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
ALDH4A1	8659	broad.mit.edu	37	1	19209865	19209865	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:19209865G>A	uc001bbb.2	-	6	787	c.511C>T	c.(511-513)CGG>TGG	p.R171W	ALDH4A1_uc010ocu.1_Missense_Mutation_p.R111W|ALDH4A1_uc001bbc.2_Missense_Mutation_p.R171W	NM_170726	NP_733844	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4A1 isoform a precursor	171					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	GCATTGAACCGGAAGAAGTCG	0.632		NA											3	64					0	0	0	0
IQCC	55721	broad.mit.edu	37	1	32671827	32671827	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:32671827G>A	uc001bum.2	+	2	162	c.115G>A	c.(115-117)GAG>AAG	p.E39K	IQCC_uc009vua.2_Missense_Mutation_p.E119K|IQCC_uc010ogz.1_5'UTR|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	39										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATTGTACGAGAGGTCGAGGG	0.612		NA											56	140					0	0	0	0
BMP8B	656	broad.mit.edu	37	1	40229411	40229411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:40229411G>T	uc001cdz.1	-	5	1297	c.921C>A	c.(919-921)TAC>TAA	p.Y307*	BMP8B_uc001cea.1_Nonsense_Mutation_p.Y332*|PPIE_uc001cdv.2_Silent_p.T296T|PPIE_uc001cdw.2_3'UTR	NM_001720	NP_001711	P34820	BMP8B_HUMAN	bone morphogenetic protein 8B preproprotein	307					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGAAGCTGACGTAGAGCTCGT	0.562		NA											106	61					4.61e-43	6.03e-43	1	0
ST3GAL3	6487	broad.mit.edu	37	1	44201936	44201937	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:44201936_44201937GG>TT	uc001ckc.2	+	2	180_181	c.3_4GG>TT	c.(1-6)ATGGGA>ATTTGA	p.1_2MG>I*	ST3GAL3_uc009vwu.1_RNA|ST3GAL3_uc010okj.1_RNA|ST3GAL3_uc001cjz.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc001cka.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc001ckb.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc001ckd.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc001cke.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc001ckf.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc001ckg.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc001ckh.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc001cki.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc009vwv.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc009vwy.2_5'UTR|ST3GAL3_uc009vwx.2_RNA|ST3GAL3_uc001ckm.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc001ckl.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc009vwz.2_5'UTR|ST3GAL3_uc001ckn.2_RNA|ST3GAL3_uc001ckp.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc001cko.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc009vxa.2_5'UTR|ST3GAL3_uc001ckq.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc001ckr.2_Nonsense_Mutation_p.1_2MG>I*|ST3GAL3_uc009vxb.2_Nonsense_Mutation_p.1_2MG>I*	NM_006279	NP_006270	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform j	1_2	Cytoplasmic (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				ATGTGAAGATGGGACTCTTGGT	0.381		NA											71	298					0	0	0	0
DMBX1	127343	broad.mit.edu	37	1	46976315	46976315	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:46976315G>A	uc001cpx.2	+	2	352	c.337G>A	c.(337-339)GCC>ACC	p.A113T	DMBX1_uc001cpw.2_Missense_Mutation_p.A108T	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	113	Homeobox.|Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCTGCCTGAGGCCCGGGTGCA	0.602		NA											38	49					0	0	0	0
KTI12	112970	broad.mit.edu	37	1	52499375	52499375	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:52499375T>C	uc001ctj.1	-	1	98	c.59A>G	c.(58-60)GAG>GGG	p.E20G	TXNDC12_uc001cti.2_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated	20							ATP binding			central_nervous_system(2)	2						CACGCGCAACTCTTCAGCACG	0.682		NA											5	23					0	0	0	0
JAK1	3716	broad.mit.edu	37	1	65335021	65335021	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:65335021T>A	uc001dbu.1	-	6	869	c.620A>T	c.(619-621)CAG>CTG	p.Q207L	JAK1_uc009wam.1_Missense_Mutation_p.Q195L	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	207	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TTCTGGCAACTGCATCTTCTT	0.488		NA	Mis		ALL								56	142					0	0	0	0
LPHN2	23266	broad.mit.edu	37	1	82436043	82436043	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:82436043G>A	uc001dit.3	+	15	2909	c.2728G>A	c.(2728-2730)GCA>ACA	p.A910T	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A910T|LPHN2_uc001div.2_Missense_Mutation_p.A910T|LPHN2_uc009wcd.2_Missense_Mutation_p.A910T|LPHN2_uc001diw.2_Missense_Mutation_p.A494T|LPHN2_uc009wce.1_5'UTR	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	923	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTCTTTTTGGCAGCTTTTGC	0.358		NA											75	254					0	0	0	0
OLFM3	118427	broad.mit.edu	37	1	102270397	102270397	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:102270397C>A	uc001duf.2	-	6	905	c.834G>T	c.(832-834)GGG>GGT	p.G278G	OLFM3_uc001dug.2_Silent_p.G258G|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.G183G|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	278	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTGATTCAGCCCCACTGACAA	0.368		NA											26	110					1.26e-06	1.47e-06	1	0
CELSR2	1952	broad.mit.edu	37	1	109811810	109811810	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:109811810A>G	uc001dxa.3	+	20	6771	c.6710A>G	c.(6709-6711)CAC>CGC	p.H2237R		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2237	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGCGACGGCACCCGGAGCTG	0.682		NA											13	53					0	0	0	0
CSDE1	7812	broad.mit.edu	37	1	115272925	115272925	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:115272925G>T	uc001efk.2	-	12	1776	c.1310C>A	c.(1309-1311)ACT>AAT	p.T437N	CSDE1_uc001efi.2_Missense_Mutation_p.T483N|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.T406N|CSDE1_uc001efm.2_Missense_Mutation_p.T452N|CSDE1_uc009wgv.2_Missense_Mutation_p.T437N|CSDE1_uc001efn.2_Missense_Mutation_p.T406N	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	437					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGGAAAAAGTGGCTTCTTT	0.378		NA											15	186					2.32e-09	2.79e-09	1	0
OTUD7B	56957	broad.mit.edu	37	1	149915890	149915890	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:149915890T>A	uc001etn.2	-	12	2754	c.2398A>T	c.(2398-2400)ACC>TCC	p.T800S		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	800	A20-type.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TTGCATTTGGTCTGAGTTGGG	0.557		NA											68	205					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152277524	152277524	+	Missense_Mutation	SNP	C	C	G	rs143421504		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:152277524C>G	uc001ezu.1	-	3	9874	c.9838G>C	c.(9838-9840)GAG>CAG	p.E3280Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3280	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGTCTCTGCGTGACGA	0.602		NA							Ichthyosis				64	581					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152277527	152277527	+	Missense_Mutation	SNP	C	C	T	rs115482787		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:152277527C>T	uc001ezu.1	-	3	9871	c.9835G>A	c.(9835-9837)GCA>ACA	p.A3279T		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3279	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGTCTCTGCGTGACGAGTG	0.602		NA							Ichthyosis				51	573					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152282662	152282662	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:152282662C>A	uc001ezu.1	-	3	4736	c.4700G>T	c.(4699-4701)CGG>CTG	p.R1567L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1567	Ser-rich.|Filaggrin 9.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1567W(1)		ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCCGGCCCGAGTGGAAGG	0.582		NA							Ichthyosis				79	321					1.49e-48	1.96e-48	1	0
SHE	126669	broad.mit.edu	37	1	154459001	154459001	+	Splice_Site	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:154459001A>T	uc001ffb.2	-	4	1268	c.1181_splice	c.e4+1	p.P394_splice	SHE_uc001ffc.2_Splice_Site	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E											breast(3)|ovary(2)|central_nervous_system(1)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGGAGACTCACGGCTGCTTC	0.537		NA											27	112					0	0	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565514	156565514	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:156565514G>C	uc001fpm.2	-	8	658	c.619C>G	c.(619-621)CCC>GCC	p.P207A	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.P202A	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	202	Potential.					intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTTTTTGGGGGGCTTGCTC	0.547		NA											30	148					0	0	0	0
PYHIN1	149628	broad.mit.edu	37	1	158906896	158906896	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:158906896A>G	uc001ftb.2	+	2	441	c.196A>G	c.(196-198)ATA>GTA	p.I66V	PYHIN1_uc001fta.3_Missense_Mutation_p.I66V|PYHIN1_uc001ftc.2_Missense_Mutation_p.I66V|PYHIN1_uc001ftd.2_Missense_Mutation_p.I66V|PYHIN1_uc001fte.2_Missense_Mutation_p.I66V	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	66	DAPIN.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					GGGCAAACTAATAGAATTCTT	0.383		NA											31	92					0	0	0	0
CCDC19	25790	broad.mit.edu	37	1	159850410	159850410	+	Silent	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:159850410T>C	uc001fui.2	-	8	996	c.978A>G	c.(976-978)AAA>AAG	p.K326K	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Silent_p.K241K|CCDC19_uc001ful.2_Silent_p.K241K|CCDC19_uc009wtc.1_Silent_p.K312K	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	326	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCAGTTCTGCTTTCTGTTTCT	0.463		NA											48	162					0	0	0	0
SELP	6403	broad.mit.edu	37	1	169582194	169582194	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:169582194A>T	uc001ggi.3	-	5	813	c.748T>A	c.(748-750)TGG>AGG	p.W250R	SELP_uc001ggh.2_Missense_Mutation_p.W85R|SELP_uc009wvr.2_Missense_Mutation_p.W250R	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	250	Extracellular (Potential).|Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTATTTGTCCAGATTCCAGAA	0.458		NA											32	105					0	0	0	0
XPR1	9213	broad.mit.edu	37	1	180780558	180780558	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:180780558A>T	uc001goi.2	+	7	889	c.697A>T	c.(697-699)ACT>TCT	p.T233S	XPR1_uc009wxm.2_Missense_Mutation_p.T233S|XPR1_uc009wxn.2_Missense_Mutation_p.T233S	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	233	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						ACCAGCATGGACTACTTTTAG	0.328		NA											49	135					0	0	0	0
CFHR5	81494	broad.mit.edu	37	1	196971751	196971751	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:196971751T>A	uc001gts.3	+	8	1415	c.1287T>A	c.(1285-1287)ATT>ATA	p.I429I		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	429	Sushi 7.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						CAAAAGAAATTGTATGTAAAG	0.348		NA											31	72					0	0	0	0
CFHR5	81494	broad.mit.edu	37	1	196973835	196973835	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:196973835G>C	uc001gts.3	+	9	1503	c.1375G>C	c.(1375-1377)GAT>CAT	p.D459H		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	459	Sushi 8.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						TAACAATGGAGATACCACCTC	0.398		NA											56	191					0	0	0	0
CRB1	23418	broad.mit.edu	37	1	197396747	197396747	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:197396747T>A	uc001gtz.2	+	7	2427	c.2292T>A	c.(2290-2292)CGT>CGA	p.R764R	CRB1_uc010poz.1_Silent_p.R695R|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.R652R|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.R245R|CRB1_uc001gub.1_Silent_p.R413R	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	764	Extracellular (Potential).|Laminin G-like 2.		R -> C (in RP12 and LCA8).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						AATATATCCGTGTCTGGCTAG	0.428		NA											21	57					0	0	0	0
NAV1	89796	broad.mit.edu	37	1	201758873	201758873	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:201758873G>A	uc001gwu.2	+	11	3519	c.3172G>A	c.(3172-3174)GGC>AGC	p.G1058S	NAV1_uc001gwv.1_Missense_Mutation_p.G566S|NAV1_uc001gww.1_Missense_Mutation_p.G667S|NAV1_uc001gwx.2_Missense_Mutation_p.G667S|NAV1_uc001gwy.1_Missense_Mutation_p.G439S	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1058					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						TTCAGTTCACGGCTCAGTGCT	0.517		NA											12	148					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237993869	237993869	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:237993869G>A	uc001hyl.1	+	103	14815	c.14695G>A	c.(14695-14697)GAC>AAC	p.D4899N	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4899					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATTACTTCGACACAGTGCC	0.418		NA											56	199					0	0	0	0
PLD5	200150	broad.mit.edu	37	1	242277263	242277263	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:242277263T>A	uc001hzn.1	-	7	1126	c.999A>T	c.(997-999)ATA>ATT	p.I333I	PLD5_uc001hzl.3_Silent_p.I271I|PLD5_uc001hzm.3_Silent_p.I123I|PLD5_uc001hzo.1_Silent_p.I241I			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	333						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGGCATCATCTATCACACTGT	0.433		NA											49	127					0	0	0	0
TFB2M	64216	broad.mit.edu	37	1	246704441	246704441	+	Silent	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:246704441T>C	uc001ibn.2	-	8	1208	c.1083A>G	c.(1081-1083)AAA>AAG	p.K361K		NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	361					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TGTTAACTACTTTCTCATCCT	0.353		NA											8	111					0	0	0	0
CNST	163882	broad.mit.edu	37	1	246823595	246823595	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:246823595G>T	uc001ibp.2	+	10	2309	c.1931G>T	c.(1930-1932)CGA>CTA	p.R644L		NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	644					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						CCATCTAAGCGAAGAGTGAGA	0.438		NA											66	172					1.84e-34	2.4e-34	1	0
ZNF695	57116	broad.mit.edu	37	1	247163376	247163376	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr1:247163376C>T	uc009xgu.2	-	2	149	c.4G>A	c.(4-6)GGA>AGA	p.G2R	ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.G2R|ZNF695_uc001iby.2_RNA|ZNF695_uc001icc.2_Missense_Mutation_p.G2R	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	2					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCCAATAGTCCCTGAAAAAGA	0.453		NA											22	52					0	0	0	0
SVIL	6840	broad.mit.edu	37	10	29822126	29822126	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:29822126C>A	uc001iut.1	-	8	1923	c.1170G>T	c.(1168-1170)GAG>GAT	p.E390D	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.E390D	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	390					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CCCAGCTACACTCAGATGCAT	0.562		NA											32	87					2.2e-25	2.83e-25	1	0
KIAA1274	27143	broad.mit.edu	37	10	72285834	72285834	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:72285834T>A	uc001jrd.3	+	2	408	c.127T>A	c.(127-129)TTG>ATG	p.L43M		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	43										ovary(2)|central_nervous_system(1)	3						GAGCACTAGCTTGCATAACAG	0.602		NA											24	86					0	0	0	0
GRID1	2894	broad.mit.edu	37	10	87482888	87482888	+	Silent	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:87482888A>G	uc001kdl.1	-	12	1970	c.1869T>C	c.(1867-1869)TCT>TCC	p.S623S	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.S194S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	623	Cytoplasmic (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	AGTTCACGGAAGATTCGCCAC	0.597		NA								Multiple Myeloma(13;0.14)			13	50					0	0	0	0
RNLS	55328	broad.mit.edu	37	10	90122454	90122454	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:90122454C>T	uc001kfe.2	-	5	690	c.555G>A	c.(553-555)CTG>CTA	p.L185L	RNLS_uc010qms.1_Silent_p.L102L|RNLS_uc001kfd.2_Silent_p.L185L|RNLS_uc009xtj.2_Silent_p.L17L	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	185						extracellular region	oxidoreductase activity			ovary(1)	1						TCACAGCCTCCAGTTGCTGCC	0.408		NA											18	51					0	0	0	0
ANKRD2	26287	broad.mit.edu	37	10	99343356	99343356	+	Silent	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:99343356G>C	uc001knw.2	+	9	1166	c.957G>C	c.(955-957)CTG>CTC	p.L319L	DHDPSL_uc001knx.2_5'Flank|DHDPSL_uc001kny.2_5'Flank|DHDPSL_uc001knz.2_5'Flank|PI4K2A_uc010qoy.1_5'Flank|ANKRD2_uc009xvu.2_Silent_p.L286L	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 isoform a	319					muscle contraction|muscle organ development		structural constituent of muscle				0		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CGACGGACCTGGTGCAGCTCT	0.622		NA											7	11					0	0	0	0
NT5C2	22978	broad.mit.edu	37	10	104860861	104860861	+	Splice_Site	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:104860861T>C	uc001kwo.2	-	8	668	c.482_splice	c.e8-1	p.E161_splice	NT5C2_uc010qqp.1_Splice_Site_p.E132_splice|NT5C2_uc001kwq.2_Splice_Site_p.E161_splice|NT5C2_uc001kwp.2_Splice_Site	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II						purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GGTAGGTCTCTGAAAAATGAA	0.308		NA											15	52					0	0	0	0
C10orf118	55088	broad.mit.edu	37	10	115895718	115895718	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:115895718T>A	uc001lbb.1	-	9	2096	c.1444A>T	c.(1444-1446)AAG>TAG	p.K482*	C10orf118_uc009xyd.1_Nonsense_Mutation_p.K80*|C10orf118_uc001lbc.1_Nonsense_Mutation_p.K482*|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	482	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCTAGTTCCTTTATTTTGGCA	0.333		NA											45	101					0	0	0	0
ATRNL1	26033	broad.mit.edu	37	10	117226686	117226686	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:117226686G>T	uc001lcg.2	+	23	3806	c.3420G>T	c.(3418-3420)TCG>TCT	p.S1140S	ATRNL1_uc010qsm.1_Silent_p.S269S|ATRNL1_uc010qsn.1_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1140	Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTGGTAGTCGAACAAAAATC	0.274		NA											15	84					6.32e-08	7.46e-08	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118355756	118355756	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr10:118355756C>T	uc001lco.1	+	6	514	c.496C>T	c.(496-498)CAC>TAC	p.H166Y	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.H166Y|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	166					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		TTCCAAAGTTCACCTCATTGG	0.468		NA											94	322					0	0	0	0
USH1C	10083	broad.mit.edu	37	11	17547981	17547981	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:17547981C>A	uc001mnf.2	-	8	696	c.587G>T	c.(586-588)CGA>CTA	p.R196L	USH1C_uc001mne.2_Missense_Mutation_p.R196L|USH1C_uc009yhb.2_Missense_Mutation_p.R196L|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.R160L	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	196					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1						CAGGCTGCCTCGCACGCCCTG	0.597		NA											4	41					0.00024832	0.000275403	1	0
TTC17	55761	broad.mit.edu	37	11	43513568	43513568	+	Splice_Site	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:43513568A>T	uc001mxi.2	+	23	3165	c.3151_splice	c.e23-2	p.D1051_splice	TTC17_uc010rfj.1_Splice_Site_p.D1051_splice|TTC17_uc001mxl.2_Splice_Site_p.D107_splice|TTC17_uc001mxm.2_Splice_Site_p.D32_splice	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17								binding			ovary(5)	5						TTCTTCTCCCAGGATGTGCCC	0.468		NA											113	267					0	0	0	0
OR5D13	390142	broad.mit.edu	37	11	55541467	55541468	+	Missense_Mutation	DNP	TA	TA	CT			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:55541467_55541468TA>CT	uc010ril.1	+	1	554_555	c.554_555TA>CT	c.(553-555)GTA>GCT	p.V185A		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				GACCACTCTGTAATTGTTTCTG	0.386		NA											33	204					0	0	0	0
OR8J1	219477	broad.mit.edu	37	11	56128342	56128342	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:56128342T>C	uc010rjh.1	+	1	620	c.620T>C	c.(619-621)GTG>GCG	p.V207A		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GCAACAAATGTGGTTGGTTCC	0.308		NA											37	118					0	0	0	0
ADRBK1	156	broad.mit.edu	37	11	67047163	67047163	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:67047163C>A	uc009yrn.1	+	5	699	c.433C>A	c.(433-435)CTC>ATC	p.L145I	ADRBK1_uc009yrm.1_Missense_Mutation_p.L145I	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	145	RGS.|N-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCCTCCGGATCTCTTCCAGGT	0.632		NA											26	97					7.93e-12	9.72e-12	1	0
SHANK2	22941	broad.mit.edu	37	11	70331650	70331650	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:70331650G>A	uc001oqc.2	-	21	4826	c.4748C>T	c.(4747-4749)CCG>CTG	p.P1583L	SHANK2_uc010rqn.1_Missense_Mutation_p.P995L|SHANK2_uc001opz.2_Missense_Mutation_p.P988L|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1204					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			cggcgggggcgggggagcggg	0.418		NA											29	160					0	0	0	0
ATM	472	broad.mit.edu	37	11	108160406	108160406	+	Silent	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:108160406T>C	uc001pkb.1	+	29	4699	c.4314T>C	c.(4312-4314)ATT>ATC	p.I1438I	ATM_uc009yxr.1_Silent_p.I1438I|ATM_uc001pkd.3_Silent_p.I90I|ATM_uc001pke.1_Silent_p.I90I|ATM_uc010rvw.1_Silent_p.I90I|ATM_uc001pkf.2_Silent_p.I90I	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1438					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGCACAGAATTCTTAAAATAT	0.318		NA	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			9	102					0	0	0	0
HINFP	25988	broad.mit.edu	37	11	119003216	119003216	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:119003216C>G	uc001pvp.2	+	7	876	c.687C>G	c.(685-687)TTC>TTG	p.F229L	HINFP_uc001pvq.2_Missense_Mutation_p.F229L|HINFP_uc001pvr.2_5'UTR	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	229	C2H2-type 5.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AGCAGCACTTCCAGTGTTCTC	0.592		NA											35	73					0	0	0	0
USP2	9099	broad.mit.edu	37	11	119243870	119243870	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:119243870G>T	uc001pwm.3	-	2	616	c.321C>A	c.(319-321)CTC>CTA	p.L107L	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	107	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGCCCCCGCTGAGGCCACTGC	0.637		NA											32	207					2.08e-15	2.64e-15	1	0
TECTA	7007	broad.mit.edu	37	11	121016545	121016545	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr11:121016545C>A	uc010rzo.1	+	11	3825	c.3825C>A	c.(3823-3825)ACC>ACA	p.T1275T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1275	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAGGGACACCTTCTGCCAGG	0.592		NA											52	158					1.81e-26	2.34e-26	1	0
CACNA1C	775	broad.mit.edu	37	12	2705075	2705075	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:2705075C>T	uc009zdu.1	+	20	3012	c.2699C>T	c.(2698-2700)ACG>ATG	p.T900M	CACNA1C_uc009zdv.1_Missense_Mutation_p.T897M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T900M|CACNA1C_uc001qkc.2_Missense_Mutation_p.T900M|CACNA1C_uc001qke.2_Missense_Mutation_p.T900M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T900M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T900M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T900M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T900M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T900M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T900M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T900M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T900M|CACNA1C_uc001qko.2_Missense_Mutation_p.T900M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T900M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T900M|CACNA1C_uc001qku.2_Missense_Mutation_p.T900M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T900M|CACNA1C_uc001qks.2_Missense_Mutation_p.T900M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T900M|CACNA1C_uc001qka.1_Missense_Mutation_p.T435M|CACNA1C_uc001qki.1_Missense_Mutation_p.T636M|CACNA1C_uc001qkj.1_Missense_Mutation_p.T636M|CACNA1C_uc001qkk.1_Missense_Mutation_p.T636M|CACNA1C_uc001qkm.1_Missense_Mutation_p.T636M|CACNA1C_uc001qkw.2_Missense_Mutation_p.T189M	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	900	III.|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTCAATGACACGATCTTCACC	0.562		NA											21	78					0	0	0	0
FGF23	8074	broad.mit.edu	37	12	4479673	4479673	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:4479673G>A	uc001qmq.1	-	3	738	c.592C>T	c.(592-594)CGG>TGG	p.R198W		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	198					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|breast(1)|skin(1)	4			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGGGTCATCCGGGCCCGGGGC	0.697		NA											12	50					0	0	0	0
TMTC1	83857	broad.mit.edu	37	12	29786262	29786262	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:29786262T>C	uc001rjb.2	-	6	1096	c.622A>G	c.(622-624)ACC>GCC	p.T208A	TMTC1_uc001riz.2_5'UTR|TMTC1_uc001rja.2_Missense_Mutation_p.T52A|TMTC1_uc001rjc.1_Missense_Mutation_p.T270A	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	316	Helical; (Potential).					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TAGGAATAGGTGAGGAATCTA	0.438		NA											8	120					0	0	0	0
YARS2	51067	broad.mit.edu	37	12	32903773	32903773	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:32903773T>A	uc001rli.2	-	3	1049	c.983A>T	c.(982-984)GAG>GTG	p.E328V		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	328					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity				0	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ATGATCAATCTCTGGAAGGGG	0.423		NA											30	122					0	0	0	0
PDZRN4	29951	broad.mit.edu	37	12	41961614	41961614	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:41961614G>A	uc010skn.1	+	9	968	c.900G>A	c.(898-900)AGG>AGA	p.R300R	PDZRN4_uc001rmq.3_Silent_p.R241R|PDZRN4_uc009zjz.2_Silent_p.R239R|PDZRN4_uc001rmr.2_Silent_p.R126R	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	499							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGATGAAAGGAATGAATTCT	0.388		NA											21	78					0	0	0	0
NAV3	89795	broad.mit.edu	37	12	78511822	78511822	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:78511822G>A	uc001syp.2	+	14	2958	c.2785G>A	c.(2785-2787)GAG>AAG	p.E929K	NAV3_uc001syo.2_Missense_Mutation_p.E929K|NAV3_uc010sub.1_Missense_Mutation_p.E429K|NAV3_uc009zsf.2_5'UTR	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	929						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GACAGATTCAGAGAAACGCTC	0.378		NA								HNSCC(70;0.22)			40	186					0	0	0	0
PPFIA2	8499	broad.mit.edu	37	12	81768486	81768486	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:81768486T>A	uc001szo.1	-	11	1354	c.1193A>T	c.(1192-1194)CAG>CTG	p.Q398L	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	324										ovary(3)|lung(2)|pancreas(1)	6						TCTCATGGTCTGCTGCAACTT	0.463		NA											42	109					0	0	0	0
GALNT4	8693	broad.mit.edu	37	12	89918285	89918285	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:89918285C>T	uc001tbd.2	-	1	251	c.42G>A	c.(40-42)CTG>CTA	p.L14L	POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Intron|GALNT4_uc010suo.1_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	14	Helical; Signal-anchor for type II membrane protein; (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0						AAAACGCCAGCAGCAGGCAGC	0.622		NA									OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	80					0	0	0	0
