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
CAMTA1	23261	broad.mit.edu	37	1	7724491	7724491	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:7724491G>A	uc001aoi.2	+	9	2091	c.1884G>A	c.(1882-1884)GAG>GAA	p.E628E		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCCCCGTCGAGCAGAACACCC	0.652		NA											4	219					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103444279	103444279	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:103444279G>A	uc001dul.2	-	35	3057	c.2739C>T	c.(2737-2739)GGC>GGT	p.G913G	COL11A1_uc001duk.2_Silent_p.G109G|COL11A1_uc001dum.2_Silent_p.G925G|COL11A1_uc001dun.2_Silent_p.G874G|COL11A1_uc009weh.2_Silent_p.G797G	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	913	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CACCTGGAGGGCCAGGAGGGC	0.383		NA											24	158					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152190959	152190959	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:152190959C>G	uc001ezt.1	-	3	3222	c.3146G>C	c.(3145-3147)GGC>GCC	p.G1049A		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1049	12				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTAAGCCAGAAGAGTG	0.562		NA											50	223					0	0	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596179	161596179	+	Silent	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:161596179G>C	uc009wul.2	-	4	607	c.333C>G	c.(331-333)CTC>CTG	p.L111L		NM_000570	NP_000561	O75015	FCG3B_HUMAN	low affinity immunoglobulin gamma Fc region	111					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGGGGCCTGGAGCAACAGCC	0.562		NA											4	27					0	0	0	0
GLRX2	51022	broad.mit.edu	37	1	193070317	193070317	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:193070317G>A	uc001gsz.1	-	2	181	c.137C>T	c.(136-138)TCA>TTA	p.S46L	GLRX2_uc001gta.1_Missense_Mutation_p.S47L	NM_197962	NP_932066	Q9NS18	GLRX2_HUMAN	glutaredoxin 2 isoform 2	46					apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity				0					Glutathione(DB00143)	CAAAGATGATGATGTATTGCT	0.343		NA											15	47					0	0	0	0
WNT9A	7483	broad.mit.edu	37	1	228111988	228111988	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:228111988C>T	uc001hri.2	-	3	554	c.466G>A	c.(466-468)GAC>AAC	p.D156N		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	156					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)				TTCTCCAGGTCGGGTGCCTCA	0.632		NA											29	89					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237670089	237670089	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:237670089T>C	uc001hyl.1	+	23	2813	c.2693T>C	c.(2692-2694)ATT>ACT	p.I898T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	898	Cytoplasmic (By similarity).|1.|4 X approximate repeats.				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)			ATGAATAAAATTGAGCTTGGC	0.333		NA											7	34					0	0	0	0
ZNF496	84838	broad.mit.edu	37	1	247473644	247473644	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:247473644C>T	uc001ico.2	-	6	1231	c.766G>A	c.(766-768)GGG>AGG	p.G256R	ZNF496_uc009xgv.2_Missense_Mutation_p.G292R|ZNF496_uc001icp.2_Missense_Mutation_p.G256R|ZNF496_uc001icq.1_Missense_Mutation_p.G31R|ZNF496_uc010pyv.1_Missense_Mutation_p.G256R	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	256	KRAB.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ATTGAGACCCCGTAATCCTCC	0.493		NA											15	49					0	0	0	0
GTPBP4	23560	broad.mit.edu	37	10	1046661	1046661	+	Silent	SNP	G	G	A	rs138136568		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:1046661G>A	uc001ift.2	+	7	770	c.699G>A	c.(697-699)AGG>AGA	p.R233R	GTPBP4_uc010qac.1_Silent_p.R24R|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Silent_p.R117R|GTPBP4_uc010qae.1_Silent_p.R186R	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	233					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TGGAGGATAGGAACACCATCG	0.567		NA											7	24					0	0	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048519	22048519	+	Silent	SNP	C	C	T	rs148336959		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:22048519C>T	uc001irc.2	-	11	1463	c.1176G>A	c.(1174-1176)TCG>TCA	p.S392S	DNAJC1_uc001ird.2_Silent_p.S278S	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	392	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCTGAACTGTCGATTTGAGTT	0.562		NA											14	30					0	0	0	0
BMS1	9790	broad.mit.edu	37	10	43318651	43318651	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:43318651A>G	uc001jaj.2	+	20	3576	c.3218A>G	c.(3217-3219)AAA>AGA	p.K1073R		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1073					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						CAGATCAAGAAAGCACTCCGA	0.498		NA											3	88					0	0	0	0
ZNF365	22891	broad.mit.edu	37	10	64416233	64416233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:64416233C>T	uc001jmd.1	+	5	803	c.469C>T	c.(469-471)CAG>TAG	p.Q157*	ZNF365_uc001jmc.2_Nonsense_Mutation_p.Q403*|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_RNA	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	157										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					cttaggactccaggactttga	0.02		NA											9	28					0	0	0	0
GOT1	2805	broad.mit.edu	37	10	101165514	101165514	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:101165514T>G	uc001kpr.2	-	5	849	c.641A>C	c.(640-642)AAG>ACG	p.K214T	GOT1_uc009xwh.2_RNA|GOT1_uc001kpq.1_5'UTR	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	214					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGCAGTTACCTTCATGACAGA	0.353		NA											5	56					0	0	0	0
BLOC1S2	282991	broad.mit.edu	37	10	102045960	102045960	+	Silent	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:102045960G>C	uc001kqw.1	-	2	89	c.66C>G	c.(64-66)GCC>GCG	p.A22A	BLOC1S2_uc001kqv.1_5'UTR	NM_173809	NP_776170	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosome-related organelles	22					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		CTGTCTCCACGGCGGCATCGT	0.572		NA											8	39					0	0	0	0
LRDD	55367	broad.mit.edu	37	11	803327	803327	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:803327G>A	uc001lro.1	-	3	698	c.556C>T	c.(556-558)CTG>TTG	p.L186L	LRDD_uc009yck.1_5'Flank|LRDD_uc001lrk.1_Silent_p.L186L|LRDD_uc001lrl.1_Silent_p.L40L|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_Silent_p.L40L|LRDD_uc001lrp.1_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	186	LRR 3.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGGGGGCAGCGTCTGCAGG	0.642		NA											20	48					0	0	0	0
