022bcu.1_Missense_Mutation_p.L991V|DOCK8_uc010mgv.3_Missense_Mutation_p.L959V|DOCK8_uc010mgu.3_Missense_Mutation_p.L361V|DOCK8_uc010mgw.2_Missense_Mutation_p.L361V|DOCK8_uc003zgk.2_Missense_Mutation_p.L517V	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1059					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTTGTATGACCTTCTCTCCCT	0.493												
DOCK8	81704	broad.mit.edu	37	9	439373	439373	+	Silent	SNP	G	G	A	rs144172375		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:439373G>A	uc003zgf.2	+	39	5320	c.5208G>A	c.(5206-5208)gcG>gcA	p.A1736A	DOCK8_uc022bcu.1_Silent_p.A1668A|DOCK8_uc010mgv.3_Silent_p.A1636A|DOCK8_uc010mgu.3_Silent_p.A1038A|DOCK8_uc003zgk.2_Silent_p.A1194A	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1736	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGCAGGCCGCGGAGCTCTTCA	0.647												
OR2K2	26248	broad.mit.edu	37	9	114090506	114090506	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:114090506C>T	uc011lwp.2	-	0	208	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TAACAAATATCCATGAAAGAG	0.418												
COL27A1	85301	broad.mit.edu	37	9	117020836	117020836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:117020836C>T	uc011lxl.2	+	27	3157	c.3157C>T	c.(3157-3159)Cga>Tga	p.R1053*	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1053	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.R1053*(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCCAGGATCTCGAGGCCCACC	0.622												
C9orf171	389799	broad.mit.edu	37	9	135374759	135374759	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:135374759C>T	uc004cbn.3	+	4	452	c.404_splice	c.e4-1	p.A135_splice	C9orf171_uc004cbo.3_Splice_Site_p.A99_splice	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	135										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCTCAGCCATCGGACGC	0.647												
ARSF	416	broad.mit.edu	37	X	3021960	3021960	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:3021960G>A	uc022brz.1	+	8	1396	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	ARSF_uc004cre.2_Silent_p.Q420Q|ARSF_uc004crf.2_Silent_p.Q420Q	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	420						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCTCCCTCAGGACAGGTGAT	0.448												
BCOR	54880	broad.mit.edu	37	X	39930272	39930272	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:39930272C>T	uc004den.4	-	5	3484	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	BCOR_uc004dep.4_Silent_p.S1064S|BCOR_uc004deo.4_Silent_p.S1046S|BCOR_uc004dem.4_Silent_p.S1064S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1064					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAGGGTGACCGACTTTGGCT	0.517			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
SLC38A5	92745	broad.mit.edu	37	X	48319395	48319395	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:48319395G>T	uc010nid.3	-	12	1107	c.929C>A	c.(928-930)aCc>aAc	p.T310N	SLC38A5_uc004djk.4_Missense_Mutation_p.T259N	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	310					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GTATCCAAAGGTTGCTGTGAG	0.612												
HUWE1	10075	broad.mit.edu	37	X	53573431	53573431	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:53573431G>A	uc004dsp.3	-	69	11283	c.10881C>T	c.(10879-10881)gcC>gcT	p.A3627A	HUWE1_uc004dsn.3_Silent_p.A2435A|HUWE1_uc004dsq.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3627					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCAGATGGCGGGCTCCATTCA	0.498												
ARMCX2	9823	broad.mit.edu	37	X	100911799	100911799	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:100911799G>A	uc010nnt.2	-	4	1585	c.776C>T	c.(775-777)gCa>gTa	p.A259V	ARMCX2_uc004eid.2_Missense_Mutation_p.A259V|ARMCX2_uc004eie.3_Missense_Mutation_p.A259V|ARMCX2_uc004eif.3_Missense_Mutation_p.A259V|ARMCX2_uc004eig.3_Missense_Mutation_p.A259V|ARMCX2_uc022caq.1_Missense_Mutation_p.A259V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	259	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCCAGGGGTTGCTTTCTTGGC	0.597												
NRK	203447	broad.mit.edu	37	X	105153109	105153109	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:105153109G>A	uc004emd.3	+	12	1779	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q	NRK_uc010npc.1_Silent_p.Q160Q	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	492	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCTTCTGCAGGTACAGTCCC	0.537										HNSCC(51;0.14)		
DCX	1641	broad.mit.edu	37	X	110644367	110644367	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:110644367G>A	uc004epd.3	-	2	971	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	DCX_uc011msv.2_Missense_Mutation_p.R267C|DCX_uc004epe.3_Missense_Mutation_p.R186C|DCX_uc004epf.3_Missense_Mutation_p.R186C|DCX_uc004epg.3_Missense_Mutation_p.R186C	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	267	Doublecortin 2.		R -> C (in SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.R267L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ACCCCACTGCGGATGATGGTA	0.537												
SOWAHD	347454	broad.mit.edu	37	X	118893488	118893488	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:118893488G>A	uc010nql.3	+	0	913	c.858G>A	c.(856-858)tcG>tcA	p.S286S		NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member D (SOWAHD), mRNA.	286																	TGGCAGCGTCGCGGACCAAGG	0.642												
CNGA2	1260	broad.mit.edu	37	X	150912487	150912487	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:150912487T>A	uc004fey.1	+	6	1736	c.1512T>A	c.(1510-1512)gaT>gaA	p.D504E		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	504					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGCTGATGATGGTGTGA	0.512