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	ACHILLES_Top_Genes	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	pox_cutoff	isArtifactMode	oxoGCut
SKI	6497	broad.mit.edu	37	1	2234776	2234776	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:2234776C>T	uc001aja.3	+	3	1220	c.1148C>T	c.(1147-1149)TCC>TTC	p.S383F		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	383					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CGACCCTGGTCCCCCGCAGTG	0.597	Ovarian(177;144 1678 13697 20086 27838 40755)		NA											81	181					0	0	0.01441	0	0
CROCC	9696	broad.mit.edu	37	1	17292317	17292317	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:17292317T>C	uc001azt.2	+	28	4574	c.4505T>C	c.(4504-4506)CTG>CCG	p.L1502P	CROCC_uc001azu.2_Missense_Mutation_p.L805P|CROCC_uc001azv.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1502					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCTCCAGACCTGGACCCGGAG	0.667			NA											11	35					0	0	0.008871	0	0
CNR2	1269	broad.mit.edu	37	1	24201958	24201958	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:24201958C>T	uc001bif.2	-	2	277	c.150G>A	c.(148-150)GAG>GAA	p.E50E		NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	50	Helical; Name=1; (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			skin(2)|central_nervous_system(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CAGCCACGTTCTCCAGGGCAC	0.557			NA											8	83					0	0	0.010729	0	0
BAI2	576	broad.mit.edu	37	1	32197007	32197007	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:32197007C>A	uc001btn.2	-	29	4128	c.3774G>T	c.(3772-3774)GAG>GAT	p.E1258D	BAI2_uc001btm.2_Missense_Mutation_p.E252D|BAI2_uc001btp.1_Missense_Mutation_p.E252D|BAI2_uc010ogn.1_Missense_Mutation_p.E228D|BAI2_uc010ogo.1_Missense_Mutation_p.E867D|BAI2_uc010ogp.1_Missense_Mutation_p.E1191D|BAI2_uc010ogq.1_Missense_Mutation_p.E1225D|BAI2_uc001bto.2_Missense_Mutation_p.E1258D	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1258	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AAGTGTTGACCTCCTTGAACA	0.627			NA											14	35					0.000566183	0.000618357	0.00499	1	0
KANK4	163782	broad.mit.edu	37	1	62740219	62740219	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:62740219G>T	uc001dah.3	-	3	934	c.557C>A	c.(556-558)GCC>GAC	p.A186D	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	186	Pro-rich.									ovary(3)|skin(2)|lung(1)	6						GGCAGGAGGGGCAGGGGGCCC	0.647			NA											15	22					5.03518e-11	6.60352e-11	0.007413	1	0
JAK1	3716	broad.mit.edu	37	1	65307190	65307190	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:65307190T>G	uc001dbu.1	-	18	2747	c.2498A>C	c.(2497-2499)AAT>ACT	p.N833T	JAK1_uc009wam.1_Missense_Mutation_p.N821T|JAK1_uc009wal.1_Missense_Mutation_p.N10T	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	833	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGGCCTCTGATTGGGGTCATA	0.493			NA	Mis		ALL								5	181					0	0	0.000602	0	0
LRRC7	57554	broad.mit.edu	37	1	70226072	70226072	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:70226072C>A	uc001dep.2	+	1	215	c.185C>A	c.(184-186)CCC>CAC	p.P62H	LRRC7_uc001deo.1_Missense_Mutation_p.P100H|LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	62	LRR 2.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GAAGAACTACCCAAGGTAACT	0.353			NA											28	33					2.80507e-11	3.69392e-11	0.012213	1	0
BCL10	8915	broad.mit.edu	37	1	85736391	85736391	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:85736391T>C	uc001dkz.2	-	3	961	c.256A>G	c.(256-258)ATT>GTT	p.I86V		NM_003921	NP_003912	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	86	CARD.				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			lung(2)	2				all cancers(265;0.0114)|Epithelial(280;0.0311)		TCTCGCCGAATAGATTCAACA	0.358	NSCLC(34;993 1034 12176 32621 50182)		NA	T	IGH@	MALT 								23	202					0	0	0.00333	0	0