APAF1	317	broad.mit.edu	37	12	99056498	99056498	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:99056498A>G	uc001tfz.2	+	7	1446	c.869A>G	c.(868-870)AAA>AGA	p.K290R	APAF1_uc001tfy.2_Missense_Mutation_p.K279R|APAF1_uc001tga.2_Missense_Mutation_p.K279R|APAF1_uc001tgb.2_Missense_Mutation_p.K290R|APAF1_uc001tgc.2_Missense_Mutation_p.K290R	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	290	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	GGAAAGGAAAAAGGACTTGAA	0.313		NA											20	82					0	0	0	0
SLC5A8	160728	broad.mit.edu	37	12	101576647	101576647	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:101576647C>A	uc001thz.3	-	9	1489	c.1099G>T	c.(1099-1101)GAT>TAT	p.D367Y		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	367	Cytoplasmic (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						TTGATTAGATCTTCCACAGTT	0.343		NA											25	127					1.32e-05	1.51e-05	1	0
DTX1	1840	broad.mit.edu	37	12	113515368	113515368	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:113515368C>T	uc001tuk.1	+	2	735	c.399C>T	c.(397-399)TAC>TAT	p.Y133Y		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	133	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						AGAACGCCTACGAGAAGCAGC	0.567		NA											4	63					0	0	0	0
PDS5B	23047	broad.mit.edu	37	13	33334734	33334734	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr13:33334734G>C	uc010abf.2	+	30	3552	c.3394G>C	c.(3394-3396)GGA>CGA	p.G1132R	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1132					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAATGTTCTAGGAGCTGTTAA	0.383		NA											19	62					0	0	0	0
FAM124A	220108	broad.mit.edu	37	13	51826206	51826206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr13:51826206G>A	uc001vfg.1	+	3	834	c.703G>A	c.(703-705)GAC>AAC	p.D235N	FAM124A_uc001vfe.2_Missense_Mutation_p.D235N|FAM124A_uc001vff.1_Missense_Mutation_p.D271N	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	235										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GGTGCCCACCGACTCCTCCGT	0.602		NA											35	70					0	0	0	0
DZIP1	22873	broad.mit.edu	37	13	96242634	96242634	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr13:96242634C>T	uc001vmk.2	-	17	2594	c.1742G>A	c.(1741-1743)AGA>AAA	p.R581K	DZIP1_uc001vmi.2_5'Flank|DZIP1_uc001vmj.2_Missense_Mutation_p.R57K|DZIP1_uc001vml.2_Missense_Mutation_p.R562K	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	581	Potential.				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTGCTTATGTCTTTCTGATTC	0.368		NA											50	105					0	0	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724597	38724597	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:38724597C>T	uc001wum.1	-	1	978	c.631G>A	c.(631-633)GAG>AAG	p.E211K		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	211	Extracellular (Potential).					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCACTCACCTCGGTCCCAGGT	0.547		NA											76	176					0	0	0	0
FAM179B	23116	broad.mit.edu	37	14	45431656	45431656	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:45431656T>A	uc001wvv.2	+	1	241	c.32T>A	c.(31-33)CTG>CAG	p.L11Q	FAM179B_uc001wvw.2_Missense_Mutation_p.L11Q|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.L11Q|FAM179B_uc001wvu.2_Missense_Mutation_p.L11Q	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	11							binding			skin(2)|upper_aerodigestive_tract(1)	3						CTGCTTCTGCTGCCGCCCTTT	0.612		NA											4	49					0	0	0	0
C14orf106	55320	broad.mit.edu	37	14	45711704	45711704	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:45711704G>C	uc001wwf.2	-	4	1135	c.676C>G	c.(676-678)CAA>GAA	p.Q226E	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	226					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						TCCTGTTCTTGGTTCAGAGTT	0.303		NA											38	108					0	0	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940192	67940192	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:67940192G>T	uc001xjk.2	-	3	859	c.449C>A	c.(448-450)CCC>CAC	p.P150H	TMEM229B_uc001xjj.1_RNA	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	150	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1						GGGCTCCCCGGGCTCAGCGTC	0.657		NA											15	81					2.32e-09	2.79e-09	1	0
ASPG	374569	broad.mit.edu	37	14	104561928	104561928	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:104561928G>A	uc001yoq.1	+	4	424	c.364G>A	c.(364-366)GCT>ACT	p.A122T	ASPG_uc001yoo.1_Missense_Mutation_p.A150T|ASPG_uc001yop.1_Missense_Mutation_p.A122T|ASPG_uc001yor.1_Missense_Mutation_p.A122T	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	122	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						CATGGCCTTTGCTGCCTCGAT	0.637		NA											35	63					0	0	0	0
MTA1	9112	broad.mit.edu	37	14	105932764	105932764	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr14:105932764G>A	uc001yqx.2	+	17	1813	c.1626G>A	c.(1624-1626)GAG>GAA	p.E542E	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Silent_p.E303E	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	542					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TCCCGGCAGAGACCCACCCCC	0.682		NA											5	6					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24922320	24922320	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:24922320C>A	uc001ywo.2	+	1	1780	c.1306C>A	c.(1306-1308)CCC>ACC	p.P436T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	436	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGCTACTGGACCCCTCATCCT	0.542		NA											37	105					6.71e-13	8.3e-13	1	0
GOLGA6C	653641	broad.mit.edu	37	15	75557691	75557691	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:75557691C>T	uc002azs.1	+	9	726	c.649C>T	c.(649-651)CGG>TGG	p.R217W	uc002azt.1_5'Flank	NM_001145224	NP_001138696	A6NDK9	GOG6C_HUMAN	golgi autoantigen, golgin subfamily a, 6D	229	Potential.									ovary(1)	1						CCAGCTAGAGCGGGACGAATA	0.547		NA											67	399					0	0	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79089014	79089014	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:79089014G>T	uc002bej.3	-	4	948	c.737C>A	c.(736-738)ACC>AAC	p.T246N	ADAMTS7_uc010und.1_Missense_Mutation_p.T246N|ADAMTS7_uc002bek.1_Missense_Mutation_p.T246N	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	246	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						TACTACCAGGGTCTCCACCCA	0.403		NA											10	190					2.81e-09	3.36e-09	1	0
IGF1R	3480	broad.mit.edu	37	15	99467897	99467897	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr15:99467897C>T	uc002bul.2	+	13	2816	c.2766C>T	c.(2764-2766)TTC>TTT	p.F922F	IGF1R_uc010bon.2_Silent_p.F922F|IGF1R_uc010boo.1_RNA	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	922	Extracellular (Potential).|Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTGTGTTCTTCTATGTCCAGG	0.547		NA											18	98					0	0	0	0
WDR24	84219	broad.mit.edu	37	16	739435	739435	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:739435C>A	uc002ciz.1	-	1	966	c.206G>T	c.(205-207)CGC>CTC	p.R69L		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	131										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				CGAAGGCTTGCGCCCCACACG	0.602		NA											25	54					5.35e-06	6.18e-06	1	0
PKD1	5310	broad.mit.edu	37	16	2164578	2164578	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:2164578C>A	uc002cos.1	-	11	2655	c.2446G>T	c.(2446-2448)GAC>TAC	p.D816Y	PKD1_uc002cot.1_Missense_Mutation_p.D816Y	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	816	PKD 2.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GAGACCACGTCAAAGCTGCAG	0.682		NA											6	8					0.00198382	0.00215063	1	0
C16orf62	57020	broad.mit.edu	37	16	19612993	19612993	+	Silent	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:19612993C>G	uc002dgn.1	+	9	744	c.732C>G	c.(730-732)CTC>CTG	p.L244L	C16orf62_uc002dgo.1_Silent_p.L244L|C16orf62_uc002dgp.1_5'UTR|C16orf62_uc010vas.1_Silent_p.L118L|C16orf62_uc002dgm.1_Silent_p.L244L	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	244						integral to membrane				ovary(1)	1						CAGGAAAGCTCGTGTACGAGC	0.483		NA									OREG0023661	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	92					0	0	0	0
RBBP6	5930	broad.mit.edu	37	16	24580864	24580864	+	Silent	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:24580864A>T	uc002dmh.2	+	17	3893	c.2853A>T	c.(2851-2853)CCA>CCT	p.P951P	RBBP6_uc010vcb.1_Silent_p.P818P|RBBP6_uc002dmi.2_Silent_p.P917P|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.P784P	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	951					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		TTCTGAACCCAGAGTTATTAG	0.398		NA											13	48					0	0	0	0
ATXN2L	11273	broad.mit.edu	37	16	28840776	28840776	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:28840776G>T	uc002drc.2	+	7	964	c.796G>T	c.(796-798)GTG>TTG	p.V266L	uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.V266L|ATXN2L_uc002drb.2_Missense_Mutation_p.V266L|ATXN2L_uc002dqy.2_Missense_Mutation_p.V266L|ATXN2L_uc002dra.2_Missense_Mutation_p.V266L|ATXN2L_uc002dqz.2_Missense_Mutation_p.V266L|ATXN2L_uc010vdb.1_Missense_Mutation_p.V266L|ATXN2L_uc002dre.2_Missense_Mutation_p.V266L|ATXN2L_uc002drf.2_Intron	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	266						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GAACTACGGTGTGAAGACTAC	0.463		NA											23	79					1.11e-12	1.36e-12	1	0
NOD2	64127	broad.mit.edu	37	16	50763774	50763774	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:50763774G>T	uc002egm.1	+	11	3117	c.3012G>T	c.(3010-3012)CTG>CTT	p.L1004L	NOD2_uc010vgq.1_Silent_p.L49L	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	1004	LRR 8.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				AAGCCCTCCTGCAGGCCCTTG	0.348		NA											12	59					1.05e-09	1.27e-09	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686756	53686756	+	Missense_Mutation	SNP	T	T	A	rs121918198		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:53686756T>A	uc002ehp.2	-	15	1907	c.1843A>T	c.(1843-1845)ACC>TCC	p.T615S	RPGRIP1L_uc002eho.3_Missense_Mutation_p.T615S|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.T615S|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.T615S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.T615S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	615	C2 1.		T -> P (in JBTS7; affects interaction with NPHP4).		negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				GAAGAAAAGGTTACTTTGTTG	0.373		NA											10	116					0	0	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53708989	53708989	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:53708989C>T	uc002ehp.2	-	7	886	c.822G>A	c.(820-822)CAG>CAA	p.Q274Q	RPGRIP1L_uc002eho.3_Silent_p.Q274Q|RPGRIP1L_uc010vgy.1_Silent_p.Q274Q|RPGRIP1L_uc010cbx.2_Silent_p.Q274Q|RPGRIP1L_uc010vgz.1_Silent_p.Q274Q|RPGRIP1L_uc002ehq.1_Silent_p.Q274Q	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	274					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				TCTCTACTAGCTGTTTATGAA	0.323		NA											7	107					0	0	0	0
IRX6	79190	broad.mit.edu	37	16	55362806	55362806	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:55362806C>T	uc002ehy.2	+	5	1449	c.916C>T	c.(916-918)CGC>TGC	p.R306C	IRX6_uc002ehx.2_Missense_Mutation_p.R306C	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	306						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CCGATTGGAGCGCAGGGAGTG	0.642		NA											8	127					0	0	0	0
NUDT21	11051	broad.mit.edu	37	16	56481815	56481815	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:56481815C>G	uc002eja.2	-	2	350	c.203G>C	c.(202-204)AGG>ACG	p.R68T	NUDT21_uc002eiz.2_5'UTR	NM_007006	NP_008937	O43809	CPSF5_HUMAN	cleavage and polyadenylation specific factor 5	68	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity				0						AAATTCTTCCCTCATGCGCTG	0.473		NA											7	122					0	0	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188154	72188154	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:72188154C>A	uc002fcc.3	-	4	542	c.370G>T	c.(370-372)GAC>TAC	p.D124Y	PMFBP1_uc002fcd.2_Missense_Mutation_p.D124Y|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	124										ovary(2)	2		Ovarian(137;0.179)				AGAACCAGGTCGGAAGTCTGC	0.448		NA											84	259					9.36e-61	1.23e-60	1	0
LRRC50	123872	broad.mit.edu	37	16	84188370	84188370	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:84188370A>T	uc002fhl.3	+	4	722	c.541A>T	c.(541-543)AGC>TGC	p.S181C	LRRC50_uc010chi.1_RNA	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	181	LRR 4.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						TCTTAACCTCAGCAACAATTA	0.473		NA							Kartagener_syndrome				35	102					0	0	0	0
COX4NB	10328	broad.mit.edu	37	16	85822627	85822627	+	Silent	SNP	G	G	A	rs146555773		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:85822627G>A	uc002fjd.2	-	2	508	c.261C>T	c.(259-261)TAC>TAT	p.Y87Y	COX4NB_uc010vol.1_Silent_p.Y87Y	NM_006067	NP_006058	O43402	CX4NB_HUMAN	COX4 neighbor isoform 1	87						mitochondrion|nucleus					0						CAGCAATCACGTAGCTATGAT	0.438		NA											11	149					0	0	0	0
CDH15	1013	broad.mit.edu	37	16	89251724	89251724	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr16:89251724G>C	uc002fmt.2	+	5	723	c.646G>C	c.(646-648)GTG>CTG	p.V216L	CDH15_uc010cij.1_Missense_Mutation_p.V216L	NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	216	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CACAGTGCAAGTGGGGCTGGA	0.697		NA											7	15					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:7574018G>A	uc002gim.2	-	10	1203	c.1009C>T	c.(1009-1011)CGC>TGC	p.R337C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205C|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	337	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (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|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.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	0.448		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)			17	12					0	0	0	0