TRIM5	85363	broad.mit.edu	37	11	5699528	5699528	+	Missense_Mutation	SNP	G	G	C	rs140632799		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:5699528G>C	uc001mbm.1	-	4	907	c.650C>G	c.(649-651)TCT>TGT	p.S217C	TRIM5_uc001mbq.1_Missense_Mutation_p.S217C|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.S217C|TRIM5_uc001mbo.2_Missense_Mutation_p.S217C|TRIM5_uc001mbp.2_Missense_Mutation_p.S217C	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	217	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTCAGTTTCAGAGTTCGTAAG	0.512		NA											19	79					0	0	0	0
OLFML1	283298	broad.mit.edu	37	11	7530749	7530749	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:7530749G>C	uc001mfi.2	+	3	891	c.539G>C	c.(538-540)GGA>GCA	p.G180A	OLFML1_uc010raz.1_Missense_Mutation_p.G44A|OLFML1_uc010rba.1_Missense_Mutation_p.G180A	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1 precursor	180	Olfactomedin-like.					extracellular region				ovary(2)	2				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTATTAATTGGATCCAGAAAC	0.423		NA											9	58					0	0	0	0
SCUBE2	57758	broad.mit.edu	37	11	9096045	9096045	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:9096045C>T	uc001mhh.1	-	4	580	c.500G>A	c.(499-501)TGC>TAC	p.C167Y	SCUBE2_uc001mhi.1_Missense_Mutation_p.C167Y|SCUBE2_uc001mhj.1_Missense_Mutation_p.C167Y	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	167	EGF-like 3; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCGGTGAATGCAGGTGTGCTG	0.572		NA											4	109					0	0	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195018	18195018	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:18195018A>G	uc001mnv.1	+	1	635	c.215A>G	c.(214-216)GAC>GGC	p.D72G		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	72	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						GCCGCAGCAGACTTCCTCTTC	0.532		NA											15	76					0	0	0	0
C11orf66	220004	broad.mit.edu	37	11	61249785	61249785	+	Missense_Mutation	SNP	C	C	T	rs34626255		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:61249785C>T	uc001nru.1	+	3	237	c.112C>T	c.(112-114)CGG>TGG	p.R38W	C11orf66_uc009ynq.1_Missense_Mutation_p.R38W	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	38										ovary(1)	1						TCTGGCAGGTCGGGAGGATTT	0.612		NA									OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	66					0	0	0	0
RSF1	51773	broad.mit.edu	37	11	77378520	77378520	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:77378520C>T	uc001oyn.2	-	16	3888	c.3768G>A	c.(3766-3768)AAG>AAA	p.K1256K	RSF1_uc001oym.2_Silent_p.K1004K	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1256					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTTCAGAGTTCTTGGACAAAT	0.448		NA											7	131					0	0	0	0
USP35	57558	broad.mit.edu	37	11	77911847	77911847	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:77911847C>T	uc009yva.1	+	6	1436	c.1190C>T	c.(1189-1191)GCC>GTC	p.A397V	USP35_uc001oze.2_Missense_Mutation_p.A153V|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Missense_Mutation_p.P7S|USP35_uc001ozf.2_Missense_Mutation_p.A128V	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	397					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GTCATGGAGGCCATCAAGGTG	0.622		NA											9	62					0	0	0	0
USP35	57558	broad.mit.edu	37	11	77921356	77921356	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:77921356C>T	uc009yva.1	+	10	2701	c.2455C>T	c.(2455-2457)CGG>TGG	p.R819W	USP35_uc001oze.2_Missense_Mutation_p.R575W|USP35_uc001ozc.2_Missense_Mutation_p.R387W|USP35_uc010rsp.1_Missense_Mutation_p.R251W|USP35_uc001ozd.2_Missense_Mutation_p.R430W|USP35_uc001ozf.2_Missense_Mutation_p.R550W	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	819					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCGCACCATGCGGCGCCGCAA	0.647		NA											4	136					0	0	0	0
FAT3	120114	broad.mit.edu	37	11	92600371	92600371	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:92600371G>A	uc001pdj.3	+	21	12140	c.12123G>A	c.(12121-12123)TCG>TCA	p.S4041S	FAT3_uc001pdi.3_Silent_p.S481S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4041	EGF-like 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCTGCCATCGGGGGGTGAGT	0.667		NA								TCGA Ovarian(4;0.039)			3	14					0	0	0	0
HEPHL1	341208	broad.mit.edu	37	11	93803697	93803697	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:93803697C>T	uc001pep.2	+	6	1378	c.1221C>T	c.(1219-1221)AAC>AAT	p.N407N	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	407	Plastocyanin-like 3.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTCCTCTAAACGCCTCTGGCA	0.433		NA											5	31					0	0	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111630634	111630634	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:111630634C>G	uc001plx.1	-	5	665	c.581G>C	c.(580-582)CGA>CCA	p.R194P	PPP2R1B_uc001plw.1_Missense_Mutation_p.R194P|PPP2R1B_uc010rwi.1_Missense_Mutation_p.R130P|PPP2R1B_uc010rwj.1_Missense_Mutation_p.R33P|PPP2R1B_uc010rwk.1_Missense_Mutation_p.R194P|PPP2R1B_uc010rwl.1_Intron	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	194	HEAT 5.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGCAGCACGTCGTACCATTGG	0.413		NA											8	58					0	0	0	0
RBM7	10179	broad.mit.edu	37	11	114271421	114271421	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:114271421C>G	uc001pov.2	+	1	38	c.28C>G	c.(28-30)CGC>GGC	p.R10G	C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.3_5'Flank|RBM7_uc001pow.2_Missense_Mutation_p.R10G|RBM7_uc001pox.2_Translation_Start_Site	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	10	RRM.				meiosis		nucleotide binding|protein binding|RNA binding			ovary(2)	2		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGAAGCGGATCGCACTCTCTT	0.627		NA											29	119					0	0	0	0
ERBB3	2065	broad.mit.edu	37	12	56494868	56494868	+	Silent	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr12:56494868T>C	uc001sjh.2	+	27	3418	c.3225T>C	c.(3223-3225)AGT>AGC	p.S1075S	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Silent_p.S432S|ERBB3_uc010sqc.1_Silent_p.S1016S|ERBB3_uc009zok.2_Silent_p.S340S|ERBB3_uc001sjk.2_Silent_p.S316S|ERBB3_uc001sjl.2_Silent_p.S195S	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1075	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGGGAGCAGTGAACGGTGCC	0.483		NA											6	34					0	0	0	0