IGSF3	3321	broad.mit.edu	37	1	117150688	117150688	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:117150688G>T	uc001egr.1	-	5	1803	c.1098C>A	c.(1096-1098)CTC>CTA	p.L366L	IGSF3_uc001egq.1_Silent_p.L366L|IGSF3_uc001egs.1_Silent_p.L39L	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	366	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTTCCTGGCGGAGGTGGTAGA	0.537			NA											8	138					5.35267e-07	6.29725e-07	0.007413	1	0
TBX15	6913	broad.mit.edu	37	1	119467339	119467339	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:119467339G>T	uc001ehl.1	-	4	620	c.305C>A	c.(304-306)ACC>AAC	p.T102N		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	208	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCTCATCCAGGTGTCTCCAGA	0.458			NA											76	83					7.56961e-61	1.28844e-60	0.01441	1	0
ECM1	1893	broad.mit.edu	37	1	150484952	150484952	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:150484952C>T	uc001eus.2	+	8	1407	c.1208C>T	c.(1207-1209)CCC>CTC	p.P403L	ECM1_uc001eut.2_Missense_Mutation_p.P278L|ECM1_uc001euu.2_Missense_Mutation_p.P432L|ECM1_uc001euv.2_Missense_Mutation_p.P430L|ECM1_uc009wlu.2_Missense_Mutation_p.P163L	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	403	2 X approximate repeats.|2.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTCCTTACCCCAACTATGAC	0.572	Melanoma(156;1696 2560 11093 19685)		NA											37	132					0	0	0.003755	0	0
PI4KB	5298	broad.mit.edu	37	1	151280153	151280153	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:151280153T>C	uc001ext.2	-	4	1494	c.1079A>G	c.(1078-1080)AAC>AGC	p.N360S	PI4KB_uc001exr.2_Missense_Mutation_p.N372S|PI4KB_uc001exs.2_Missense_Mutation_p.N345S|PI4KB_uc001exu.2_Missense_Mutation_p.N345S|PI4KB_uc010pcw.1_Missense_Mutation_p.N28S	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	360					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCTTATGGTTGAGCAGGGA	0.587	Colon(154;765 1838 9854 28443 37492)		NA											50	78					0	0	0.01441	0	0
FLG	2312	broad.mit.edu	37	1	152286049	152286049	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:152286049G>A	uc001ezu.1	-	3	1349	c.1313C>T	c.(1312-1314)TCA>TTA	p.S438L	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	438	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTGGCCTGACACTGATTG	0.587			NA							Ichthyosis				128	403					0	0	0.01441	0	0
LCE2D	353141	broad.mit.edu	37	1	152636816	152636816	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:152636816C>G	uc001fag.2	+	2	290	c.235C>G	c.(235-237)CGT>GGT	p.R79G		NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	79	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGGCCCCGTCTCTTCCA	0.682			NA											59	47					0	0	0.01441	0	0
BGLAP	632	broad.mit.edu	37	1	156212901	156212901	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:156212901C>T	uc001fnt.2	+	4	323	c.251C>T	c.(250-252)GCT>GTT	p.A84V	BGLAP_uc001fns.1_3'UTR	NM_199173	NP_954642	P02818	OSTCN_HUMAN	osteocalcin preproprotein	84	Gla.				bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation		calcium ion binding|hydroxyapatite binding|structural constituent of bone				0	Hepatocellular(266;0.158)				Phytonadione(DB01022)	GACGAGTTGGCTGACCACATC	0.652			NA											4	189					0	0	0.000602	0	0
SPTA1	6708	broad.mit.edu	37	1	158597480	158597480	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:158597480C>G	uc001fst.1	-	40	5798	c.5599G>C	c.(5599-5601)GAC>CAC	p.D1867H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1867	Spectrin 18.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ACAGCAAAGTCATTTTCCAAA	0.398			NA											104	109					0	0	0.01441	0	0
