Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
MUTYH	4595	broad.mit.edu	37	1	45799087	45799087	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:45799087G>A	uc001cnm.2	-	3	553	c.337C>T	c.(337-339)CGG>TGG	p.R113W	MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Missense_Mutation_p.R88W|MUTYH_uc009vxo.2_Missense_Mutation_p.R88W|MUTYH_uc001cng.2_Missense_Mutation_p.R99W|MUTYH_uc001cnj.2_Translation_Start_Site|MUTYH_uc001cni.2_Missense_Mutation_p.R88W|MUTYH_uc001cnh.2_Missense_Mutation_p.R89W|MUTYH_uc001cno.2_Translation_Start_Site|MUTYH_uc001cnk.2_Translation_Start_Site|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.R102W|MUTYH_uc009vxp.2_Missense_Mutation_p.R116W|MUTYH_uc001cnn.2_Missense_Mutation_p.R103W	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	113					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					CTGCCTACCCGTCTTCTCCAT	0.582		NA	Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				8	80					0	0	0	0
SGIP1	84251	broad.mit.edu	37	1	67195004	67195004	+	Silent	SNP	A	A	G			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:67195004A>G	uc001dcr.2	+	20	2017	c.1800A>G	c.(1798-1800)AGA>AGG	p.R600R	SGIP1_uc010opd.1_Silent_p.R200R|SGIP1_uc001dcs.2_Silent_p.R200R|SGIP1_uc001dct.2_Silent_p.R202R|SGIP1_uc009wat.2_Silent_p.R394R|SGIP1_uc001dcu.2_Silent_p.R105R	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	600					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						GCATCACCAGACACTTTGCCA	0.468		NA											7	86					0	0	0	0
NBPF9	400818	broad.mit.edu	37	1	144618124	144618124	+	Silent	SNP	G	G	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:144618124G>T	uc009wig.1	+	6	397	c.321G>T	c.(319-321)ACG>ACT	p.T107T	NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Silent_p.T38T|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Silent_p.T38T|NBPF9_uc010oyg.1_Silent_p.T72T|NBPF9_uc009wii.1_5'UTR	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	107	Potential.					cytoplasm					0						GAGAGCTGACGCAGTTAAAGG	0.493		NA											5	409					1.96e-10	2.52e-10	1	0
NTRK1	4914	broad.mit.edu	37	1	156837972	156837972	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:156837972G>A	uc001fqh.1	+	5	561	c.505G>A	c.(505-507)GGA>AGA	p.G169R	NTRK1_uc001fqf.1_Missense_Mutation_p.G139R|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.G169R|NTRK1_uc009wsk.1_Missense_Mutation_p.G169R	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	169	LRRCT.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGGACTGGGCGGAGTGCCTGA	0.657		NA	T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			7	64					0	0	0	0
GPR25	2848	broad.mit.edu	37	1	200842880	200842880	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:200842880C>T	uc001gvn.1	+	1	715	c.715C>T	c.(715-717)CGG>TGG	p.R239W		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	239	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						GGGTCGGGCCCGGAGGAACTC	0.692		NA											5	58					0	0	0	0
ZNF238	10472	broad.mit.edu	37	1	244218372	244218372	+	Silent	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:244218372C>T	uc001iae.2	+	1	1791	c.1269C>T	c.(1267-1269)TAC>TAT	p.Y423Y	ZNF238_uc001iad.3_Silent_p.Y432Y|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	423	C2H2-type 2.|Interaction with DNMT3A.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CTTGCATGTACACCCTCAAGC	0.627		NA											7	76					0	0	0	0
OR2L13	284521	broad.mit.edu	37	1	248263541	248263541	+	Silent	SNP	C	C	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:248263541C>A	uc001ids.2	+	3	1201	c.864C>A	c.(862-864)ATC>ATA	p.I288I		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATCCCATTATCTACAGCCTGA	0.493		NA											8	59					0.00448238	0.00534438	1	0
ADARB2	105	broad.mit.edu	37	10	1284215	1284215	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr10:1284215G>A	uc009xhq.2	-	5	1714	c.1340C>T	c.(1339-1341)ACG>ATG	p.T447M		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	447	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTCCAGCTGCGTGTAGAGGAA	0.701		NA											4	19					0	0	0	0