DACH1	1602	broad.mit.edu	37	13	72063173	72063173	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr13:72063173G>A	uc010thn.1	-	8	2101	c.1678C>T	c.(1678-1680)CCT>TCT	p.P560S	DACH1_uc010tho.1_Missense_Mutation_p.P412S|DACH1_uc010thp.1_Missense_Mutation_p.P358S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	612					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGTCCATCAGGAAACAGAAAA	0.463		NA											23	280					0	0	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795884	21795884	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:21795884C>A	uc001wag.2	+	17	2813	c.2813C>A	c.(2812-2814)CCA>CAA	p.P938Q	RPGRIP1_uc001wah.2_Missense_Mutation_p.P580Q|RPGRIP1_uc001wai.2_Missense_Mutation_p.P264Q|RPGRIP1_uc001wak.2_Missense_Mutation_p.P413Q|RPGRIP1_uc010aim.2_Missense_Mutation_p.P321Q|RPGRIP1_uc001wal.2_Missense_Mutation_p.P297Q|RPGRIP1_uc001wam.2_Missense_Mutation_p.P255Q	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	938					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTCCTGAAACCAGAAGCTCAG	0.473		NA											10	39					7.48e-07	8.46e-07	1	0
SOS2	6655	broad.mit.edu	37	14	50585274	50585274	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:50585274G>C	uc001wxs.3	-	23	3885	c.3787C>G	c.(3787-3789)CCT>GCT	p.P1263A	SOS2_uc010ans.2_Missense_Mutation_p.P98A|SOS2_uc010tql.1_Missense_Mutation_p.P1230A|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1263					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGTGTGCTAGGAGGAGTGCTT	0.517		NA											11	45					0	0	0	0
SOS2	6655	broad.mit.edu	37	14	50626720	50626720	+	Silent	SNP	G	G	A	rs8010578		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:50626720G>A	uc001wxs.3	-	10	1379	c.1281C>T	c.(1279-1281)ATC>ATT	p.I427I	SOS2_uc010tql.1_Silent_p.I394I|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Silent_p.I115I	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	427					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCCATCCATCGATATTTTTCT	0.358		NA											32	57					0	0	0	0
C14orf129	51527	broad.mit.edu	37	14	96851943	96851943	+	Silent	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:96851943C>G	uc001yfj.3	+	4	487	c.342C>G	c.(340-342)CTC>CTG	p.L114L	C14orf129_uc001yfl.2_Silent_p.L114L	NM_016472	NP_057556	Q9P0R6	GSKIP_HUMAN	chromosome 14 open reading frame 129	114						cytoplasm	protein binding				0		Melanoma(154;0.226)		Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205)		TGGATACACTCAGCCCCGCCT	0.448		NA											29	56					0	0	0	0
DUOXA1	90527	broad.mit.edu	37	15	45410265	45410265	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr15:45410265G>A	uc001zup.2	-	10	1394	c.994C>T	c.(994-996)CGC>TGC	p.R332C	DUOXA2_uc001zuo.2_3'UTR|DUOXA2_uc010beb.2_RNA|DUOXA1_uc010uem.1_Missense_Mutation_p.R287C|DUOXA1_uc010bec.2_Missense_Mutation_p.R332C	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Numb-interacting protein	Error:Variant_position_missing_in_Q1HG43_after_alignment					protein transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CTCCTGGGGCGATCTGTAAAT	0.552		NA									OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	0	0
CP110	9738	broad.mit.edu	37	16	19553369	19553369	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr16:19553369C>G	uc002dgl.3	+	6	2457	c.2210C>G	c.(2209-2211)TCA>TGA	p.S737*	CP110_uc002dgk.3_Nonsense_Mutation_p.S737*			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	737					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						CTCCATACTTCAAATTCAAAT	0.338		NA											23	59					0	0	0	0
HEATR3	55027	broad.mit.edu	37	16	50138923	50138923	+	Missense_Mutation	SNP	G	G	A	rs137897639		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr16:50138923G>A	uc002efw.2	+	15	2156	c.1994G>A	c.(1993-1995)CGA>CAA	p.R665Q	HEATR3_uc002efx.2_Missense_Mutation_p.R579Q|uc002efy.2_5'Flank	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	665							binding			ovary(1)|skin(1)	2						ATGAATTTGCGAAGATTTATT	0.333		NA											37	64					0	0	0	0
LRRC50	123872	broad.mit.edu	37	16	84188262	84188262	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr16:84188262G>A	uc002fhl.3	+	4	614	c.433G>A	c.(433-435)GAA>AAA	p.E145K	LRRC50_uc010chi.1_RNA	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	145	LRR 2.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						ACAGAAAATCGAAAACCTGGA	0.473		NA							Kartagener_syndrome				11	44					0	0	0	0
ZBTB4	57659	broad.mit.edu	37	17	7370078	7370078	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:7370078C>T	uc002ghc.3	-	3	293	c.43G>A	c.(43-45)GCC>ACC	p.A15T	ZBTB4_uc002ghd.3_Missense_Mutation_p.A15T	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CGCAGGACGGCGGGGGCATGG	0.657		NA											5	9					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7574021	7574021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:7574021C>A	uc002gim.2	-	10	1200	c.1006G>T	c.(1006-1008)GAG>TAG	p.E336*	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_Nonsense_Mutation_p.E204*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.E336*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	336	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.				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.0?(7)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(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)		TCGAAGCGCTCACGCCCACGG	0.438		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)			5	35					0.00198382	0.00213027	1	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:7577548C>T	uc002gim.2	-	7	927	c.733G>A	c.(733-735)GGC>AGC	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	245	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	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)			29	56					0	0	0	0
AURKB	9212	broad.mit.edu	37	17	8110609	8110609	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:8110609G>A	uc002gkm.2	-	5	344	c.283C>T	c.(283-285)CGG>TGG	p.R95W	AURKB_uc010cnu.2_5'UTR|AURKB_uc002gkn.2_Missense_Mutation_p.R96W|AURKB_uc010vuu.1_Missense_Mutation_p.R54W|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	95	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(1)|central_nervous_system(1)	4						TTCTTCTCCCGAGCCAAGTAC	0.517		NA											13	30					0	0	0	0