TAGLN2	8407	broad.mit.edu	37	1	159888618	159888619	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:159888618_159888619CC>AA	uc001fum.1	-	4	621_622	c.571_572GG>TT	c.(571-573)GGC>TTC	p.G191F	CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Missense_Mutation_p.G191F|TAGLN2_uc001fuo.1_3'UTR	NM_003564	NP_003555	P37802	TAGL2_HUMAN	transgelin 2	191	Calponin-like.				muscle organ development	nuclear membrane|plasma membrane	protein binding				0	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCCCGTAGCCAGTCATGCCT	0.545			NA											55	132					0	0	0.004672	0	0
DUSP27	92235	broad.mit.edu	37	1	167097069	167097069	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:167097069C>A	uc001geb.1	+	5	2701	c.2701C>A	c.(2701-2703)CGC>AGC	p.R901S		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	901	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						ATATTCTTCCCGCAGTAATTC	0.502			NA											28	89					1.45844e-13	1.9692e-13	0.013726	1	0
TNR	7143	broad.mit.edu	37	1	175336417	175336417	+	Silent	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:175336417A>T	uc001gkp.1	-	8	2061	c.1980T>A	c.(1978-1980)ACT>ACA	p.T660T	TNR_uc009wwu.1_Silent_p.T660T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	660	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CTCCATACTCAGTGCCAGGTA	0.483			NA											15	95					0	0	0.006122	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186823505	186823505	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:186823505T>A	uc001gsc.2	+	2	224	c.19T>A	c.(19-21)TAC>AAC	p.Y7N	PLA2G4A_uc010pos.1_Missense_Mutation_p.Y7N	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	7	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TATAGATCCTTACCAGCACAT	0.348			NA											6	45					0	0	0.001984	0	0
IGFN1	91156	broad.mit.edu	37	1	201184736	201184736	+	Missense_Mutation	SNP	C	C	T	rs149837907	by1000genomes	TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:201184736C>T	uc001gwc.2	+	4	1317	c.545C>T	c.(544-546)CCG>CTG	p.P182L	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						GCTGGGAAGCCGGTGATAGTG	0.562			NA											19	65					0	0	0.007413	0	0
ADORA1	134	broad.mit.edu	37	1	203134690	203134690	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:203134690G>C	uc001gze.1	+	4	1076	c.643G>C	c.(643-645)GTG>CTG	p.V215L	FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.V215L|ADORA1_uc010pqg.1_Missense_Mutation_p.V147L|ADORA1_uc009xak.1_Missense_Mutation_p.G140A|ADORA1_uc010pqh.1_Missense_Mutation_p.V248L	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	215	Cytoplasmic (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CAACAAGAAGGTGTCGGCCTC	0.567			NA											26	178					0	0	0.012213	0	0
CHIT1	1118	broad.mit.edu	37	1	203194938	203194938	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:203194938G>A	uc001gzn.2	-	3	212	c.116C>T	c.(115-117)GCT>GTT	p.A39V	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.A49V	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	39					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						CAGGAAGCGAGCCTCCCCCTG	0.577			NA											16	133					0	0	0.006122	0	0
KCNH1	3756	broad.mit.edu	37	1	211192154	211192154	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:211192154G>C	uc001hib.2	-	6	1173	c.1003C>G	c.(1003-1005)CCA>GCA	p.P335A	KCNH1_uc001hic.2_Intron	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	335	Extracellular (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGTGGTGGTGGAATCTGATCA	0.453			NA											15	259					0	0	0.004007	0	0