ERAL1	26284	broad.mit.edu	37	17	27185506	27185506	+	Splice_Site	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:27185506T>C	uc002hcy.1	+	6	721	c.711_splice	c.e6+2	p.K237_splice	ERAL1_uc002hcz.1_Splice_Site|ERAL1_uc002hda.1_Splice_Site_p.K44_splice|ERAL1_uc002hdb.1_Splice_Site_p.K120_splice	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Era-like 1						ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			skin(1)	1	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ATGAACAAGGTGAGCACTACC	0.547		NA											62	155					0	0	0	0
SLFN5	162394	broad.mit.edu	37	17	33586236	33586236	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:33586236T>G	uc002hjf.3	+	2	644	c.527T>G	c.(526-528)TTT>TGT	p.F176C	SLFN5_uc002hje.2_Missense_Mutation_p.F176C|SLFN5_uc010wcg.1_Missense_Mutation_p.F176C	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	176					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GCTGCTTTATTTGATAGAAAG	0.398		NA											65	168					0	0	0	0
CDK12	51755	broad.mit.edu	37	17	37673803	37673803	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:37673803T>C	uc010cvv.2	+	10	3543	c.2957T>C	c.(2956-2958)TTC>TCC	p.F986S	CDK12_uc010wef.1_Missense_Mutation_p.F985S|CDK12_uc002hrw.3_Missense_Mutation_p.F986S	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	986	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						CGAGAAGAATTCTCTTTGTGA	0.468		NA								TCGA Ovarian(9;0.13)			10	75					0	0	0	0
GHDC	84514	broad.mit.edu	37	17	40342689	40342689	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:40342689G>A	uc002hzd.2	-	7	1725	c.1241C>T	c.(1240-1242)GCG>GTG	p.A414V	GHDC_uc002hzg.1_Missense_Mutation_p.A414V|GHDC_uc010wgg.1_Missense_Mutation_p.A375V|GHDC_uc002hze.3_Missense_Mutation_p.A414V|GHDC_uc002hzf.3_Missense_Mutation_p.A414V	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	414						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTTGGCCCCCGCCCACTGCCC	0.627		NA											4	56					0	0	0	0
ANKRD40	91369	broad.mit.edu	37	17	48777946	48777946	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:48777946A>G	uc002iso.2	-	2	521	c.266T>C	c.(265-267)ATC>ACC	p.I89T		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	89											0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			AATCTTCCTGATTTCTCTCCT	0.418		NA											46	130					0	0	0	0
MRC2	9902	broad.mit.edu	37	17	60759630	60759630	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:60759630G>T	uc002jad.2	+	20	3240	c.2838G>T	c.(2836-2838)TTG>TTT	p.L946F	MRC2_uc002jae.2_Missense_Mutation_p.L17F|MRC2_uc002jaf.2_5'UTR	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	946	Extracellular (Potential).|C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TGACAGCCTTGCCCTACATCT	0.562		NA											14	12					1.05e-09	1.27e-09	1	0
ABCA10	10349	broad.mit.edu	37	17	67218723	67218723	+	Silent	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:67218723A>G	uc010dfa.1	-	5	1029	c.150T>C	c.(148-150)TTT>TTC	p.F50F	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfc.1_5'UTR	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	50					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					ATCCCCAATTAAACTTCAGGC	0.333		NA											91	106					0	0	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282368	71282368	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:71282368G>A	uc002jjn.2	-	2	419	c.272C>T	c.(271-273)TCG>TTG	p.S91L	CDC42EP4_uc002jjo.2_Missense_Mutation_p.S91L|CDC42EP4_uc002jjp.1_Intron	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	91					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTGGTCACCGACTGTGACCG	0.632		NA											23	57					0	0	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74569350	74569350	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:74569350C>T	uc002jsg.3	-	4	712	c.457G>A	c.(457-459)GTG>ATG	p.V153M		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	sialyltransferase 7B	153	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity				0						TTGCCCACCACGGCACACCGG	0.607		NA											5	26					0	0	0	0
CARD14	79092	broad.mit.edu	37	17	78175565	78175565	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:78175565C>T	uc002jxw.1	+	14	2069	c.1874C>T	c.(1873-1875)CCC>CTC	p.P625L	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.P625L|CARD14_uc010wud.1_Intron	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	625	PDZ.			DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326).	activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCTCAGAGCCCTTGTTCAAG	0.597		NA											4	104					0	0	0	0
TUBB6	84617	broad.mit.edu	37	18	12325643	12325643	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr18:12325643C>A	uc002kqw.2	+	4	900	c.855C>A	c.(853-855)ACC>ACA	p.T285T	TUBB6_uc002kqv.2_Silent_p.T213T|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Silent_p.T248T|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	285					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		GGGCCCTGACCGTGCCCGAGC	0.687		NA											13	38					0.000132079	0.000147162	1	0
DTNA	1837	broad.mit.edu	37	18	32345948	32345948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr18:32345948C>T	uc010dmn.1	+	2	92	c.91C>T	c.(91-93)CGA>TGA	p.R31*	DTNA_uc002kxu.2_Nonsense_Mutation_p.R31*|DTNA_uc010xbx.1_Nonsense_Mutation_p.R31*|DTNA_uc002kxv.3_Nonsense_Mutation_p.R31*|DTNA_uc002kxw.2_Nonsense_Mutation_p.R31*|DTNA_uc002kxx.2_Nonsense_Mutation_p.R31*|DTNA_uc010dmj.2_Nonsense_Mutation_p.R31*|DTNA_uc002kxz.2_Nonsense_Mutation_p.R31*|DTNA_uc002kxy.2_Nonsense_Mutation_p.R31*|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Nonsense_Mutation_p.R31*|DTNA_uc002kyb.3_Nonsense_Mutation_p.R31*|DTNA_uc010dmm.2_Nonsense_Mutation_p.R31*	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	31	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						GGATCGCATCCGACTCTCCAC	0.408		NA											8	77					0	0	0	0
ABCA7	10347	broad.mit.edu	37	19	1042123	1042123	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:1042123G>T	uc002lqw.3	+	5	594	c.363G>T	c.(361-363)ACG>ACT	p.T121T	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.2_Silent_p.T121T	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	121	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACAGGACGCTGGCTGGCC	0.716		NA											4	12					0.000602214	0.000660788	1	0
DIRAS1	148252	broad.mit.edu	37	19	2717400	2717400	+	Silent	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:2717400C>G	uc002lwf.3	-	2	563	c.405G>C	c.(403-405)GCG>GCC	p.A135A		NM_145173	NP_660156	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	135					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCGCCTGCGCCTCGCGCG	0.617		NA											25	76					0	0	0	0
TLE2	7089	broad.mit.edu	37	19	3009612	3009612	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:3009612C>A	uc002lww.2	-	13	1364	c.1101G>T	c.(1099-1101)GTG>GTT	p.V367V	TLE2_uc010xhb.1_Intron|TLE2_uc010dth.2_Silent_p.V368V|TLE2_uc010xhc.1_Silent_p.V245V|TLE2_uc010dti.2_Silent_p.V381V|TLE2_uc010xhd.1_Silent_p.V275V	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	367	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGCTGGGCACGGAGAGGT	0.662		NA											3	23					0.00909568	0.00965747	1	0
GIPC3	126326	broad.mit.edu	37	19	3589862	3589862	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:3589862G>T	uc002lyd.3	+	5	766	c.739G>T	c.(739-741)GTT>TTT	p.V247F		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	247										breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCGGAAGGTTGATGACCT	0.652		NA											35	189					2.95e-19	3.78e-19	1	0
TMIGD2	126259	broad.mit.edu	37	19	4292863	4292863	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:4292863G>A	uc002lzx.1	-	5	628	c.582C>T	c.(580-582)AAC>AAT	p.N194N	TMIGD2_uc010dtv.1_Silent_p.N190N	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	194	Cytoplasmic (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTATAGGACGTTGCTGTAGA	0.552		NA											24	134					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9062982	9062982	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:9062982C>A	uc002mkp.2	-	3	24668	c.24464G>T	c.(24463-24465)AGG>ATG	p.R8155M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8157	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GACTTCTGTCCTGGAGACTTC	0.547		NA											30	140					2.46e-21	3.16e-21	1	0
ZNF440	126070	broad.mit.edu	37	19	11943025	11943025	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:11943025G>A	uc002msp.1	+	4	1190	c.1034G>A	c.(1033-1035)TGT>TAT	p.C345Y		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	345	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGTAAGATATGTGGAAAAGAC	0.363		NA											17	70					0	0	0	0
ZNF536	9745	broad.mit.edu	37	19	30935280	30935280	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:30935280G>C	uc002nsu.1	+	2	949	c.811G>C	c.(811-813)GCG>CCG	p.A271P	ZNF536_uc010edd.1_Missense_Mutation_p.A271P	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GGTGGCCCCGGCGGCGGGCTT	0.672		NA											7	23					0	0	0	0
ZNF30	90075	broad.mit.edu	37	19	35434153	35434153	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:35434153G>C	uc010edp.1	+	5	661	c.283G>C	c.(283-285)GGC>CGC	p.G95R	ZNF30_uc002nxf.2_Missense_Mutation_p.G14R|ZNF30_uc010edq.1_Missense_Mutation_p.G96R|ZNF30_uc010edr.1_Missense_Mutation_p.G96R	NM_194325	NP_919306	P17039	ZNF30_HUMAN	zinc finger protein 30 isoform b	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TGATACAATCGGCTGTAAAGA	0.308		NA											6	20					0	0	0	0
RYR1	6261	broad.mit.edu	37	19	38976768	38976768	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:38976768C>T	uc002oit.2	+	34	5603	c.5473C>T	c.(5473-5475)CAC>TAC	p.H1825Y	RYR1_uc002oiu.2_Missense_Mutation_p.H1825Y	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1825	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGGTGGGCAGCACGCTCGCGA	0.687		NA											63	168					0	0	0	0
ACTN4	81	broad.mit.edu	37	19	39215092	39215092	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:39215092C>T	uc002oja.1	+	16	1956	c.1897C>T	c.(1897-1899)CGG>TGG	p.R633W	ACTN4_uc002ojb.1_5'Flank	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	633	Spectrin 3.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTGCCAAAACGGGACCATGC	0.687		NA											7	33					0	0	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908443	48908443	+	Silent	SNP	A	A	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:48908443A>C	uc002pjc.3	+	3	1006	c.918A>C	c.(916-918)GCA>GCC	p.A306A		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	306	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GGCTGTTTGCAGTGCGCTCGG	0.716		NA											3	13					0	0	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49340739	49340739	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:49340739T>G	uc002pkx.2	-	20	2698	c.2147A>C	c.(2146-2148)CAG>CCG	p.Q716P	HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_3'UTR|PLEKHA4_uc010eml.2_3'UTR	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	716						cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGGGTCTCCTGGCGCGTGGG	0.667		NA											27	80					0	0	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021898	51021898	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:51021898G>T	uc002pss.2	-	3	1209	c.1072C>A	c.(1072-1074)CAT>AAT	p.H358N		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	358	LRRCT.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CAGGTGAAATGCGACTGGTCC	0.667		NA											16	51					2.49e-13	3.08e-13	1	0
PPP1R12C	54776	broad.mit.edu	37	19	55606107	55606107	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:55606107G>A	uc002qix.2	-	12	1530	c.1514C>T	c.(1513-1515)CCG>CTG	p.P505L	PPP1R12C_uc010yfs.1_Missense_Mutation_p.P431L|PPP1R12C_uc002qiy.2_Missense_Mutation_p.P504L	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	505	Pro-rich.					cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TTCAGGCTCCGGAATCCTGGA	0.547		NA											8	11					0	0	0	0
NLRP8	126205	broad.mit.edu	37	19	56466303	56466303	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:56466303T>A	uc002qmh.2	+	3	950	c.879T>A	c.(877-879)TCT>TCA	p.S293S	NLRP8_uc010etg.2_Silent_p.S293S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	293	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCTCACATCTACCCTCATTG	0.507		NA											52	229					0	0	0	0
NLRP5	126206	broad.mit.edu	37	19	56552287	56552287	+	Splice_Site	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:56552287G>T	uc002qmj.2	+	11	2787	c.2787_splice	c.e11-1	p.I929_splice	NLRP5_uc002qmi.2_Splice_Site_p.I910_splice	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5							mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTTCTTGCAGACTGGAGGAC	0.542		NA											14	50					1.5e-05	1.71e-05	1	0
ZNF135	7694	broad.mit.edu	37	19	58579484	58579484	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:58579484C>A	uc010yhq.1	+	5	1764	c.1668C>A	c.(1666-1668)CAC>CAA	p.H556Q	ZNF135_uc002qre.2_Missense_Mutation_p.H544Q|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.H502Q|ZNF135_uc002qrg.2_Missense_Mutation_p.H514Q|ZNF135_uc010yhr.1_Missense_Mutation_p.H365Q	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	556					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGAGGATCCACACAGGAGAGA	0.532		NA											22	79					2.89e-11	3.53e-11	1	0
KCNF1	3754	broad.mit.edu	37	2	11052775	11052775	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:11052775C>T	uc002rax.2	+	1	713	c.223C>T	c.(223-225)CGC>TGC	p.R75C		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	75	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCCGGCAAGCGCGAGTTCTA	0.592		NA											10	47					0	0	0	0