MYH13	8735	broad.mit.edu	37	17	10248886	10248886	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:10248886C>T	uc002gmk.1	-	14	1401	c.1311G>A	c.(1309-1311)ATG>ATA	p.M437I	MYH13_uc010vvf.1_Missense_Mutation_p.M112I	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	437	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TCCACAGGAACATCTTCTCGT	0.522		NA											33	115					0	0	0	0
MYH4	4622	broad.mit.edu	37	17	10364306	10364306	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:10364306G>A	uc002gmn.2	-	12	1185	c.1074C>T	c.(1072-1074)GCC>GCT	p.A358A	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	358	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						AATGCATCACGGCTCCAGTGA	0.483		NA											40	123					0	0	0	0
FBXW10	10517	broad.mit.edu	37	17	18659468	18659468	+	Splice_Site	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:18659468G>A	uc002guk.2	+	6	1464	c.1232_splice	c.e6+1	p.T411_splice	FBXW10_uc002guj.2_Splice_Site_p.T411_splice|FBXW10_uc002gul.2_Splice_Site_p.T440_splice|FBXW10_uc010cqh.1_Splice_Site_p.T411_splice	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10											ovary(1)	1						TCTCTGACACGTAGGTACTGG	0.493		NA											9	29					0	0	0	0
STAT3	6774	broad.mit.edu	37	17	40485969	40485969	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:40485969A>G	uc002hzl.1	-	9	1136	c.896T>C	c.(895-897)GTA>GCA	p.V299A	STAT3_uc002hzk.1_Missense_Mutation_p.V299A|STAT3_uc002hzm.1_Missense_Mutation_p.V299A|STAT3_uc010wgh.1_Missense_Mutation_p.V201A|STAT3_uc002hzn.1_Missense_Mutation_p.V299A	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	299					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCGGTGCTGTACAATGGGGTC	0.428		NA							Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome				18	53					0	0	0	0
ITGA2B	3674	broad.mit.edu	37	17	42452040	42452040	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:42452040C>A	uc002igt.1	-	28	2962	c.2930G>T	c.(2929-2931)CGA>CTA	p.R977L	ITGA2B_uc002igu.1_3'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	977	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGCTTCCCCTCGGGGCAGGCT	0.632		NA											12	43					2.62e-11	3e-11	1	0
CACNA1G	8913	broad.mit.edu	37	17	48685319	48685319	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:48685319G>A	uc002irk.1	+	25	5016	c.4644G>A	c.(4642-4644)GAG>GAA	p.E1548E	CACNA1G_uc002irj.1_Silent_p.E1525E|CACNA1G_uc002irl.1_Silent_p.E1525E|CACNA1G_uc002irm.1_Silent_p.E1525E|CACNA1G_uc002irn.1_Silent_p.E1525E|CACNA1G_uc002iro.1_Silent_p.E1525E|CACNA1G_uc002irp.1_Silent_p.E1548E|CACNA1G_uc002irq.1_Silent_p.E1525E|CACNA1G_uc002irr.1_Silent_p.E1548E|CACNA1G_uc002irs.1_Silent_p.E1548E|CACNA1G_uc002irt.1_Silent_p.E1548E|CACNA1G_uc002irv.1_Silent_p.E1548E|CACNA1G_uc002irw.1_Silent_p.E1525E|CACNA1G_uc002iru.1_Silent_p.E1525E|CACNA1G_uc002irx.1_Silent_p.E1461E|CACNA1G_uc002iry.1_Silent_p.E1461E|CACNA1G_uc002irz.1_Silent_p.E1461E|CACNA1G_uc002isa.1_Silent_p.E1427E|CACNA1G_uc002isb.1_Silent_p.E1461E|CACNA1G_uc002isc.1_Silent_p.E1461E|CACNA1G_uc002isd.1_Silent_p.E1461E|CACNA1G_uc002ise.1_Silent_p.E1427E|CACNA1G_uc002isf.1_Silent_p.E1461E|CACNA1G_uc002isg.1_Silent_p.E1427E|CACNA1G_uc002ish.1_Silent_p.E1427E|CACNA1G_uc002isi.1_Silent_p.E1404E	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1548	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCACCAGGAGGAAGAGGAGG	0.547		NA											8	32					0	0	0	0
KIF2B	84643	broad.mit.edu	37	17	51902045	51902045	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:51902045C>A	uc002iua.2	+	1	1807	c.1651C>A	c.(1651-1653)CAT>AAT	p.H551N	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	551					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						AAGGCCCTACCATCGTGGCCA	0.398		NA											17	38					5.39e-06	5.99e-06	1	0
C17orf71	55181	broad.mit.edu	37	17	57288727	57288727	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:57288727C>T	uc002ixi.2	+	1	1357	c.1315C>T	c.(1315-1317)CAT>TAT	p.H439Y		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	439					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ACAGCCTTCCCATTTTGAACT	0.478		NA											16	38					0	0	0	0
ITGB4	3691	broad.mit.edu	37	17	73748588	73748588	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:73748588C>T	uc002jpg.2	+	32	4225	c.4038C>T	c.(4036-4038)TTC>TTT	p.F1346F	ITGB4_uc002jph.2_Silent_p.F1346F|ITGB4_uc002jpi.3_Silent_p.F1346F|ITGB4_uc002jpj.2_Silent_p.F1346F|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1346	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGACAGCTTCCTTATGTACA	0.627		NA											15	79					0	0	0	0
WDR7	23335	broad.mit.edu	37	18	54424102	54424102	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr18:54424102G>C	uc002lgk.1	+	15	2489	c.2278G>C	c.(2278-2280)GAT>CAT	p.D760H	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.D760H	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	760										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		ACACCTCCTTGATGATGAAGA	0.423		NA											7	25					0	0	0	0
CDH19	28513	broad.mit.edu	37	18	64176256	64176256	+	Missense_Mutation	SNP	G	G	A	rs150398178	byFrequency	TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr18:64176256G>A	uc002lkc.1	-	11	1942	c.1804C>T	c.(1804-1806)CTC>TTC	p.L602F	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	602	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				ATGCAAATGAGAATAGCAATG	0.418		NA											17	58					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9060890	9060890	+	Silent	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:9060890A>G	uc002mkp.2	-	3	26760	c.26556T>C	c.(26554-26556)CCT>CCC	p.P8852P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8854	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						GGGAAGATGGAGGGCTAGTTT	0.522		NA											26	113					0	0	0	0
TSSK6	83983	broad.mit.edu	37	19	19625929	19625929	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:19625929C>T	uc002nmr.2	-	1	541	c.308G>A	c.(307-309)CGC>CAC	p.R103H	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	103	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						GCGCCCGTTGCGCTGCACGGC	0.652		NA											17	53					0	0	0	0
WDR88	126248	broad.mit.edu	37	19	33647373	33647373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:33647373C>T	uc002nui.2	+	7	1000	c.922C>T	c.(922-924)CGA>TGA	p.R308*		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	308	WD 5.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					AGGGGAGTTTCGAAACTGTGG	0.463		NA											24	68					0	0	0	0