ESRRG	2104	broad.mit.edu	37	1	216850421	216850421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:216850421G>A	uc001hkw.1	-	2	635	c.469C>T	c.(469-471)CAA>TAA	p.Q157*	ESRRG_uc001hky.1_Nonsense_Mutation_p.Q134*|ESRRG_uc009xdp.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hkz.1_Nonsense_Mutation_p.Q134*|ESRRG_uc010puc.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hla.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hlb.1_Nonsense_Mutation_p.Q134*|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hld.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hkx.1_Nonsense_Mutation_p.Q162*|ESRRG_uc009xdo.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hle.1_Nonsense_Mutation_p.Q134*	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	157	Nuclear receptor.				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CACTAACCTTGAATTGTCCTC	0.448			NA											17	92					0	0	0.006122	0	0
MARK1	4139	broad.mit.edu	37	1	220791808	220791808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:220791808G>T	uc001hmn.3	+	8	1306	c.709G>T	c.(709-711)GAA>TAA	p.E237*	MARK1_uc009xdw.2_Nonsense_Mutation_p.E237*|MARK1_uc010pun.1_Nonsense_Mutation_p.E237*|MARK1_uc001hmm.3_Nonsense_Mutation_p.E215*	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	237	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		TGATGGGCCTGAAGTGGATGT	0.433			NA											28	40					7.01153e-11	9.12069e-11	0.007291	1	0
ZNF238	10472	broad.mit.edu	37	1	244217323	244217323	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:244217323G>T	uc001iae.2	+	1	742	c.220G>T	c.(220-222)GCT>TCT	p.A74S	ZNF238_uc001iad.3_Missense_Mutation_p.A83S|ZNF238_uc001iaf.1_Missense_Mutation_p.A74S	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	74	BTB.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			TACAGCCCCCGCTTTCGCTCT	0.463			NA											91	70					8.26238e-36	1.33533e-35	0.01441	1	0
TFB2M	64216	broad.mit.edu	37	1	246714570	246714570	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:246714570T>C	uc001ibn.2	-	5	865	c.740A>G	c.(739-741)TAT>TGT	p.Y247C	TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	247					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TAATACATGATACAAGTCTGG	0.294			NA											22	71					0	0	0.00333	0	0
OR2G3	81469	broad.mit.edu	37	1	247769097	247769097	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:247769097C>A	uc010pyz.1	+	1	210	c.210C>A	c.(208-210)GAC>GAA	p.D70E		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTTACTGGACATCTGCTTCA	0.438			NA											117	503					2.21805e-50	3.75543e-50	0.01441	1	0
OR2M4	26245	broad.mit.edu	37	1	248402862	248402862	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:248402862T>G	uc010pzh.1	+	1	632	c.632T>G	c.(631-633)GTT>GGT	p.V211G		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	211	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCTTTCCAGTTTCAGTTATC	0.463			NA											7	140					0	0	0.00308	0	0
OR2T11	127077	broad.mit.edu	37	1	248790027	248790027	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:248790027G>A	uc001ier.1	-	1	403	c.403C>T	c.(403-405)CGC>TGC	p.R135C		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACTTCTTGCGGTTCATCAGG	0.547			NA											5	79					0	0	0.000602	0	0
DIP2C	22982	broad.mit.edu	37	10	395293	395293	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:395293G>A	uc001ifp.2	-	25	3177	c.3087C>T	c.(3085-3087)CAC>CAT	p.H1029H	DIP2C_uc009xhi.1_Silent_p.H415H	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1029						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAAGGCCACGTGGTCGCCGT	0.647			NA											25	23					0	0	0.00632	0	0
ITIH5	80760	broad.mit.edu	37	10	7618929	7618929	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:7618929C>T	uc001ijq.2	-	10	1544	c.1465G>A	c.(1465-1467)GAT>AAT	p.D489N	ITIH5_uc001ijp.2_Missense_Mutation_p.D275N|ITIH5_uc001ijr.1_Missense_Mutation_p.D489N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	489					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GGGGGATAATCGATGCGGATG	0.587			NA											14	65					0	0	0.003163	0	0