CAD	790	broad.mit.edu	37	2	27465288	27465288	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:27465288G>A	uc002rji.2	+	40	6377	c.6215G>A	c.(6214-6216)GGC>GAC	p.G2072D	CAD_uc010eyw.2_Missense_Mutation_p.G2009D	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	2072	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACTGTCAATGGCATGACGGTG	0.612		NA											3	47					0	0	0	0
TMEM178	130733	broad.mit.edu	37	2	39934301	39934301	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:39934301G>A	uc002rrt.2	+	3	652	c.627G>A	c.(625-627)GTG>GTA	p.V209V	TMEM178_uc010fam.1_Intron	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	209	Helical; (Potential).					integral to membrane					0		all_hematologic(82;0.248)				CCCAGCACGTGGCTGGACTCC	0.602		NA											3	58					0	0	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366736	40366736	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:40366736A>G	uc002rrx.2	-	9	2374	c.2350T>C	c.(2350-2352)TTC>CTC	p.F784L	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.F779L|SLC8A1_uc002rrz.2_Missense_Mutation_p.F771L|SLC8A1_uc002rsa.2_Missense_Mutation_p.F748L|SLC8A1_uc002rsd.3_Missense_Mutation_p.F748L	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	784	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCTTCCAGAACACAGTCAGA	0.498		NA											41	120					0	0	0	0
RETSAT	54884	broad.mit.edu	37	2	85581597	85581597	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:85581597G>A	uc002spd.2	-	1	225	c.34C>T	c.(34-36)CTG>TTG	p.L12L	ELMOD3_uc010fgg.2_5'Flank|ELMOD3_uc002spf.3_5'Flank|ELMOD3_uc002spg.3_5'Flank|ELMOD3_uc002sph.3_5'Flank|ELMOD3_uc010ysn.1_5'Flank|ELMOD3_uc010yso.1_5'Flank|ELMOD3_uc010ysp.1_5'Flank|RETSAT_uc010ysm.1_Silent_p.L12L|RETSAT_uc010fgf.2_Silent_p.L12L	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	12					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	GCCAGCAGCAGCACAGCCAGG	0.622		NA											31	59					0	0	0	0
EDAR	10913	broad.mit.edu	37	2	109527277	109527277	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:109527277C>T	uc002teq.3	-	8	1116	c.685G>A	c.(685-687)GTG>ATG	p.V229M	EDAR_uc010fjn.2_Missense_Mutation_p.V261M|EDAR_uc010yws.1_Missense_Mutation_p.V261M	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	229	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						TGGGCCTCCACGCTCTTCCCC	0.632		NA											6	64					0	0	0	0
THSD7B	80731	broad.mit.edu	37	2	138169326	138169326	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:138169326G>A	uc002tva.1	+	13	2750	c.2750G>A	c.(2749-2751)CGA>CAA	p.R917Q	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.R807Q	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGCCTCACCGAGGACTGCGG	0.488		NA											6	150					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141116461	141116461	+	Missense_Mutation	SNP	C	C	G	rs145962775		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:141116461C>G	uc002tvj.1	-	73	12158	c.11186G>C	c.(11185-11187)TGC>TCC	p.C3729S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3729	Extracellular (Potential).|LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGACTGTAGGCATATTCTGTT	0.383		NA								TSP Lung(27;0.18)			48	123					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141299474	141299474	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:141299474A>T	uc002tvj.1	-	44	8233	c.7261T>A	c.(7261-7263)TCG>ACG	p.S2421T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2421	Extracellular (Potential).|LDL-receptor class B 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCCAGTCCGACCAGAATATA	0.388		NA								TSP Lung(27;0.18)			40	106					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141643801	141643801	+	Silent	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:141643801T>A	uc002tvj.1	-	24	4842	c.3870A>T	c.(3868-3870)ACA>ACT	p.T1290T	LRP1B_uc010fnl.1_Silent_p.T472T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1290	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAGTGCTATTGTGTTTCTCA	0.358		NA								TSP Lung(27;0.18)			34	95					0	0	0	0
CYTIP	9595	broad.mit.edu	37	2	158283872	158283872	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:158283872C>T	uc002tzj.1	-	6	609	c.537G>A	c.(535-537)CAG>CAA	p.Q179Q	CYTIP_uc010zcl.1_Silent_p.Q73Q	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	179	Interaction with CYTH1.|Potential.				regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						CCTTTAAAACCTGCAGCTTTG	0.363		NA											9	28					0	0	0	0
XIRP2	129446	broad.mit.edu	37	2	168103683	168103683	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:168103683G>T	uc002udx.2	+	8	5799	c.5781G>T	c.(5779-5781)AGG>AGT	p.R1927S	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R1752S|XIRP2_uc010fpq.2_Missense_Mutation_p.R1705S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1752	Potential.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CATCACTAAGGTCTTTGAAAG	0.363		NA											19	45					2.35e-11	2.88e-11	1	0
GMPPA	29926	broad.mit.edu	37	2	220369977	220369977	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:220369977G>A	uc002vlr.2	+	8	716	c.648G>A	c.(646-648)GGG>GGA	p.G216G	GMPPA_uc002vls.2_Silent_p.G216G|GMPPA_uc002vlt.2_Silent_p.G216G|GMPPA_uc002vlu.2_Silent_p.G216G|GMPPA_uc002vlv.2_Silent_p.G216G|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Silent_p.G216G	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	216					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TGTGGCCAGGGGCAGGTACCA	0.577		NA											7	52					0	0	0	0
PAX3	5077	broad.mit.edu	37	2	223158889	223158889	+	Silent	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:223158889G>T	uc010fwo.2	-	4	949	c.583C>A	c.(583-585)CGA>AGA	p.R195R	PAX3_uc002vmt.1_Silent_p.R195R|PAX3_uc002vmy.1_Silent_p.R194R|PAX3_uc002vmv.1_Silent_p.R195R|PAX3_uc002vmw.1_Silent_p.R195R|PAX3_uc002vmx.1_Silent_p.R195R|PAX3_uc002vmz.1_Silent_p.R195R|PAX3_uc002vna.1_Silent_p.R195R	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	195					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCTTACCTCGCTCGCTCAGG	0.612		NA	T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						20	176					2.38e-13	2.95e-13	1	0
CSNK2A1	1457	broad.mit.edu	37	20	485836	485836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:485836G>A	uc002wdw.1	-	4	532	c.139C>T	c.(139-141)CGA>TGA	p.R47*	CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.R47*|CSNK2A1_uc002wdy.1_5'UTR	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	47	ATP (By similarity).|Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TATTTACCTCGGCCTAATTTT	0.343		NA											17	67					0	0	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209785	3209785	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:3209785G>A	uc002wig.2	-	15	2070	c.2022C>T	c.(2020-2022)ATC>ATT	p.I674I	SLC4A11_uc010zqe.1_Silent_p.I701I|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.I658I	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	674	Helical; (Potential).|Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						AGTTCTGCTCGATGAAGAAGA	0.667		NA											12	77					0	0	0	0
PLCB4	5332	broad.mit.edu	37	20	9417742	9417742	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:9417742T>A	uc002wnf.2	+	28	2807	c.2671T>A	c.(2671-2673)TCT>ACT	p.S891T	PLCB4_uc010gbw.1_Missense_Mutation_p.S891T|PLCB4_uc010gbx.2_Missense_Mutation_p.S903T|PLCB4_uc002wne.2_Missense_Mutation_p.S891T|PLCB4_uc002wnh.2_Missense_Mutation_p.S738T	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	891					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						TCAGAGTAGCTCTGAGCTCAG	0.542		NA											7	64					0	0	0	0
XKR7	343702	broad.mit.edu	37	20	30584546	30584546	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:30584546G>T	uc002wxe.2	+	3	1200	c.1026G>T	c.(1024-1026)TGG>TGT	p.W342C		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	342						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGACCTTCTGGGTCATCCAAG	0.562		NA											7	68					8.13e-05	9.08e-05	1	0
MC3R	4159	broad.mit.edu	37	20	54824142	54824142	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:54824142G>A	uc002xxb.2	+	1	355	c.243G>A	c.(241-243)GCG>GCA	p.A81A		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	118	Helical; Name=2; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			GCAGCCTGGCGGTGGCCGACA	0.567		NA											6	85					0	0	0	0
PRIC285	85441	broad.mit.edu	37	20	62197377	62197377	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr20:62197377C>T	uc002yfm.2	-	9	3690	c.2798G>A	c.(2797-2799)CGT>CAT	p.R933H	PRIC285_uc002yfl.1_Missense_Mutation_p.R364H	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	933					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CACGCACTCACGGATGAAGCT	0.701		NA											4	12					0	0	0	0
ERG	2078	broad.mit.edu	37	21	39755448	39755448	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr21:39755448G>A	uc010gnw.2	-	12	1633	c.1338C>T	c.(1336-1338)CCC>CCT	p.P446P	ERG_uc002yxa.2_Silent_p.P439P|ERG_uc011aek.1_Silent_p.P347P|ERG_uc010gnv.2_Silent_p.P323P|ERG_uc010gnx.2_Silent_p.P422P|ERG_uc011ael.1_Silent_p.P446P|ERG_uc002yxb.2_Silent_p.P422P	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	446					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				AAGATGTCACGGGGAGGGCTG	0.552		NA											18	40					0	0	0	0
CECR5	27440	broad.mit.edu	37	22	17619593	17619593	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:17619593G>A	uc002zmf.2	-	7	810	c.782C>T	c.(781-783)ACC>ATC	p.T261I	CECR5_uc002zmd.2_Missense_Mutation_p.T72I|CECR5_uc002zme.2_Missense_Mutation_p.T53I|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.T231I	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	261							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CTGGTAAATGGTTTCCAGGCA	0.542		NA											77	218					0	0	0	0
DGCR14	8220	broad.mit.edu	37	22	19121731	19121731	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:19121731C>T	uc002zou.2	-	10	1446	c.1409G>A	c.(1408-1410)CGC>CAC	p.R470H	DGCR14_uc002zot.2_Missense_Mutation_p.R391H|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	470					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					CGAAGCTTTGCGCCGGGCAGG	0.647		NA											3	65					0	0	0	0
CCDC116	164592	broad.mit.edu	37	22	21989393	21989393	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:21989393G>A	uc002zve.2	+	4	1134	c.1041G>A	c.(1039-1041)CCG>CCA	p.P347P	CCDC116_uc011aih.1_Silent_p.P347P	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	347										ovary(1)|skin(1)	2	Colorectal(54;0.105)					CAGATCTGCCGCCTCTGGGCT	0.642		NA											14	46					0	0	0	0
ELFN2	114794	broad.mit.edu	37	22	37769205	37769205	+	Silent	SNP	G	G	A	rs148494870	by1000genomes	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr22:37769205G>A	uc003asq.3	-	3	3156	c.2370C>T	c.(2368-2370)CAC>CAT	p.H790H		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	790	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					TGCGCAGGGCGTGACCGGCGG	0.627		NA											10	118					0	0	0	0
ULK4	54986	broad.mit.edu	37	3	41439704	41439704	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:41439704T>C	uc003ckv.3	-	35	3745	c.3544A>G	c.(3544-3546)ATA>GTA	p.I1182V		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	1182	HEAT 4.						ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGAACCAGTATAGACAGGCAC	0.393		NA											28	105					0	0	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64582637	64582637	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:64582637G>A	uc003dmg.2	-	27	4080	c.4048C>T	c.(4048-4050)CGG>TGG	p.R1350W	ADAMTS9_uc011bfo.1_Missense_Mutation_p.R1322W|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R1179W|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R261W	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1350	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAACACGCCGCTGGGATCCG	0.498		NA											24	73					0	0	0	0
MAGI1	9223	broad.mit.edu	37	3	65350391	65350391	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:65350391G>A	uc003dmn.2	-	20	3826	c.3300C>T	c.(3298-3300)ACC>ACT	p.T1100T	MAGI1_uc003dmm.2_Silent_p.T1128T|MAGI1_uc003dmo.2_Silent_p.T1129T|MAGI1_uc003dmp.2_Silent_p.T1033T	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1129	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCTTTGGTTTGGTGGTATTCC	0.393		NA											29	97					0	0	0	0
RYBP	23429	broad.mit.edu	37	3	72495696	72495696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:72495696C>A	uc003dpe.2	-	1	196	c.79G>T	c.(79-81)GAA>TAA	p.E27*		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	37	RanBP2-type.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding				0		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TTAAAGGCTTCAGCACTGTTT	0.468		NA											4	24					0.000602214	0.000660788	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433986	73433986	+	Missense_Mutation	SNP	G	G	T	rs151244384		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:73433986G>T	uc003dpl.1	-	10	1827	c.1731C>A	c.(1729-1731)AGC>AGA	p.S577R	PDZRN3_uc011bgh.1_Missense_Mutation_p.S234R|PDZRN3_uc010hoe.1_Missense_Mutation_p.S275R|PDZRN3_uc011bgf.1_Missense_Mutation_p.S294R|PDZRN3_uc011bgg.1_Missense_Mutation_p.S297R	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	577							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CATTACGGGTGCTCTCGTCGG	0.622		NA											12	42					4.38e-07	5.13e-07	1	0
EPHA3	2042	broad.mit.edu	37	3	89521735	89521735	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:89521735A>G	uc003dqy.2	+	16	3037	c.2812A>G	c.(2812-2814)AGT>GGT	p.S938G	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	938	Cytoplasmic (Potential).|SAM.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTGGAGTACAGTTCTTGTGA	0.408		NA								TSP Lung(6;0.00050)			28	124					0	0	0	0