HNRNPL	3191	broad.mit.edu	37	19	39327374	39327374	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:39327374C>A	uc010xul.1	-	13	1769	c.1758G>T	c.(1756-1758)CAG>CAT	p.Q586H	HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Intron|HNRNPL_uc002ojo.1_3'UTR|HNRNPL_uc002ojk.2_Missense_Mutation_p.Q242H|HNRNPL_uc002ojl.2_Missense_Mutation_p.Q242H|HNRNPL_uc010xum.1_Missense_Mutation_p.Q453H	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	586					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGGAGGCGTGCTGAGCAGTGG	0.453		NA											4	162					0.00909568	0.00963781	1	0
AP2A1	160	broad.mit.edu	37	19	50309485	50309485	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:50309485G>A	uc002ppn.2	+	23	3042	c.2831G>A	c.(2830-2832)CGG>CAG	p.R944Q	AP2A1_uc002ppo.2_Missense_Mutation_p.R922Q|AP2A1_uc010enk.2_Missense_Mutation_p.R75Q	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	944				ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214).	axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGTCTGCTTCGGCTGGAGCCC	0.637		NA											6	11					0	0	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034681	52034681	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:52034681G>A	uc002pwy.2	-	2	322	c.160C>T	c.(160-162)CCC>TCC	p.P54S	SIGLEC6_uc002pwz.2_Missense_Mutation_p.P54S|SIGLEC6_uc002pxa.2_Missense_Mutation_p.P54S|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Missense_Mutation_p.P43S|SIGLEC6_uc010eoz.1_Missense_Mutation_p.P43S|SIGLEC6_uc010epb.1_Intron|SIGLEC6_uc010epa.1_Missense_Mutation_p.P43S	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	54	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGTAGTGGGCAATCTGCAG	0.597		NA											13	54					0	0	0	0
ZNF761	388561	broad.mit.edu	37	19	53959369	53959369	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:53959369C>T	uc010eqp.2	+	7	2066	c.1608C>T	c.(1606-1608)TCC>TCT	p.S536S	ZNF761_uc010ydy.1_Silent_p.S482S|ZNF761_uc002qbt.1_Silent_p.S482S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	536	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		GGAAGTCATCCCTTACCTGCC	0.443		NA											21	82					0	0	0	0
CACNG8	59283	broad.mit.edu	37	19	54466508	54466508	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:54466508G>A	uc002qcs.1	+	1	215	c.109G>A	c.(109-111)GCC>ACC	p.A37T		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	38	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CATGACCATCGCCATCAGCAC	0.697		NA											6	16					0	0	0	0
LILRA1	11024	broad.mit.edu	37	19	55106777	55106777	+	Missense_Mutation	SNP	C	C	T	rs141328341		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:55106777C>T	uc002qgh.1	+	5	753	c.571C>T	c.(571-573)CGC>TGC	p.R191C	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.R191C	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	191	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		GAGCCCGAGTCGCAGGTGGTC	0.567		NA											60	159					0	0	0	0
NLRP7	199713	broad.mit.edu	37	19	55450945	55450945	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:55450945C>T	uc002qih.3	-	4	1318	c.1242G>A	c.(1240-1242)ACG>ACA	p.T414T	NLRP7_uc002qig.3_Silent_p.T414T|NLRP7_uc002qii.3_Silent_p.T414T|NLRP7_uc010esk.2_Silent_p.T414T|NLRP7_uc010esl.2_Silent_p.T442T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	414	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		GGAGGCTCAGCGTCCGCAGCG	0.711		NA											5	31					0	0	0	0
TTC27	55622	broad.mit.edu	37	2	33007733	33007733	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:33007733G>A	uc002rom.2	+	15	2051	c.1820G>A	c.(1819-1821)CGA>CAA	p.R607Q	TTC27_uc010ymx.1_Missense_Mutation_p.R557Q|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	607	TPR 5.|HAT 2.						protein binding			central_nervous_system(1)	1						TCCTATATCCGATTAAAACAA	0.294		NA											14	43					0	0	0	0
THADA	63892	broad.mit.edu	37	2	43804258	43804258	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:43804258T>G	uc002rsw.3	-	10	1292	c.940A>C	c.(940-942)ACA>CCA	p.T314P	THADA_uc002rsx.3_Missense_Mutation_p.T314P|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.2_Missense_Mutation_p.T24P|THADA_uc002rta.2_Missense_Mutation_p.T24P|THADA_uc002rtb.1_Missense_Mutation_p.T314P|THADA_uc002rtc.3_Missense_Mutation_p.T314P|THADA_uc002rtd.2_Missense_Mutation_p.T314P	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	314							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATGGCAAGTGTCCCCTGACAG	0.542		NA									OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	13					0	0	0	0
CCDC138	165055	broad.mit.edu	37	2	109408186	109408186	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:109408186G>A	uc002ten.1	+	4	382	c.322G>A	c.(322-324)GAG>AAG	p.E108K	CCDC138_uc002teo.1_Missense_Mutation_p.E108K|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	108											0						AACAGAAGAAGAGTTAATTGA	0.269		NA											36	139					0	0	0	0
GLI2	2736	broad.mit.edu	37	2	121746950	121746950	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:121746950G>A	uc010flp.2	+	13	3490	c.3460G>A	c.(3460-3462)GTA>ATA	p.V1154I	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.V826I|GLI2_uc002tmu.3_Missense_Mutation_p.V809I	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1154					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				CTCCGGCACCGTAGACGCCCT	0.622		NA											4	30					0	0	0	0
NEB	4703	broad.mit.edu	37	2	152543963	152543963	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:152543963G>C	uc010fnx.2	-	27	2798	c.2607C>G	c.(2605-2607)CAC>CAG	p.H869Q		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	869	Nebulin 20.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTCAAGGAGTGCAGCATCT	0.438		NA											43	155					0	0	0	0
CERKL	375298	broad.mit.edu	37	2	182423402	182423402	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:182423402G>A	uc002unx.2	-	6	890	c.789C>T	c.(787-789)AGC>AGT	p.S263S	CERKL_uc002uny.2_Silent_p.S237S|CERKL_uc010zfm.1_Silent_p.S219S|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Silent_p.S32S|CERKL_uc002uoe.2_Silent_p.S237S	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	263	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGCTACTTCGCTAGCAGATC	0.433		NA											15	28					0	0	0	0