TMEM216	51259	broad.mit.edu	37	11	61165278	61165278	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr11:61165278C>T	uc010rlj.1	+	4	534	c.241C>T	c.(241-243)CCG>TCG	p.P81S	TMEM216_uc001nrn.1_Missense_Mutation_p.P27S	NM_016499	NP_057583	Q9P0N5	TM216_HUMAN	transmembrane protein 216	81						integral to membrane					0						GCGAAAGATGCCGCTCAGTAT	0.552		NA											4	124					0	0	0	0
H3F3C	440093	broad.mit.edu	37	12	31944914	31944914	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:31944914G>A	uc001rkr.2	-	1	262	c.187C>T	c.(187-189)CGG>TGG	p.R63W		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	histone H3-like	63					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GGCAGCTTCCGGATGAGCAGC	0.612		NA								HNSCC(67;0.2)			3	85					0	0	0	0
SMARCC2	6601	broad.mit.edu	37	12	56572620	56572620	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:56572620C>T	uc001skb.2	-	13	1259	c.1153G>A	c.(1153-1155)GAT>AAT	p.D385N	SMARCC2_uc001skd.2_Missense_Mutation_p.D385N|SMARCC2_uc001ska.2_Missense_Mutation_p.D385N|SMARCC2_uc001skc.2_Missense_Mutation_p.D385N|SMARCC2_uc010sqf.1_Missense_Mutation_p.D274N	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	385					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGCTTTCATCTTCCTGTTCA	0.483		NA											4	46					0	0	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575490	56575490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:56575490C>A	uc001skb.2	-	9	944	c.838G>T	c.(838-840)GAG>TAG	p.E280*	SMARCC2_uc001skd.2_Nonsense_Mutation_p.E280*|SMARCC2_uc001ska.2_Nonsense_Mutation_p.E280*|SMARCC2_uc001skc.2_Nonsense_Mutation_p.E280*|SMARCC2_uc010sqf.1_Nonsense_Mutation_p.E169*	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	280					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTTGTCACCTCATCTGTCAGT	0.433		NA											9	113					0.00621372	0.00726888	1	0
PIWIL1	9271	broad.mit.edu	37	12	130840124	130840124	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:130840124G>A	uc001uik.2	+	12	1406	c.1316G>A	c.(1315-1317)CGA>CAA	p.R439Q	PIWIL1_uc001uij.1_Missense_Mutation_p.R439Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	439					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGGGAGCTTCGAGACTGGGGT	0.393		NA											15	158					0	0	0	0
MUDENG	55745	broad.mit.edu	37	14	57746958	57746958	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr14:57746958C>T	uc001xcv.2	+	3	1193	c.766C>T	c.(766-768)CTC>TTC	p.L256F	MUDENG_uc010tri.1_Missense_Mutation_p.L10F|MUDENG_uc010trj.1_Missense_Mutation_p.L153F	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	256	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						CAGCTTGAGTCTCCCCACCAA	0.398		NA											10	172					0	0	0	0
EML5	161436	broad.mit.edu	37	14	89130941	89130941	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr14:89130941G>C	uc001xxg.2	-	24	3491	c.3305C>G	c.(3304-3306)TCC>TGC	p.S1102C	EML5_uc001xxf.2_Translation_Start_Site|EML5_uc001xxh.1_Missense_Mutation_p.S241C	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1102	WD 18.					cytoplasm|microtubule				ovary(3)	3						GCTGTCATGGGATGCTACAGC	0.328		NA											4	65					0	0	0	0
HERC2	8924	broad.mit.edu	37	15	28538128	28538128	+	Silent	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr15:28538128C>T	uc001zbj.2	-	4	334	c.228G>A	c.(226-228)CTG>CTA	p.L76L	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	76					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTTGTCATTCAGATCTTCTT	0.393		NA											8	71					0	0	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751578	27751578	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr16:27751578G>A	uc002dow.2	+	15	1984	c.1960G>A	c.(1960-1962)GAG>AAG	p.E654K		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	654										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CGGGGACAAGGAGCTTGGTCT	0.507		NA											6	68					0	0	0	0
KIAA0182	23199	broad.mit.edu	37	16	85699645	85699645	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr16:85699645C>T	uc002fix.2	+	13	2896	c.2822C>T	c.(2821-2823)TCT>TTT	p.S941F	KIAA0182_uc002fiw.2_Missense_Mutation_p.S837F|KIAA0182_uc002fiy.2_Missense_Mutation_p.S868F|KIAA0182_uc002fiz.2_Missense_Mutation_p.S83F|KIAA0182_uc010cho.2_Missense_Mutation_p.S121F	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	941							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						GCTTCCTTGTCTGACATCCCA	0.567		NA											3	44					0	0	0	0