DCBLD2	131566	broad.mit.edu	37	3	98520447	98520447	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:98520447C>G	uc003dtd.2	-	14	2080	c.1717G>C	c.(1717-1719)GCA>CCA	p.A573P	DCBLD2_uc003dte.2_Missense_Mutation_p.A573P	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	573	Cytoplasmic (Potential).				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						GAGTTACCTGCCCGGTCCCAG	0.448		NA											10	19					0	0	0	0
MORC1	27136	broad.mit.edu	37	3	108725922	108725922	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:108725922A>G	uc003dxl.2	-	18	1808	c.1721T>C	c.(1720-1722)GTG>GCG	p.V574A	MORC1_uc011bhn.1_Intron	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	574					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						GATTTCGTCCACTGGTATAAA	0.363		NA											24	108					0	0	0	0
DPPA2	151871	broad.mit.edu	37	3	109028054	109028054	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:109028054T>C	uc003dxo.2	-	4	552	c.305A>G	c.(304-306)GAC>GGC	p.D102G		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	102	SAP.					nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						TTGACACCAGTCCCGCAAAGT	0.443		NA											13	529					0	0	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119135065	119135065	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:119135065G>A	uc003ecj.3	+	12	4821	c.4289G>A	c.(4288-4290)CGG>CAG	p.R1430Q		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1430					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CAGCCTCAGCGGAGATCAGTA	0.448		NA											9	107					0	0	0	0
MCM2	4171	broad.mit.edu	37	3	127337882	127337882	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:127337882G>A	uc003ejp.2	+	13	2083	c.2026G>A	c.(2026-2028)GCC>ACC	p.A676T	MCM2_uc011bkm.1_Missense_Mutation_p.A546T|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.A629T	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	676	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						CGAGATGCTGGCCCGCTTCGT	0.632		NA											7	16					0	0	0	0
IFT80	57560	broad.mit.edu	37	3	160095273	160095273	+	Silent	SNP	G	G	A	rs137853115		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:160095273G>A	uc011boy.1	-	4	748	c.315C>T	c.(313-315)CAC>CAT	p.H105H	IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	105	WD 2.		H -> Q (in ATD2).			cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTGCTCCACAGTGAGCTTCTA	0.303		NA											81	166					0	0	0	0
SI	6476	broad.mit.edu	37	3	164700056	164700056	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:164700056G>A	uc003fei.2	-	47	5452	c.5390C>T	c.(5389-5391)CCT>CTT	p.P1797L		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1797	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCATTAAAAGGAAGCGAATT	0.358		NA								HNSCC(35;0.089)			33	89					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178922319	178922319	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:178922319G>C	uc003fjk.2	+	6	1245	c.1088G>C	c.(1087-1089)GGA>GCA	p.G363A		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	363	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCTACCATGGAGGAGAACCC	0.348		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			52	177					0	0	0	0
TMEM41A	90407	broad.mit.edu	37	3	185209390	185209390	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:185209390G>C	uc003fpj.2	-	5	826	c.730C>G	c.(730-732)CAG>GAG	p.Q244E	TMEM41A_uc003fpk.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	transmembrane protein 41A precursor	244						integral to membrane					0	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGATGTTTCTGACTAAATTTT	0.408		NA											5	192					0	0	0	0
SLIT2	9353	broad.mit.edu	37	4	20618727	20618727	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:20618727C>A	uc003gpr.1	+	35	4246	c.4042C>A	c.(4042-4044)CCC>ACC	p.P1348T	SLIT2_uc003gps.1_Missense_Mutation_p.P1340T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1348	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CACATGCCAGCCCAGCAGCCA	0.577		NA											11	34					3.86e-05	4.36e-05	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95197554	95197554	+	Missense_Mutation	SNP	G	G	C	rs150935622		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:95197554G>C	uc003htc.3	+	15	2128	c.1873G>C	c.(1873-1875)GCA>CCA	p.A625P	SMARCAD1_uc003htb.3_Missense_Mutation_p.A625P|SMARCAD1_uc003htd.3_Missense_Mutation_p.A625P|SMARCAD1_uc010ila.2_Missense_Mutation_p.A488P|SMARCAD1_uc011cdw.1_Missense_Mutation_p.A195P	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	625	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ACTTAATTACGCAATTTTTGA	0.383		NA											21	79					0	0	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109681435	109681435	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:109681435C>T	uc003hzc.2	-	2	265	c.84G>A	c.(82-84)TCG>TCA	p.S28S	AGXT2L1_uc010imc.2_Silent_p.S28S|AGXT2L1_uc011cfm.1_5'UTR|AGXT2L1_uc011cfn.1_Intron|AGXT2L1_uc011cfo.1_Intron	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	28					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TGATGGGATCCGATGCAAAGA	0.428		NA											55	130					0	0	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504465	151504465	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:151504465C>A	uc003ilw.2	+	1	1389	c.284C>A	c.(283-285)CCC>CAC	p.P95H	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	95					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GGCTCGCTGCCCGGCTGCGCA	0.602		NA											11	91					1.09e-07	1.28e-07	1	0
DDX60	55601	broad.mit.edu	37	4	169157507	169157507	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:169157507G>C	uc003irp.2	-	33	4721	c.4429C>G	c.(4429-4431)CAA>GAA	p.Q1477E		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1477							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATAACGTCTTGAGAAAAATGT	0.303		NA											12	90					0	0	0	0
C4orf41	60684	broad.mit.edu	37	4	184633772	184633772	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr4:184633772A>G	uc003ivx.2	+	30	3553	c.3377A>G	c.(3376-3378)GAT>GGT	p.D1126G	C4orf41_uc003ivw.2_Silent_p.G1086G|C4orf41_uc010isc.2_Silent_p.G430G|C4orf41_uc003ivy.2_Missense_Mutation_p.D732G	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	1126											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		CGACTCATGGATGATACCTCT	0.393		NA											26	253					0	0	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1330403	1330403	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:1330403C>T	uc003jch.2	-	9	1118	c.1072G>A	c.(1072-1074)GCC>ACC	p.A358T	CLPTM1L_uc003jcg.2_Intron	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	358	Helical; (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACCTCAATGGCGGCTCCAACA	0.622		NA											56	71					0	0	0	0
CDH10	1008	broad.mit.edu	37	5	24488015	24488015	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:24488015C>A	uc003jgr.1	-	12	2456	c.2124G>T	c.(2122-2124)ACG>ACT	p.T708T	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	708	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CCCGGACGTCCGTGTTATCTG	0.473		NA								HNSCC(23;0.051)			41	160					1.59e-14	2e-14	1	0
PDZD2	23037	broad.mit.edu	37	5	31983676	31983677	+	Missense_Mutation	DNP	GA	GA	AC			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:31983676_31983677GA>AC	uc003jhl.2	+	3	1280_1281	c.892_893GA>AC	c.(892-894)GAT>ACT	p.D298T	PDZD2_uc003jhm.2_Missense_Mutation_p.D298T|PDZD2_uc011cnx.1_Missense_Mutation_p.D124T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	298					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TCCAAAGACAGATGCTCCTCTG	0.515		NA											36	186					0	0	0	0
LIFR	3977	broad.mit.edu	37	5	38484967	38484967	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:38484967A>T	uc010ive.1	-	18	2833	c.2501T>A	c.(2500-2502)GTG>GAG	p.V834E	LIFR_uc003jli.2_Missense_Mutation_p.V834E	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	834	Helical; (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					AATTAATCCCACAGCTGAAAC	0.368		NA	T	PLAG1	salivary adenoma								24	18					0	0	0	0
C9	735	broad.mit.edu	37	5	39341764	39341764	+	Silent	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:39341764A>G	uc003jlv.3	-	3	311	c.222T>C	c.(220-222)AAT>AAC	p.N74N		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	74	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATCTTTTCCCATTAAATTGTC	0.443		NA											32	60					0	0	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101795457	101795457	+	Silent	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:101795457T>C	uc003knn.2	-	5	1096	c.924A>G	c.(922-924)CCA>CCG	p.P308P	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Silent_p.P308P|SLCO6A1_uc003knq.2_Silent_p.P246P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	308	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATAGCCATTCTGGACTACCAT	0.353		NA											42	93					0	0	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129072905	129072905	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:129072905G>C	uc003kvb.1	+	23	3618	c.3618G>C	c.(3616-3618)AAG>AAC	p.K1206N	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1206					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCAGCAGAAGAGTTGACCTC	0.448		NA											14	18					0	0	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515572	140515572	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:140515572G>A	uc003liq.2	+	1	773	c.556G>A	c.(556-558)GGA>AGA	p.G186R		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	186	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATAATCGCGGAGATGGCAG	0.517		NA											23	66					0	0	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145979965	145979965	+	Silent	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:145979965C>A	uc003loe.2	-	7	1374	c.849G>T	c.(847-849)TCG>TCT	p.S283S	PPP2R2B_uc010jgm.2_Silent_p.S272S|PPP2R2B_uc003log.3_Silent_p.S283S|PPP2R2B_uc003lof.3_Silent_p.S283S|PPP2R2B_uc003loi.3_Silent_p.S286S|PPP2R2B_uc003loh.3_Silent_p.S283S|PPP2R2B_uc003loj.3_Silent_p.S263S|PPP2R2B_uc003lok.3_Silent_p.S272S|PPP2R2B_uc011dbu.1_Silent_p.S289S|PPP2R2B_uc011dbv.1_Silent_p.S341S	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	283	WD 5.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCCGAAATCGAAGAGATAA	0.428		NA											42	69					3.43e-17	4.36e-17	1	0
NSD1	64324	broad.mit.edu	37	5	176687152	176687152	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:176687152G>C	uc003mfr.3	+	14	5267	c.5129G>C	c.(5128-5130)TGC>TCC	p.C1710S	NSD1_uc003mft.3_Missense_Mutation_p.C1441S|NSD1_uc003mfs.1_Missense_Mutation_p.C1607S|NSD1_uc011dfx.1_Missense_Mutation_p.C1358S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1710	PHD-type 3.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTAGCTGGTGCTTTGTGTGC	0.383		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			15	31					0	0	0	0
JARID2	3720	broad.mit.edu	37	6	15512521	15512521	+	Missense_Mutation	SNP	C	C	T	rs145282448		TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:15512521C>T	uc003nbj.2	+	14	3279	c.3035C>T	c.(3034-3036)CCG>CTG	p.P1012L	JARID2_uc011div.1_Missense_Mutation_p.P840L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1012	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GTCTGCTTCCCGGGATCCTTT	0.582		NA											6	133					0	0	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596542	24596542	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:24596542C>G	uc011djo.1	-	3	597	c.360G>C	c.(358-360)ATG>ATC	p.M120I	KIAA0319_uc011djp.1_Missense_Mutation_p.M75I|KIAA0319_uc003neh.1_Missense_Mutation_p.M120I|KIAA0319_uc011djq.1_Missense_Mutation_p.M111I|KIAA0319_uc011djr.1_Missense_Mutation_p.M120I	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	120	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						CCCTGTTCAGCATCATGTCCC	0.557		NA											71	74					0	0	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056327	26056327	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:26056327C>A	uc003nfw.2	-	1	373	c.330G>T	c.(328-330)AAG>AAT	p.K110N		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	110					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						CGGAGGCTGCCTTCTTGTTGA	0.567		NA											9	200					1.13e-05	1.29e-05	1	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806588	27806588	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:27806588A>G	uc003njv.2	+	1	149	c.149A>G	c.(148-150)CAC>CGC	p.H50R	HIST1H2AK_uc003njs.2_5'Flank|HIST1H2BN_uc003njt.1_RNA|HIST1H2BN_uc003nju.1_Missense_Mutation_p.H50R	NM_003520	NP_003511	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	50					nucleosome assembly	nucleosome|nucleus	DNA binding				0						AAGCAGGTCCACCCCGACACC	0.597		NA											89	305					0	0	0	0
RPS10	6204	broad.mit.edu	37	6	34392463	34392463	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:34392463C>T	uc003ojm.2	-	3	525	c.305G>A	c.(304-306)GGC>GAC	p.G102D	RPS10_uc003ojn.2_Missense_Mutation_p.G102D	NM_001014	NP_001005	P46783	RS10_HUMAN	ribosomal protein S10	102					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding				0						CCGAGGCCTGCCAGTCTCTGG	0.498		NA											3	52					0	0	0	0
KIF6	221458	broad.mit.edu	37	6	39602685	39602685	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:39602685T>C	uc003oot.2	-	5	544	c.449A>G	c.(448-450)AAT>AGT	p.N150S	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Missense_Mutation_p.N150S|KIF6_uc010jxb.1_Missense_Mutation_p.N150S	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	150	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						ACCACATTCATTGTAGATTTC	0.363		NA											45	128					0	0	0	0