DNAJC10	54431	broad.mit.edu	37	2	183616459	183616459	+	Nonsense_Mutation	SNP	C	C	T	rs75109237		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:183616459C>T	uc002uow.1	+	15	1796	c.1381C>T	c.(1381-1383)CAA>TAA	p.Q461*	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.Q415*|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	461	Thioredoxin 2.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCTTGGACCTCAAAATTTTCC	0.368		NA											40	165					0	0	0	0
IQCA1	79781	broad.mit.edu	37	2	237374156	237374156	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:237374156G>A	uc002vvz.1	-	6	1100	c.918C>T	c.(916-918)ATC>ATT	p.I306I	IQCA1_uc002vwb.2_Silent_p.I313I|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Silent_p.I306I	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	306							ATP binding			ovary(1)	1						ACCTGCATTCGATGAACCAAT	0.423		NA											11	30					0	0	0	0
DEFB124	245937	broad.mit.edu	37	20	30053437	30053437	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:30053437C>T	uc002wvz.1	-	2	88	c.88G>A	c.(88-90)GGT>AGT	p.G30S		NM_001037500	NP_001032589	Q8NES8	DB124_HUMAN	beta-defensin 124 precursor	30					defense response to bacterium	extracellular region					0	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCCCTTGACCCTTCCAGCAC	0.522		NA											39	141					0	0	0	0
SLC12A5	57468	broad.mit.edu	37	20	44680470	44680470	+	Missense_Mutation	SNP	C	C	T	rs149667115		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:44680470C>T	uc010zxl.1	+	18	2483	c.2407C>T	c.(2407-2409)CGC>TGC	p.R803C	SLC12A5_uc002xrb.2_Missense_Mutation_p.R780C	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	803					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCAACTGGCGCCAGAAGGA	0.622		NA											45	92					0	0	0	0
OGFR	11054	broad.mit.edu	37	20	61444556	61444556	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:61444556C>T	uc002ydj.2	+	7	1624	c.1589C>T	c.(1588-1590)GCA>GTA	p.A530V	OGFR_uc002ydk.2_Missense_Mutation_p.A513V|OGFR_uc002ydl.2_Missense_Mutation_p.A478V|uc011aam.1_Silent_p.L29L	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	530	1.|7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					GCAGGACCTGCAGGGGACGAG	0.701		NA											4	15					0	0	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338153	28338153	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr21:28338153G>A	uc002ymg.2	-	1	1287	c.558C>T	c.(556-558)TCC>TCT	p.S186S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	186					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GGATCCGTGCGGACCCATCCC	0.697		NA											5	19					0	0	0	0
SLC25A20	788	broad.mit.edu	37	3	48921543	48921543	+	Silent	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr3:48921543T>C	uc003cva.3	-	3	388	c.213A>G	c.(211-213)CTA>CTG	p.L71L	SLC25A20_uc011bbw.1_Silent_p.L21L|SLC25A20_uc010hkj.2_Intron	NM_000387	NP_000378	O43772	MCAT_HUMAN	carnitine/acylcarnitine translocase	71	Solcar 1.|Mitochondrial matrix (Potential).				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity				0				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TTCCCCGATATAGCCCCGTGA	0.498		NA											30	54					0	0	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107634	6107634	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:6107634G>A	uc003giu.3	-	3	466	c.190C>T	c.(190-192)CGG>TGG	p.R64W	JAKMIP1_uc010idb.1_Missense_Mutation_p.R64W|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R64W|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R64W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R64W	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	64	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GCCGTGTGCCGTCGCTGCTCC	0.622		NA											15	45					0	0	0	0
RBM47	54502	broad.mit.edu	37	4	40440734	40440734	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:40440734C>T	uc003gvc.2	-	4	887	c.177G>A	c.(175-177)CCG>CCA	p.P59P	RBM47_uc003gvd.2_Silent_p.P59P|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.P21P|RBM47_uc003gvg.1_Silent_p.P59P	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	59						nucleus	nucleotide binding|RNA binding			breast(3)	3						CCCAGCCGGGCGGTGGGCCGC	0.711		NA											3	11					0	0	0	0
GABRG1	2565	broad.mit.edu	37	4	46099293	46099293	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:46099293G>T	uc003gxb.2	-	2	330	c.178C>A	c.(178-180)CAT>AAT	p.H60N		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	60	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCTCCTTCATGAATTTTTGGG	0.368		NA											16	133					3.53e-06	3.96e-06	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73148992	73148992	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:73148992G>A	uc003hgk.1	-	22	3516	c.3479C>T	c.(3478-3480)TCA>TTA	p.S1160L		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1160					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGTGAAGCTGAACTGAGGTG	0.498		NA											8	145					0	0	0	0
FGA	2243	broad.mit.edu	37	4	155507529	155507529	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:155507529C>A	uc003iod.1	-	5	1110	c.1052G>T	c.(1051-1053)AGC>ATC	p.S351I	FGA_uc003ioe.1_Missense_Mutation_p.S351I|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	351	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGGTCTAGGGCTCCCAGGGTT	0.557		NA											35	59					1.84e-18	2.16e-18	1	0
FAT1	2195	broad.mit.edu	37	4	187542861	187542861	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:187542861G>A	uc003izf.2	-	10	5067	c.4879C>T	c.(4879-4881)CGA>TGA	p.R1627*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1627	Extracellular (Potential).|Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TGGTTACTTCGATCTAATTCT	0.368		NA								HNSCC(5;0.00058)			10	18					0	0	0	0
DAB2	1601	broad.mit.edu	37	5	39381673	39381673	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:39381673C>T	uc003jlx.2	-	11	1918	c.1387G>A	c.(1387-1389)GTC>ATC	p.V463I	DAB2_uc003jlw.2_Missense_Mutation_p.V442I	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	463					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTTCTGAGACGGGAGGAGCA	0.542		NA											46	132					0	0	0	0