TRPV1	7442	broad.mit.edu	37	17	3470183	3470183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr17:3470183G>A	uc010vrr.1	-	15	2973	c.2446C>T	c.(2446-2448)CGA>TGA	p.R816*	TRPV1_uc010vro.1_Nonsense_Mutation_p.R827*|TRPV1_uc010vrp.1_Nonsense_Mutation_p.R756*|TRPV1_uc010vrq.1_Nonsense_Mutation_p.R814*|TRPV1_uc010vrs.1_Nonsense_Mutation_p.R816*|TRPV1_uc010vrt.1_Nonsense_Mutation_p.R816*|TRPV1_uc010vru.1_Nonsense_Mutation_p.R816*	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	816	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GAAAACTGTCGCAGATAAACT	0.547		NA											5	39					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr17:7577539G>A	uc002gim.2	-	7	936	c.742C>T	c.(742-744)CGG>TGG	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			13	50					0	0	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319866	21319866	+	Silent	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr17:21319866C>T	uc002gyv.1	+	3	1917	c.1212C>T	c.(1210-1212)CTC>CTT	p.L404L		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	404	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	GGGACGGCCTCAGCCCCCAGG	0.662		NA								Prostate(3;0.18)			5	75					0	0	0	0
PSMD3	5709	broad.mit.edu	37	17	38142872	38142872	+	Silent	SNP	A	A	G			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr17:38142872A>G	uc002htn.1	+	3	620	c.456A>G	c.(454-456)GGA>GGG	p.G152G	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.G53G	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	152					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					CCCGCACGGGAAAAGCTGCGT	0.512		NA											3	184					0	0	0	0
SERPINB4	6318	broad.mit.edu	37	18	61309020	61309020	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr18:61309020C>T	uc002ljf.2	-	4	411	c.325G>A	c.(325-327)GGA>AGA	p.G109R	SERPINB4_uc002lje.2_Missense_Mutation_p.G109R|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	109					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						GTCTTTTCTCCGAAGAGCTTG	0.413		NA											11	80					0	0	0	0
ZNF208	7757	broad.mit.edu	37	19	22154658	22154658	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:22154658C>T	uc002nqp.2	-	6	2943	c.2794G>A	c.(2794-2796)GAA>AAA	p.E932K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.463		NA											8	145					0	0	0	0
ZNF675	171392	broad.mit.edu	37	19	23836193	23836193	+	Silent	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:23836193G>A	uc002nri.2	-	4	1724	c.1542C>T	c.(1540-1542)GGC>GGT	p.G514G		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	514	C2H2-type 14.			G -> S (in Ref. 1; AAK95822).	bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAAAAGCTTTGCCACATTCTT	0.368		NA											7	35					0	0	0	0
RINL	126432	broad.mit.edu	37	19	39361610	39361610	+	Silent	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:39361610G>A	uc002ojq.2	-	8	670	c.282C>T	c.(280-282)CAC>CAT	p.H94H	RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Silent_p.H208H	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	94							GTPase activator activity			pancreas(1)	1						AGGAGACCCCGTGAGGCGCAG	0.672		NA											13	96					0	0	0	0
FCGBP	8857	broad.mit.edu	37	19	40368837	40368837	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:40368837C>T	uc002omp.3	-	28	12519	c.12511G>A	c.(12511-12513)GAC>AAC	p.D4171N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4171	VWFD 10.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATCCGCCCGTCGGCCACGGAG	0.617		NA											6	433					0	0	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48607904	48607904	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:48607904C>T	uc002phx.2	-	4	596	c.198G>A	c.(196-198)ATG>ATA	p.M66I	PLA2G4C_uc002phw.2_Missense_Mutation_p.M1I|PLA2G4C_uc010elr.2_Missense_Mutation_p.M66I|PLA2G4C_uc010xzd.1_Missense_Mutation_p.M76I|PLA2G4C_uc002phy.3_Missense_Mutation_p.M66I	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	66	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCTGTTCTTTCATCTCACTCA	0.547		NA											9	95					0	0	0	0