MEP1A	4224	broad.mit.edu	37	6	46806851	46806851	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:46806851T>C	uc010jzh.1	+	14	2261	c.2219T>C	c.(2218-2220)CTT>CCT	p.L740P	MEP1A_uc011dwg.1_Missense_Mutation_p.L462P|MEP1A_uc011dwh.1_Missense_Mutation_p.L768P|MEP1A_uc011dwi.1_Missense_Mutation_p.L640P	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	740	Helical; (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			ATCGCCATCCTTTCCCAAAGG	0.587		NA											41	107					0	0	0	0
MTO1	25821	broad.mit.edu	37	6	74191953	74191953	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:74191953G>T	uc003pgy.3	+	9	1650	c.1526G>T	c.(1525-1527)CGG>CTG	p.R509L	MTO1_uc010kav.2_Missense_Mutation_p.R524L|MTO1_uc003pgz.3_Missense_Mutation_p.R484L|MTO1_uc003pha.3_Missense_Mutation_p.R146L|MTO1_uc003phb.3_Missense_Mutation_p.R435L	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN	mitochondrial translation optimization 1 homolog	509					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(3)|skin(2)|pancreas(1)	6						GCTGACAGCCGGCTCACACTG	0.373		NA											18	64					1.45e-14	1.83e-14	1	0
HACE1	57531	broad.mit.edu	37	6	105243517	105243517	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:105243517T>C	uc003pqu.1	-	10	1137	c.860A>G	c.(859-861)CAG>CGG	p.Q287R	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.Q287R	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	287					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTTTAGGTACTGGCTTTCACT	0.338		NA											22	102					0	0	0	0
VNN1	8876	broad.mit.edu	37	6	133014422	133014422	+	Missense_Mutation	SNP	A	A	T	rs141622053	byFrequency	TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr6:133014422A>T	uc003qdo.2	-	4	587	c.567T>A	c.(565-567)AAT>AAA	p.N189K		NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	189	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCTTGGGTACATTGAATTGAT	0.373		NA											17	74					0	0	0	0
LFNG	3955	broad.mit.edu	37	7	2559807	2559807	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:2559807C>T	uc003smf.2	+	1	329	c.312C>T	c.(310-312)CGC>CGT	p.R104R	LFNG_uc003smg.2_Silent_p.R104R	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	lunatic fringe isoform a	104	Lumenal (Potential).			R -> A (in Ref. 3; AAF07187).	organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		gccacccgcgccccctggccg	0.373		NA											7	7					0	0	0	0
NPSR1	387129	broad.mit.edu	37	7	34724268	34724268	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:34724268C>T	uc003teg.1	+	2	380	c.252C>T	c.(250-252)ACC>ACT	p.T84T	AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.T84T|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.T84T|NPSR1_uc003tei.1_Silent_p.T84T|NPSR1_uc010kww.1_Silent_p.T84T|NPSR1_uc011kar.1_Silent_p.T84T	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	84	Helical; Name=2; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	CAAGAATGACCTTCTTTGTGA	0.418		NA											38	125					0	0	0	0
ELMO1	9844	broad.mit.edu	37	7	37298793	37298793	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:37298793C>A	uc003tfk.1	-	6	713	c.406G>T	c.(406-408)GGC>TGC	p.G136C	ELMO1_uc011kbc.1_Missense_Mutation_p.G40C|ELMO1_uc010kxg.1_Missense_Mutation_p.G136C	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	136					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TACTCAGTGCCGCTCTCCACC	0.502		NA											12	33					0.000978159	0.00107167	1	0
GPR141	353345	broad.mit.edu	37	7	37780085	37780085	+	Silent	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:37780085C>T	uc003tfm.1	+	1	90	c.90C>T	c.(88-90)GGC>GGT	p.G30G	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	30	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						TGCTTATTGGCGGGCTGGTGG	0.507		NA											54	142					0	0	0	0
TARP	445347	broad.mit.edu	37	7	38313237	38313237	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:38313237C>A	uc003tge.1	-	4	755	c.378G>T	c.(376-378)TTG>TTT	p.L126F	uc003tfz.1_Intron|TARP_uc003tgb.2_5'UTR|TARP_uc003tgc.1_5'UTR|TARP_uc003tgd.1_Intron|TARP_uc010kxi.1_Intron|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA			A2JGV3	A2JGV3_HUMAN	Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.	Error:Variant_position_missing_in_A2JGV3_after_alignment											0						TTTTTTTGCCCAACTCTTGCC	0.269		NA											56	214					3.07e-27	3.97e-27	1	0
ABCA13	154664	broad.mit.edu	37	7	48390265	48390265	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:48390265C>A	uc003toq.2	+	30	10255	c.10230C>A	c.(10228-10230)AAC>AAA	p.N3410K	ABCA13_uc010kys.1_Missense_Mutation_p.N484K|ABCA13_uc003tos.1_Missense_Mutation_p.N236K	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3410					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AGATGTTTAACCATGCAGGCG	0.512		NA											47	217					6.08e-21	7.8e-21	1	0
NSUN5	55695	broad.mit.edu	37	7	72722501	72722501	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:72722501G>C	uc003txw.2	-	2	179	c.143C>G	c.(142-144)GCC>GGC	p.A48G	FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Missense_Mutation_p.A48G|NSUN5_uc003txx.2_Missense_Mutation_p.A48G|NSUN5_uc011kev.1_Missense_Mutation_p.A48G	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	NOL1/NOP2/Sun domain family, member 5 isoform 2	48							methyltransferase activity				0		Lung NSC(55;0.163)				ATCCAGCACGGCGGAGTAGCG	0.687		NA											23	78					0	0	0	0
CDK14	5218	broad.mit.edu	37	7	90419941	90419941	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:90419941G>T	uc003uky.2	+	5	740	c.518G>T	c.(517-519)GGG>GTG	p.G173V	CDK14_uc003ukt.1_Missense_Mutation_p.G127V|CDK14_uc003ukv.1_Missense_Mutation_p.G127V|CDK14_uc003uku.1_Missense_Mutation_p.G127V|CDK14_uc003ukx.1_RNA|CDK14_uc003ukz.1_Missense_Mutation_p.G155V|CDK14_uc010les.1_Missense_Mutation_p.G127V|CDK14_uc011khl.1_Missense_Mutation_p.G44V	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	173	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						GAAGAAGAAGGGACACCTTTC	0.403		NA											21	87					1.98e-07	2.33e-07	1	0
AKAP9	10142	broad.mit.edu	37	7	91709455	91709455	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:91709455G>C	uc003ulg.2	+	31	8233	c.8008G>C	c.(8008-8010)GAA>CAA	p.E2670Q	AKAP9_uc003ulf.2_Missense_Mutation_p.E2662Q|AKAP9_uc003uli.2_Missense_Mutation_p.E2293Q|AKAP9_uc003ulj.2_Missense_Mutation_p.E440Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2682	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAAGATGTTGAAGTTCTCAA	0.323		NA	T	BRAF	papillary thyroid								8	32					0	0	0	0
PDK4	5166	broad.mit.edu	37	7	95222138	95222138	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:95222138G>A	uc003uoa.2	-	4	783	c.463C>T	c.(463-465)CTT>TTT	p.L155F	PDK4_uc003unz.2_5'Flank	NM_002612	NP_002603	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase 4 precursor	155	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity				0	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			AAATATTGAAGATTTTGATTG	0.383		NA											41	146					0	0	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99764268	99764268	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:99764268G>A	uc003utt.2	-	2	1303	c.286C>T	c.(286-288)CGC>TGC	p.R96C	GAL3ST4_uc003utu.2_Missense_Mutation_p.R96C|GAL3ST4_uc010lgq.2_Intron	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	96	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGCGAAGCGCAGCCCGTGC	0.637		NA											27	196					0	0	0	0
THAP5	168451	broad.mit.edu	37	7	108205353	108205353	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:108205353C>T	uc003vfm.2	-	3	624	c.470G>A	c.(469-471)GGA>GAA	p.G157E	THAP5_uc003vfl.2_Missense_Mutation_p.G115E	NM_001130475	NP_001123947	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5 isoform 1	157					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding				0						TTGTATACTTCCTGTTTTGGG	0.358		NA											7	25					0	0	0	0
GRM8	2918	broad.mit.edu	37	7	126173263	126173263	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:126173263A>T	uc003vlr.2	-	8	2484	c.2173T>A	c.(2173-2175)TAT>AAT	p.Y725N	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Y725N|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	725	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGCTCTCCATAGTCAATGATG	0.502		NA								HNSCC(24;0.065)			20	45					0	0	0	0
ADCK2	90956	broad.mit.edu	37	7	140380909	140380909	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr7:140380909G>C	uc003vvy.1	+	4	1455	c.1277G>C	c.(1276-1278)CGG>CCG	p.R426P	ADCK2_uc003vvz.2_Missense_Mutation_p.R426P	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	426	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					AAGATTGCACGGCTGGGGATC	0.562		NA											18	49					0	0	0	0
CSMD1	64478	broad.mit.edu	37	8	3059159	3059159	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:3059159G>A	uc011kwk.1	-	32	5466	c.5076C>T	c.(5074-5076)CTC>CTT	p.L1692L	CSMD1_uc011kwj.1_Silent_p.L1084L|CSMD1_uc003wqe.2_Silent_p.L848L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1692	Extracellular (Potential).|CUB 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGAGTGAGCTGAGAAGTCTGG	0.408		NA											3	19					0	0	0	0
RP1L1	94137	broad.mit.edu	37	8	10468035	10468035	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:10468035C>G	uc003wtc.2	-	4	3802	c.3573G>C	c.(3571-3573)GAG>GAC	p.E1191D		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1191					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GCGTGAAGTTCTCCGTCATGG	0.627		NA											24	36					0	0	0	0
WRN	7486	broad.mit.edu	37	8	30949360	30949360	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:30949360C>T	uc003xio.3	+	16	2632	c.1844C>T	c.(1843-1845)CCA>CTA	p.P615L	WRN_uc010lvk.2_Missense_Mutation_p.P82L	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	615	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCCAACATCCCAGCTTGCTTC	0.264		NA	Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				15	104					0	0	0	0
EIF4EBP1	1978	broad.mit.edu	37	8	37914778	37914778	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:37914778G>T	uc003xks.2	+	2	397	c.325G>T	c.(325-327)GGT>TGT	p.G109C		NM_004095	NP_004086	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E	109					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol					0	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				GCGGGCGGGCGGTGAGTGTCG	0.622		NA											25	106					2.8e-10	3.4e-10	1	0
ANK1	286	broad.mit.edu	37	8	41530294	41530294	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:41530294G>A	uc003xok.2	-	38	4758	c.4674C>T	c.(4672-4674)GAC>GAT	p.D1558D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Silent_p.D1558D|ANK1_uc003xoj.2_Silent_p.D1558D|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Silent_p.D1599D	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1558	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCAGCATGGTGTCATGCTCCG	0.612		NA											9	77					0	0	0	0
PXDNL	137902	broad.mit.edu	37	8	52321119	52321119	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:52321119A>C	uc003xqu.3	-	17	3166	c.3065T>G	c.(3064-3066)CTG>CGG	p.L1022R	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1022					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGGGTCCCCCAGGACCTTAGG	0.562		NA											6	17					0	0	0	0
ST18	9705	broad.mit.edu	37	8	53085133	53085133	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:53085133C>A	uc003xqz.2	-	5	444	c.288G>T	c.(286-288)ATG>ATT	p.M96I	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.M61I|ST18_uc011lds.1_Missense_Mutation_p.M1I|ST18_uc003xra.2_Missense_Mutation_p.M96I|ST18_uc003xrb.2_Missense_Mutation_p.M96I	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	96						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TAGGTTTTATCATGATTTCCT	0.299		NA											29	67					1.89e-17	2.4e-17	1	0
RP1	6101	broad.mit.edu	37	8	55540810	55540810	+	Silent	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:55540810A>G	uc003xsd.1	+	4	4516	c.4368A>G	c.(4366-4368)ACA>ACG	p.T1456T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1456					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAGCATGACATCAAGTGAAA	0.373		NA											35	114					0	0	0	0
IMPAD1	54928	broad.mit.edu	37	8	57890701	57890701	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:57890701T>G	uc003xte.3	-	3	837	c.554A>C	c.(553-555)GAT>GCT	p.D185A		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	185						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CTTTCGAAGATCCTCTATGAG	0.313		NA											12	349					0	0	0	0
NKAIN3	286183	broad.mit.edu	37	8	63492237	63492237	+	Splice_Site	SNP	T	T	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:63492237T>C	uc010lyq.1	+	2	324	c.192_splice	c.e2+2	p.V64_splice		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3							integral to membrane|plasma membrane					0	Breast(64;0.127)	Lung NSC(129;0.187)				ATAATGGTGGTAAGTCTTATT	0.323		NA											29	75					0	0	0	0
PI15	51050	broad.mit.edu	37	8	75756223	75756223	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:75756223A>G	uc003yal.2	+	3	460	c.281A>G	c.(280-282)GAT>GGT	p.D94G	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.D94G	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	94						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CAGGTTTGGGATGAAAATCTT	0.393		NA											46	186					0	0	0	0
PGCP	10404	broad.mit.edu	37	8	97797214	97797214	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:97797214A>T	uc003yhw.2	+	2	255	c.89A>T	c.(88-90)AAG>ATG	p.K30M	PGCP_uc010mbe.2_Missense_Mutation_p.K30M	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	30					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					GGCATCTCTAAGAGGACTTTT	0.393		NA											78	191					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412536	110412536	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:110412536C>A	uc003yne.2	+	13	1348	c.1244C>A	c.(1243-1245)GCT>GAT	p.A415D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	415	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACCGTTATGCTATTTATTTT	0.368		NA								HNSCC(38;0.096)			16	263					2.32e-09	2.79e-09	1	0