PDE8B	8622	broad.mit.edu	37	5	76645253	76645253	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:76645253C>T	uc003kfa.2	+	8	931	c.886C>T	c.(886-888)CCA>TCA	p.P296S	PDE8B_uc003kfb.2_Missense_Mutation_p.P276S|PDE8B_uc003kfc.2_Missense_Mutation_p.P296S|PDE8B_uc003kfd.2_Intron|PDE8B_uc003kfe.2_Intron	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	296	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GTATGTCAACCCAGCCTTCGA	0.507		NA											37	23					0	0	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736077	140736077	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:140736077A>T	uc003ljq.1	+	1	1310	c.1310A>T	c.(1309-1311)CAT>CTT	p.H437L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.H437L	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	437	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAAACTCATATTTCACTG	0.468		NA											21	33					0	0	0	0
FOXI1	2299	broad.mit.edu	37	5	169535116	169535116	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:169535116G>A	uc003mai.3	+	2	683	c.638G>A	c.(637-639)CGC>CAC	p.R213H	FOXI1_uc003maj.3_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	213	Fork-head.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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 activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAATTTCCGCAGGAAAAGG	0.493		NA							Pendred_syndrome				19	34					0	0	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100329	27100329	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:27100329C>T	uc003niv.2	-	1	247	c.201G>A	c.(199-201)GTG>GTA	p.V67V	HIST1H2BJ_uc003niu.1_RNA|HIST1H2AG_uc003niw.2_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	histone cluster 1, H2bj	67					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						AAATGTCGTTCACAAACGAAT	0.562		NA											55	161					0	0	0	0
EFHC1	114327	broad.mit.edu	37	6	52334164	52334164	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:52334164G>A	uc003pap.3	+	7	1386	c.1171G>A	c.(1171-1173)GAA>AAA	p.E391K	EFHC1_uc011dwv.1_Missense_Mutation_p.E300K|EFHC1_uc011dww.1_Missense_Mutation_p.E372K	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	391						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					TGGACTAGTGGAAGATTCTGC	0.378		NA											25	90					0	0	0	0
DST	667	broad.mit.edu	37	6	56334934	56334934	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:56334934C>T	uc003pdf.2	-	90	16139	c.16111G>A	c.(16111-16113)GAA>AAA	p.E5371K	DST_uc003pcz.3_Missense_Mutation_p.E5193K|DST_uc011dxj.1_Missense_Mutation_p.E5222K|DST_uc011dxk.1_Missense_Mutation_p.E5233K|DST_uc003pcy.3_Missense_Mutation_p.E4867K|DST_uc003pcw.3_5'Flank|DST_uc003pcx.3_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7279	GAR.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTCATCTTCGATTTTGTCG	0.378		NA											9	35					0	0	0	0
STX1A	6804	broad.mit.edu	37	7	73117214	73117214	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:73117214G>A	uc003tyx.2	-	8	666	c.639C>T	c.(637-639)CAC>CAT	p.H213H	WBSCR22_uc003tyw.1_Intron|STX1A_uc003tyy.2_Silent_p.H213H|STX1A_uc010lbj.1_Silent_p.H213H	NM_004603	NP_004594	Q16623	STX1A_HUMAN	syntaxin 1A isoform 1	213	Cytoplasmic (Potential).|t-SNARE coiled-coil homology.				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGAACATGTCGTGTAGCTCAC	0.592		NA											23	48					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100684621	100684621	+	Silent	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:100684621C>A	uc003uxp.1	+	3	9977	c.9924C>A	c.(9922-9924)ACC>ACA	p.T3308T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3308	Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGCTGACACCAGCACACCTG	0.498		NA											164	408					1.33e-76	1.58e-76	1	0
MKRN1	23608	broad.mit.edu	37	7	140159671	140159671	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:140159671G>C	uc003vvt.2	-	3	605	c.380C>G	c.(379-381)TCC>TGC	p.S127C	MKRN1_uc003vvs.2_Missense_Mutation_p.S63C|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Missense_Mutation_p.S127C|MKRN1_uc003vvu.3_Missense_Mutation_p.S63C	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	127							ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)					AGCAGCAAGGGATGACTTTGT	0.378		NA											28	71					0	0	0	0
ASB10	136371	broad.mit.edu	37	7	150878272	150878272	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:150878272G>A	uc003wjm.1	-	3	1119	c.993C>T	c.(991-993)GAC>GAT	p.D331D	ASB10_uc003wjl.1_Silent_p.D331D|ASB10_uc003wjn.1_Silent_p.D271D	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	286	ANK 5.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCATCAGCGTCTGCTCCAG	0.672		NA											5	23					0	0	0	0
CSMD1	64478	broad.mit.edu	37	8	2876011	2876011	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:2876011T>A	uc011kwk.1	-	52	8410	c.8020A>T	c.(8020-8022)ACT>TCT	p.T2674S	CSMD1_uc011kwj.1_Missense_Mutation_p.T2003S|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2674	Extracellular (Potential).|Sushi 17.					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)		AGACATCGAGTTTCGCTGCCG	0.458		NA											109	88					0	0	0	0
DENND3	22898	broad.mit.edu	37	8	142146792	142146792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:142146792G>A	uc003yvy.2	+	2	325	c.47G>A	c.(46-48)TGG>TAG	p.W16*	DENND3_uc003yvw.1_Nonsense_Mutation_p.W29*|DENND3_uc003yvx.2_Nonsense_Mutation_p.W96*|DENND3_uc010mep.2_Nonsense_Mutation_p.W29*	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	16	UDENN.									ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGAGCAGTGGAAGGGCCTC	0.647		NA											3	30					0	0	0	0
ZNF707	286075	broad.mit.edu	37	8	144776477	144776477	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:144776477G>A	uc003yze.3	+	7	1208	c.893G>A	c.(892-894)CGG>CAG	p.R298Q	ZNF707_uc010mfh.2_Missense_Mutation_p.R298Q|ZNF707_uc010mfi.2_Missense_Mutation_p.R298Q|ZNF707_uc003yzf.3_Missense_Mutation_p.R298Q|ZNF707_uc003yzh.3_Missense_Mutation_p.R225Q|ZNF707_uc011lkq.1_RNA|BREA2_uc010mfj.1_5'Flank	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	298	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAAGCCTTCCGGACCAAGGAG	0.632		NA											5	24					0	0	0	0
SCRIB	23513	broad.mit.edu	37	8	144893098	144893098	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:144893098G>A	uc003yzp.1	-	11	1258	c.1251C>T	c.(1249-1251)CCC>CCT	p.P417P	SCRIB_uc003yzo.1_Silent_p.P417P	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	417	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGGCTGCTGGGGCAGCAAGT	0.667		NA											5	22					0	0	0	0