ZNF473	25888	broad.mit.edu	37	19	50548556	50548556	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:50548556C>G	uc002prn.2	+	5	1093	c.856C>G	c.(856-858)CAC>GAC	p.H286D	ZNF473_uc002prm.2_Missense_Mutation_p.H286D|ZNF473_uc010ybo.1_Missense_Mutation_p.H274D	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	286	C2H2-type 2; degenerate.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGAAAACTCACACTGGAGA	0.428		NA											8	94					0	0	0	0
NCK2	8440	broad.mit.edu	37	2	106497876	106497876	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:106497876G>A	uc002tdg.2	+	4	761	c.319G>A	c.(319-321)GAC>AAC	p.D107N	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.D107N	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	107					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						CAGCGGCGCCGACCGCATCTA	0.682		NA											9	56					0	0	0	0
GLI2	2736	broad.mit.edu	37	2	121729595	121729595	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:121729595G>A	uc010flp.2	+	7	1168	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K	GLI2_uc002tmq.1_Missense_Mutation_p.E52K|GLI2_uc002tmr.1_Missense_Mutation_p.E52K|GLI2_uc002tmt.3_Missense_Mutation_p.E52K|GLI2_uc002tmu.3_Missense_Mutation_p.E52K|GLI2_uc010flo.1_Missense_Mutation_p.E255K|GLI2_uc002tmw.1_Missense_Mutation_p.E380K	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	380					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GGTCAAGACCGAGCCTGAGGG	0.647		NA											9	62					0	0	0	0
STAM2	10254	broad.mit.edu	37	2	153000432	153000432	+	Missense_Mutation	SNP	G	G	A	rs137997902		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:153000432G>A	uc002tyc.3	-	7	963	c.613C>T	c.(613-615)CGG>TGG	p.R205W	STAM2_uc010foa.1_Missense_Mutation_p.R205W|STAM2_uc002tyd.2_Missense_Mutation_p.R205W	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	205	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		CTCACTTTCCGTGCAACCTTA	0.333		NA											6	47					0	0	0	0
INPP1	3628	broad.mit.edu	37	2	191235874	191235874	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:191235874G>T	uc002ury.3	+	7	1646	c.946G>T	c.(946-948)GAC>TAC	p.D316Y	INPP1_uc010fsb.2_Missense_Mutation_p.D316Y|INPP1_uc002urx.3_Missense_Mutation_p.D316Y	NM_001128928	NP_001122400	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	316		Magnesium 2 (By similarity).|Substrate (By similarity).			signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	ATTCAAATGGGACTCTTGTGC	0.463		NA											5	94					5.94e-07	7.51e-07	1	0
DNAJB2	3300	broad.mit.edu	37	2	220144591	220144591	+	Silent	SNP	A	A	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:220144591A>T	uc002vkx.1	+	2	273	c.36A>T	c.(34-36)CGA>CGT	p.R12R	DNAJB2_uc010zla.1_Silent_p.R12R|DNAJB2_uc002vkw.1_Silent_p.R12R|DNAJB2_uc002vky.2_5'Flank|DNAJB2_uc010zlb.1_5'Flank	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	12	J.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding				0		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGTGCCGCGAAGTGCGTCCG	0.592		NA											15	60					0	0	0	0
TRPM2	7226	broad.mit.edu	37	21	45837846	45837846	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr21:45837846G>C	uc002zet.1	+	22	3396	c.3183G>C	c.(3181-3183)CAG>CAC	p.Q1061H	TRPM2_uc002zeu.1_Missense_Mutation_p.Q1061H|TRPM2_uc002zew.1_Missense_Mutation_p.Q1061H|TRPM2_uc010gpt.1_Missense_Mutation_p.Q1061H|TRPM2_uc002zex.1_Missense_Mutation_p.Q847H|TRPM2_uc002zey.1_Missense_Mutation_p.Q574H|uc011afe.1_Intron	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1061	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						ACACGGACCAGATTTGGAAGT	0.488		NA											4	66					0	0	0	0
WDR48	57599	broad.mit.edu	37	3	39116272	39116272	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr3:39116272G>C	uc003cit.2	+	8	738	c.728G>C	c.(727-729)AGA>ACA	p.R243T	WDR48_uc011ayt.1_Missense_Mutation_p.R234T|WDR48_uc011ayu.1_Missense_Mutation_p.R161T|WDR48_uc011ayv.1_Missense_Mutation_p.R35T|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	243	WD 5.				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGCCAGCAGAGATGTATAGCA	0.478		NA											14	54					0	0	0	0