CSMD3	114788	broad.mit.edu	37	8	113395804	113395804	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:113395804C>A	uc003ynu.2	-	37	6182	c.6023G>T	c.(6022-6024)AGC>ATC	p.S2008I	CSMD3_uc003yns.2_Missense_Mutation_p.S1210I|CSMD3_uc003ynt.2_Missense_Mutation_p.S1968I|CSMD3_uc011lhx.1_Missense_Mutation_p.S1904I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2008	Extracellular (Potential).|CUB 11.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ACCTGAATAGCTTCCAAGTCT	0.333		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	129					1.01e-13	1.26e-13	1	0
KCNV2	169522	broad.mit.edu	37	9	2718222	2718222	+	Silent	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:2718222C>G	uc003zho.1	+	1	697	c.483C>G	c.(481-483)GTC>GTG	p.V161V		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	161	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		TCCAGCTGGTCTACAATTTCT	0.642		NA											6	29					0	0	0	0
IFNA16	3449	broad.mit.edu	37	9	21216750	21216750	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:21216750T>A	uc003zor.1	-	1	561	c.555A>T	c.(553-555)TTA>TTT	p.L185F	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	interferon, alpha 16 precursor	185					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			skin(1)	1				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTTCCTTCTTAATCCTTTTT	0.373		NA											99	253					0	0	0	0
PCSK5	5125	broad.mit.edu	37	9	78749092	78749092	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:78749092G>A	uc004ajz.2	+	10	1814	c.1276G>A	c.(1276-1278)GCT>ACT	p.A426T	PCSK5_uc004ajy.2_Missense_Mutation_p.A426T|PCSK5_uc004aka.2_Intron	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	426	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						ACATTTGAACGCTAATGACTG	0.418		NA											6	140					0	0	0	0
OR2K2	26248	broad.mit.edu	37	9	114090596	114090596	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:114090596A>T	uc011lwp.1	-	1	118	c.118T>A	c.(118-120)TTG>ATG	p.L40M		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K,	69	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTGTTGCCCAAGAGCGTTGTC	0.413		NA											46	95					0	0	0	0
OR1B1	347169	broad.mit.edu	37	9	125391138	125391138	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:125391138C>A	uc011lyz.1	-	1	677	c.677G>T	c.(676-678)CGA>CTA	p.R226L		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGCCCCAATTCGGACATAAGA	0.542		NA											19	64					2.94e-08	3.5e-08	1	0
GPR21	2844	broad.mit.edu	37	9	125797359	125797359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:125797359G>T	uc011lzk.1	+	1	514	c.514G>T	c.(514-516)GGA>TGA	p.G172*	RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	NM_005294	NP_005285	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	172	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1						GGGCAAACCTGGATATCATGG	0.512		NA											43	224					5.45e-19	6.96e-19	1	0
NEK6	10783	broad.mit.edu	37	9	127089616	127089616	+	Splice_Site	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:127089616G>A	uc004bog.2	+	7	664	c.515_splice	c.e7-1	p.D172_splice	NEK6_uc004bof.2_Splice_Site_p.D190_splice|NEK6_uc004boh.2_Splice_Site_p.D206_splice|NEK6_uc010mwj.2_Splice_Site_p.D125_splice|NEK6_uc010mwk.2_Splice_Site_p.D172_splice|NEK6_uc004boi.2_Splice_Site_p.D172_splice	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2						apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						TCGCCCTGCAGACATCAAGCC	0.632		NA											100	233					0	0	0	0
UCK1	83549	broad.mit.edu	37	9	134404388	134404388	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:134404388C>G	uc004cay.2	-	5	647	c.546G>C	c.(544-546)CAG>CAC	p.Q182H	UCK1_uc010mzk.2_Missense_Mutation_p.Q173H|UCK1_uc004cba.2_Intron|UCK1_uc004caz.2_RNA	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1 isoform a	182					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCGTCAGAATCTGCTCCAGGT	0.642		NA											11	20					0	0	0	0
KIAA0649	9858	broad.mit.edu	37	9	138377302	138377302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr9:138377302G>T	uc004cfr.1	+	4	1495	c.946G>T	c.(946-948)GAG>TAG	p.E316*		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	316						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		GCAGGAGAACGAGGGCAGCAC	0.602		NA											21	124					1.26e-06	1.47e-06	1	0
SH3KBP1	30011	broad.mit.edu	37	X	19725001	19725001	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:19725001C>G	uc004czm.2	-	4	704	c.388G>C	c.(388-390)GAG>CAG	p.E130Q	SH3KBP1_uc004czl.2_Missense_Mutation_p.E93Q	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	130	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						TCGCTTACCTCTCCTACCACC	0.582		NA											17	25					0	0	0	0
FAM47B	170062	broad.mit.edu	37	X	34962575	34962575	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:34962575C>A	uc004ddi.1	+	1	1645	c.1627C>A	c.(1627-1629)CGT>AGT	p.R543S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	543										ovary(3)|breast(1)	4						TAGTGCACAGCGTGGGAGGAT	0.498		NA											45	53					8.05e-35	1.05e-34	1	0
PRRG1	5638	broad.mit.edu	37	X	37285132	37285132	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:37285132G>A	uc004ddn.2	+	4	303	c.50G>A	c.(49-51)CGC>CAC	p.R17H	PRRG1_uc004ddo.2_Missense_Mutation_p.R17H|PRRG1_uc010ngx.1_RNA	NM_000950	NP_000941	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	17						extracellular region|integral to plasma membrane	calcium ion binding			ovary(1)|breast(1)	2						ATATTAAAACGCTACCCAAGA	0.358		NA											4	51					0	0	0	0
FOXP3	50943	broad.mit.edu	37	X	49107877	49107877	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:49107877A>C	uc004dnf.3	-	12	1402	c.1214T>G	c.(1213-1215)GTG>GGG	p.V405G	FOXP3_uc011mnb.1_Missense_Mutation_p.V428G|FOXP3_uc011mnc.1_Missense_Mutation_p.V378G|FOXP3_uc004dne.3_Missense_Mutation_p.V370G|FOXP3_uc010niq.1_Missense_Mutation_p.V430G	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	forkhead box P3 isoform a	405	Fork-head.				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding				0	Ovarian(276;0.236)					CACGGTCCACACAGCCCCCTT	0.617		NA											4	31					0	0	0	0
KIF4A	24137	broad.mit.edu	37	X	69563610	69563610	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:69563610G>T	uc004dyg.2	+	12	1451	c.1324G>T	c.(1324-1326)GCC>TCC	p.A442S	KIF4A_uc010nkw.2_Missense_Mutation_p.A442S|KIF4A_uc004dyf.1_Missense_Mutation_p.A442S	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	442	Potential.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						GCAGCATGCGGCGTAAGTTGC	0.468		NA											15	21					4.15e-12	5.09e-12	1	0
TAF1	6872	broad.mit.edu	37	X	70618460	70618460	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:70618460A>G	uc004dzu.3	+	24	3707	c.3656A>G	c.(3655-3657)GAG>GGG	p.E1219G	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.E1240G|TAF1_uc004dzv.3_Missense_Mutation_p.E393G	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1219	HMG box.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				CATCGGGAAGAGATGCGAAAA	0.468		NA											6	39					0	0	0	0
ITM2A	9452	broad.mit.edu	37	X	78616844	78616844	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:78616844G>T	uc004edh.2	-	5	1020	c.685C>A	c.(685-687)CGC>AGC	p.R229S	ITM2A_uc011mqr.1_Missense_Mutation_p.R185S	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A	229						integral to membrane	protein binding			lung(2)	2						AGGTCTCTGCGACGAAGGCGG	0.438		NA											31	40					3.9e-15	4.92e-15	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009098	88009098	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:88009098G>T	uc004efd.3	+	3	942	c.683G>T	c.(682-684)AGA>ATA	p.R228I	CPXCR1_uc004efc.3_Missense_Mutation_p.R228I	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	228						intracellular	zinc ion binding			ovary(3)	3						GGGAAATGTAGATTCCGTGCT	0.373		NA											14	16					1.15e-07	1.36e-07	1	0
PCDH11X	27328	broad.mit.edu	37	X	91134064	91134064	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:91134064C>A	uc004efk.1	+	2	3670	c.2825C>A	c.(2824-2826)GCC>GAC	p.A942D	PCDH11X_uc004efl.1_Missense_Mutation_p.A942D|PCDH11X_uc004efo.1_Missense_Mutation_p.A942D|PCDH11X_uc010nmv.1_Missense_Mutation_p.A942D|PCDH11X_uc004efm.1_Missense_Mutation_p.A942D|PCDH11X_uc004efn.1_Missense_Mutation_p.A942D|PCDH11X_uc004efh.1_Missense_Mutation_p.A942D|PCDH11X_uc004efj.1_Missense_Mutation_p.A942D	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	942	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TACAAATCTGCCTCTCCACAG	0.478		NA											71	87					1.63e-36	2.13e-36	1	0
IGSF1	3547	broad.mit.edu	37	X	130416470	130416470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:130416470C>T	uc004ewd.2	-	7	1432	c.1194G>A	c.(1192-1194)TGG>TGA	p.W398*	IGSF1_uc004ewe.3_Nonsense_Mutation_p.W387*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.W378*	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	398	Ig-like C2-type 4.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TGGAGGTCTTCCAGGTGAGAA	0.408		NA											41	40					0	0	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421766	134421766	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:134421766T>A	uc004eyp.2	-	7	3491	c.836A>T	c.(835-837)AAA>ATA	p.K279I	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.K58I|ZNF75D_uc004eyo.2_Missense_Mutation_p.K184I	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	279	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGTGTCATTTTTTAGCTTTAA	0.348		NA											46	44					0	0	0	0
CDR1	1038	broad.mit.edu	37	X	139866496	139866496	+	Silent	SNP	G	G	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chrX:139866496G>A	uc004fbg.1	-	1	228	c.36C>T	c.(34-36)GAC>GAT	p.D12D	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	12	23 X 6 AA approximate repeats.|2.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACAAAGGTACGTCTTCCAGAA	0.418		NA											57	51					0	0	0	0
FGF23	8074	broad.mit.edu	37	12	4479556	4479557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr12:4479556_4479557insA	uc001qmq.1	-	3	854_855	c.708_709insT	c.(706-711)GCTGGGfs	p.A236fs		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	236_237					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|breast(1)|skin(1)	4			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CCCGTTCCCCCAGCGTGCGTGT	0.649		NA											31	128	---	---	---	---	NA	NA	NA	NA
CCL8	6355	broad.mit.edu	37	17	32647835	32647835	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:32647835delG	uc002hib.2	+	3	664	c.209delG	c.(208-210)CGGfs	p.R70fs		NM_005623	NP_005614	P80075	CCL8_HUMAN	small inducible cytokine A8 precursor	70					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)				AAGACCAAACGGGGCAAGGAG	0.502		NA											7	71	---	---	---	---	NA	NA	NA	NA
ASB16	92591	broad.mit.edu	37	17	42254108	42254109	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr17:42254108_42254109delGC	uc002ifl.1	+	3	656_657	c.572_573delGC	c.(571-573)TGCfs	p.C191fs	ASB16_uc002ifm.1_RNA|C17orf65_uc002ifn.2_Frame_Shift_Del_p.R171fs	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box-containing protein	191	ANK 4.				intracellular signal transduction		protein binding			kidney(2)	2		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTCCCCAGGTGCGCCAAGTTGC	0.639		NA											48	146	---	---	---	---	NA	NA	NA	NA
FPR1	2357	broad.mit.edu	37	19	52249531	52249531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr19:52249531delG	uc002pxq.2	-	2	812	c.717delC	c.(715-717)CCCfs	p.P239fs		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	239	Cytoplasmic (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGACCCGTAAGGGACGACTGG	0.512		NA											31	85	---	---	---	---	NA	NA	NA	NA
ROCK2	9475	broad.mit.edu	37	2	11332363	11332363	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr2:11332363delA	uc002rbd.1	-	32	4523	c.4074delT	c.(4072-4074)TTTfs	p.F1358fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	1358					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATGATCGGGCAAAAGGGTCTG	0.433		NA											7	406	---	---	---	---	NA	NA	NA	NA
PARP14	54625	broad.mit.edu	37	3	122437687	122437688	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr3:122437687_122437688insA	uc003efq.3	+	14	4748_4749	c.4689_4690insA	c.(4687-4692)AAGAAAfs	p.K1563fs	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Frame_Shift_Ins_p.K1280fs|PARP14_uc003efs.1_Frame_Shift_Ins_p.K1280fs	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1563_1564	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		GGAGAGAAAAGAAAAAAACAGT	0.366		NA											27	164	---	---	---	---	NA	NA	NA	NA
IRX1	79192	broad.mit.edu	37	5	3600720	3600721	+	Splice_Site	INS	-	-	AG			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr5:3600720_3600721insAG	uc003jde.2	+	3	1365	c.1313_splice	c.e3-2	p.E438_splice		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CGATCTCTCGCAGAGAGAGACC	0.614		NA											24	126	---	---	---	---	NA	NA	NA	NA
PRKDC	5591	broad.mit.edu	37	8	48761806	48761807	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-4739-01A-02D-1512-08	TCGA-CN-4739-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7d6cc6ef-6bb0-44ab-bac1-c8f7198d1d8a	d7ca9d1a-4318-4e16-ab80-1c206f19e33c	g.chr8:48761806_48761807delAG	uc003xqi.2	-	55	7245_7246	c.7188_7189delCT	c.(7186-7191)CTCTGTfs	p.L2396fs	PRKDC_uc003xqj.2_Frame_Shift_Del_p.L2396fs|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2396_2397					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCTCCAGACAGAGTGTTTTCA	0.495		NA						NHEJ					7	256	---	---	---	---	NA	NA	NA	NA