NANS	54187	broad.mit.edu	37	9	100843365	100843365	+	Splice_Site	SNP	G	G	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:100843365G>T	uc004ayb.2	+	6	1512	c.870_splice	c.e6+1	p.K290_splice	NANS_uc004ayc.2_Splice_Site_p.K290_splice|TRIM14_uc004ayd.2_Intron|NANS_uc004aye.1_Missense_Mutation_p.V139L|TRIM14_uc004ayf.1_3'UTR	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid phosphate synthase						lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CAATGAGAAGGTGTGTCCTGC	0.622		NA											13	31					1.36e-13	1.58e-13	1	0
LRRC8A	56262	broad.mit.edu	37	9	131670491	131670491	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:131670491A>C	uc004bwl.3	+	3	1302	c.1048A>C	c.(1048-1050)AAG>CAG	p.K350Q	LRRC8A_uc010myp.2_Missense_Mutation_p.K350Q|LRRC8A_uc010myq.2_Missense_Mutation_p.K350Q	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	350					pre-B cell differentiation	integral to membrane					0						CTCCCTCAAGAAGTACTCGTT	0.522		NA											6	38					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412327	139412327	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:139412327A>G	uc004chz.2	-	8	1318	c.1318T>C	c.(1318-1320)TGT>CGT	p.C440R		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	440	Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCTGCAGACACTGGCACTCG	0.657		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			9	29					0	0	0	0
ARSF	416	broad.mit.edu	37	X	2998964	2998964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:2998964C>T	uc004cre.1	+	5	537	c.316C>T	c.(316-318)CAA>TAA	p.Q106*	ARSF_uc004crf.1_Nonsense_Mutation_p.Q106*	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	106						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGTGTCATCCAAAATCTTGC	0.413		NA											21	12					0	0	0	0
PRKX	5613	broad.mit.edu	37	X	3573309	3573309	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:3573309G>A	uc010nde.2	-	3	847	c.480C>T	c.(478-480)ATC>ATT	p.I160I		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked	160	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GCAGGTACTCGATGGCACAGA	0.577		NA											35	49					0	0	0	0
CTPS2	56474	broad.mit.edu	37	X	16635319	16635319	+	Silent	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:16635319T>C	uc004cxk.2	-	16	2244	c.1500A>G	c.(1498-1500)GTA>GTG	p.V500V	CTPS2_uc004cxl.2_Silent_p.V500V|CTPS2_uc004cxm.2_Silent_p.V500V	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN	cytidine triphosphate synthase II	500	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)					CATCCTGACCTACAAAACTTA	0.398		NA											3	114					0	0	0	0
MAP7D2	256714	broad.mit.edu	37	X	20082895	20082895	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:20082895C>T	uc004czr.1	-	2	178	c.159G>A	c.(157-159)GAG>GAA	p.E53E	MAP7D2_uc011mji.1_Silent_p.E9E|MAP7D2_uc010nfo.1_Silent_p.E53E|MAP7D2_uc011mjj.1_Silent_p.E53E|MAP7D2_uc004czs.1_Silent_p.E9E	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	53	Potential.									ovary(2)|breast(1)	3						ATCTCTGCCTCTCATCTGATT	0.408		NA											8	20					0	0	0	0
BCOR	54880	broad.mit.edu	37	X	39934150	39934150	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:39934150T>C	uc004den.3	-	4	741	c.449A>G	c.(448-450)AAA>AGA	p.K150R	BCOR_uc004dep.3_Missense_Mutation_p.K150R|BCOR_uc004deo.3_Missense_Mutation_p.K150R|BCOR_uc004dem.3_Missense_Mutation_p.K150R|BCOR_uc004deq.3_Missense_Mutation_p.K150R	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	150					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						AGGCGGTGTTTTGTATATAGC	0.507		NA											27	33					0	0	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090676	91090676	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:91090676C>A	uc004efk.1	+	1	1018	c.173C>A	c.(172-174)ACA>AAA	p.T58K	PCDH11X_uc004efl.1_Missense_Mutation_p.T58K|PCDH11X_uc004efo.1_Missense_Mutation_p.T58K|PCDH11X_uc010nmv.1_Missense_Mutation_p.T58K|PCDH11X_uc004efm.1_Missense_Mutation_p.T58K|PCDH11X_uc004efn.1_Missense_Mutation_p.T58K|PCDH11X_uc004efh.1_Missense_Mutation_p.T58K|PCDH11X_uc004efj.1_Missense_Mutation_p.T58K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	58	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						AAGTCCTTGACAACTGCTATG	0.453		NA											36	68					9.04e-19	1.07e-18	1	0
CXorf48	54967	broad.mit.edu	37	X	134305034	134305034	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:134305034C>T	uc004eyk.1	-	1	718	c.62G>A	c.(61-63)CGA>CAA	p.R21Q	CXorf48_uc004eyl.1_Missense_Mutation_p.R21Q	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	hypothetical protein LOC54967 isoform 1	21											0	Acute lymphoblastic leukemia(192;0.000127)					TGGGCCCTGTCGCTCTGCAGG	0.642		NA											19	55					0	0	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539889	120539893	+	Frame_Shift_Del	DEL	GTGGT	GTGGT	-			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:120539889_120539893delGTGGT	uc001eik.2	-	4	734_738	c.478_482delACCAC	c.(478-483)ACCACTfs	p.T160fs	NOTCH2_uc001eil.2_Frame_Shift_Del_p.T160fs|NOTCH2_uc001eim.3_Frame_Shift_Del_p.T77fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	160_161	Extracellular (Potential).|EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGCCACAGTGGTACAGGTACTT	0.502		NA	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				13	119	---	---	---	---	NA	NA	NA	NA
RPTN	126638	broad.mit.edu	37	1	152128025	152128028	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:152128025_152128028delTGTC	uc001ezs.1	-	3	1612_1615	c.1547_1550delGACA	c.(1546-1551)AGACAAfs	p.R516fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	516_517	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						ACTCTGGCCTTGTCTGTCTGTCTG	0.5		NA											8	1252	---	---	---	---	NA	NA	NA	NA
ENO3	2027	broad.mit.edu	37	17	4856404	4856404	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:4856404delG	uc002gab.3	+	4	334	c.240delG	c.(238-240)AAGfs	p.K80fs	ENO3_uc010vsr.1_5'UTR|ENO3_uc002gac.3_Frame_Shift_Del_p.K80fs|ENO3_uc010vss.1_Intron|ENO3_uc010vst.1_5'Flank	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	80					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						TGCTGCAAAAGGCAAGTGGGG	0.577		NA											18	58	---	---	---	---	NA	NA	NA	NA
ASXL1	171023	broad.mit.edu	37	20	31021696	31021696	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:31021696delG	uc002wxs.2	+	11	2121	c.1695delG	c.(1693-1695)GAGfs	p.E565fs	ASXL1_uc010geb.2_Frame_Shift_Del_p.E456fs	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	565					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CCACTAAAGAGGAGCCCAAAG	0.512		NA	F|N|Mis		MDS|CMML								31	121	---	---	---	---	NA	NA	NA	NA