EEFSEC	60678	broad.mit.edu	37	3	127983609	127983609	+	Silent	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr3:127983609G>A	uc003eki.2	+	4	809	c.771G>A	c.(769-771)GAG>GAA	p.E257E	EEFSEC_uc003ekj.2_Intron	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	257						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						ACAGTGTGGAGATCCCTGCCC	0.567		NA											7	58					0	0	0	0
AFAP1	60312	broad.mit.edu	37	4	7840316	7840316	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:7840316G>C	uc003gkg.1	-	6	934	c.661C>G	c.(661-663)CAG>GAG	p.Q221E	AFAP1_uc011bwk.1_Missense_Mutation_p.Q221E	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	221	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						GTGCCCTGCTGAGTAATCTTC	0.532		NA											3	77					0	0	0	0
KCTD8	386617	broad.mit.edu	37	4	44450256	44450256	+	Silent	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:44450256C>T	uc003gwu.2	-	1	569	c.285G>A	c.(283-285)GCG>GCA	p.A95A		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	95	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						TGAAGAAGCGCGCCCGGCTGT	0.557		NA								HNSCC(17;0.042)			4	24					0	0	0	0
NAA11	84779	broad.mit.edu	37	4	80246805	80246805	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:80246805G>A	uc003hlt.3	-	1	367	c.227C>T	c.(226-228)GCC>GTC	p.A76V		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	76	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						ACGCTTCACGGCCAGTGAGGT	0.562		NA											10	96					0	0	0	0
FAM13A	10144	broad.mit.edu	37	4	89950619	89950619	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:89950619G>A	uc003hse.1	-	2	417	c.209C>T	c.(208-210)ACG>ATG	p.T70M	FAM13A_uc003hsf.1_Translation_Start_Site|FAM13A_uc003hsh.1_Translation_Start_Site|FAM13A_uc003hsi.2_Missense_Mutation_p.T70M|FAM13A_uc003hsj.2_Missense_Mutation_p.T70M	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	70	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						ACCATGCTGCGTCAAATATTC	0.393		NA											4	152					0	0	0	0
NPY5R	4889	broad.mit.edu	37	4	164272135	164272135	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:164272135G>A	uc003iqn.2	+	4	892	c.710G>A	c.(709-711)AGT>AAT	p.S237N		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	237	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				GTCTGCAGAAGTATAAGCTGT	0.368		NA											19	61					0	0	0	0
VCAN	1462	broad.mit.edu	37	5	82817997	82817997	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr5:82817997C>G	uc003kii.3	+	7	4228	c.3872C>G	c.(3871-3873)ACA>AGA	p.T1291R	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T1291R|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1291	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACACAGCCAACAAGACCACCC	0.478		NA											13	86					0	0	0	0
KDM3B	51780	broad.mit.edu	37	5	137727716	137727716	+	Silent	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr5:137727716C>T	uc003lcy.1	+	8	2595	c.2395C>T	c.(2395-2397)CTG>TTG	p.L799L	KDM3B_uc010jew.1_Silent_p.L455L|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	799					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						AAGGTTCTCACTGGATGAACG	0.512		NA											29	207					0	0	0	0
CDHR2	54825	broad.mit.edu	37	5	176018404	176018404	+	Splice_Site	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr5:176018404G>A	uc003mem.1	+	30	3720	c.3654_splice	c.e30-1	p.R1218_splice	CDHR2_uc003men.1_Splice_Site_p.R1218_splice	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor						homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TTTCTCTCCAGAGCCAACCCC	0.577		NA											11	53					0	0	0	0
C6orf27	80737	broad.mit.edu	37	6	31736952	31736952	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr6:31736952G>C	uc011dog.1	-	10	1584	c.1346C>G	c.(1345-1347)TCA>TGA	p.S449*	C6orf27_uc003nxd.2_Nonsense_Mutation_p.S124*|C6orf27_uc011doh.1_RNA	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	449						extracellular region				ovary(3)	3						CTGAACCCTTGATGTATCTTC	0.522		NA											4	66					0	0	0	0
PTK7	5754	broad.mit.edu	37	6	43113061	43113061	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr6:43113061G>A	uc003oub.1	+	16	2729	c.2531G>A	c.(2530-2532)CGG>CAG	p.R844Q	PTK7_uc003ouc.1_Missense_Mutation_p.R788Q|PTK7_uc003oud.1_Missense_Mutation_p.R804Q|PTK7_uc003oue.1_Missense_Mutation_p.R714Q|PTK7_uc003ouf.1_Intron|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.R852Q|PTK7_uc010jyj.1_Missense_Mutation_p.R170Q	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	844	Cytoplasmic (Potential).|Protein kinase; inactive.|Interaction with CTNNB1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGGACTTCCGGAGGGAGTTG	0.602		NA											13	52					0	0	0	0
TXLNB	167838	broad.mit.edu	37	6	139609822	139609822	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr6:139609822G>C	uc011eds.1	-	2	380	c.215C>G	c.(214-216)TCT>TGT	p.S72C		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	72						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCTGGCAGCAGACCCATAAGT	0.542		NA											14	118					0	0	0	0
AUTS2	26053	broad.mit.edu	37	7	70236612	70236612	+	Silent	SNP	A	A	G			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr7:70236612A>G	uc003tvw.3	+	11	2555	c.1812A>G	c.(1810-1812)CAA>CAG	p.Q604Q	AUTS2_uc003tvx.3_Silent_p.Q604Q|AUTS2_uc011keg.1_Silent_p.Q56Q	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	604										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GTTCACTACAAGGAGCATTTC	0.567		NA											8	99					0	0	0	0
CADPS2	93664	broad.mit.edu	37	7	122194724	122194724	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr7:122194724G>C	uc010lkp.2	-	8	1518	c.1355C>G	c.(1354-1356)TCT>TGT	p.S452C	CADPS2_uc003vkg.3_Missense_Mutation_p.S152C|CADPS2_uc010lkq.2_Missense_Mutation_p.S452C	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	452					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						GGAGCTATTAGAAGTTGGGTA	0.358		NA											4	31					0	0	0	0
PODXL	5420	broad.mit.edu	37	7	131195709	131195709	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr7:131195709G>A	uc003vqw.3	-	2	842	c.584C>T	c.(583-585)ACG>ATG	p.T195M	PODXL_uc003vqx.3_Missense_Mutation_p.T195M	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	195	Thr-rich.|Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					CACAGGATGCGTCGAAGTGGG	0.537		NA											6	81					0	0	0	0
ABP1	26	broad.mit.edu	37	7	150553561	150553561	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr7:150553561G>A	uc003why.1	+	3	4221	c.3G>A	c.(1-3)ATG>ATA	p.M1I	ABP1_uc003whz.1_Missense_Mutation_p.M1I|ABP1_uc003wia.1_Missense_Mutation_p.M1I	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	1					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGCGAGAGATGCCGGCCCTGG	0.607		NA											6	48					0	0	0	0
PTCH1	5727	broad.mit.edu	37	9	98220448	98220448	+	Silent	SNP	C	C	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr9:98220448C>A	uc004avk.3	-	18	3203	c.3015G>T	c.(3013-3015)GGG>GGT	p.G1005G	PTCH1_uc010mro.2_Silent_p.G854G|PTCH1_uc010mrp.2_Silent_p.G854G|PTCH1_uc010mrq.2_Silent_p.G854G|PTCH1_uc004avl.3_Silent_p.G854G|PTCH1_uc010mrr.2_Silent_p.G939G|PTCH1_uc004avm.3_Silent_p.G1004G	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1005	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.I963fs*2(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACTGGACAGCCCCAGGCTCG	0.567		NA							Basal_Cell_Nevus_syndrome				22	68					0.000295444	0.000354532	1	0
MTMR8	55613	broad.mit.edu	37	X	63444272	63444272	+	Silent	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chrX:63444272G>A	uc011mou.1	-	11	2093	c.2025C>T	c.(2023-2025)GCC>GCT	p.A675A	ASB12_uc004dvp.1_Silent_p.A291A|ASB12_uc004dvq.1_Silent_p.A300A|ASB12_uc004dvr.1_Silent_p.A300A	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						GCTGGTTGATGGCTTGTGGCT	0.507		NA											4	36					0	0	0	0
NKAP	79576	broad.mit.edu	37	X	119077227	119077227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chrX:119077227C>T	uc004esh.2	-	1	509	c.342G>A	c.(340-342)TGG>TGA	p.W114*		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein	114					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			ovary(2)	2						GGAGGCTAGGCCAAGGCTTGT	0.637		NA											8	39					0	0	0	0