GATA3	2625	broad.mit.edu	37	10	8111435	8111435	+	Splice_Site	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:8111435G>T	uc001ika.2	+	5	1479	c.922_splice	c.e5-1	p.S308_splice	GATA3_uc001ijz.2_Splice_Site_p.S309_splice	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2						aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						CCCACTCTCAGTCTGCAGCCA	0.483			NA	F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						8	85					5.18039e-06	5.92045e-06	0.00308	1	0
CUBN	8029	broad.mit.edu	37	10	16970156	16970156	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:16970156T>C	uc001ioo.2	-	41	6323	c.6271A>G	c.(6271-6273)AGC>GGC	p.S2091G		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2091	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACTCATTACTCTTGTGAAAG	0.368			NA											3	86					0	0	0.004672	0	0
MLLT10	8028	broad.mit.edu	37	10	22022812	22022812	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:22022812A>G	uc001iqs.2	+	21	3008	c.2660A>G	c.(2659-2661)AAT>AGT	p.N887S	MLLT10_uc001iqt.2_Missense_Mutation_p.N871S|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.N871S|MLLT10_uc001ira.2_Missense_Mutation_p.N328S|MLLT10_uc001irb.2_RNA	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	887					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2						CAGCAGGTCAATGGCGTGACA	0.557			NA	T	MLL|PICALM|CDK6	AL								31	42					0	0	0.008361	0	0
ARMC3	219681	broad.mit.edu	37	10	23297778	23297778	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:23297778T>A	uc001irm.3	+	16	2046	c.1963T>A	c.(1963-1965)TCT>ACT	p.S655T	ARMC3_uc010qcv.1_Missense_Mutation_p.S648T|ARMC3_uc010qcw.1_Missense_Mutation_p.S392T	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	655							binding				0						TGGATTTGGATCTCCCATAGA	0.338			NA											12	24					0	0	0.00245	0	0
GPR158	57512	broad.mit.edu	37	10	25887711	25887711	+	Silent	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:25887711T>A	uc001isj.2	+	11	3216	c.3156T>A	c.(3154-3156)CCT>CCA	p.P1052P	GPR158_uc001isk.2_Silent_p.P427P	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1052	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						ACCACAAGCCTAAGGCAGCTG	0.438			NA											24	93					0	0	0.00632	0	0
EPC1	80314	broad.mit.edu	37	10	32573955	32573955	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:32573955G>A	uc001iwg.1	-	10	1685	c.1415C>T	c.(1414-1416)TCA>TTA	p.S472L	EPC1_uc001iwi.3_Missense_Mutation_p.S422L|EPC1_uc009xlt.2_Missense_Mutation_p.S422L|EPC1_uc001iwh.1_Missense_Mutation_p.S472L	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	472					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)				GTCATAGTCTGAATGAGCTCT	0.338			NA											31	106					0	0	0.003271	0	0
ZNF248	57209	broad.mit.edu	37	10	38120629	38120629	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:38120629C>A	uc001izd.1	-	6	2153	c.1654G>T	c.(1654-1656)GCA>TCA	p.A552S	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.A552S	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	552	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCCCACATGCATTACACTCA	0.428			NA											28	29					1.90571e-15	2.67468e-15	0.004289	1	0
TBC1D12	23232	broad.mit.edu	37	10	96291100	96291100	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:96291100G>A	uc001kjr.2	+	12	2327	c.2142G>A	c.(2140-2142)ATG>ATA	p.M714I		NM_015188	NP_056003	O60347	TBC12_HUMAN	TBC1 domain family, member 12	714						intracellular	Rab GTPase activator activity				0		Colorectal(252;0.0429)				TCCTGCAGATGGACTTTATTC	0.388			NA											26	89					0	0	0.008361	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193795	193795	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:193795G>T	uc001loa.1	+	2	159	c.139G>T	c.(139-141)GAG>TAG	p.E47*	ODF3_uc001lob.2_5'Flank|ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank	NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1 precursor	47						extracellular region	binding			skin(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGAGCTCTATGAGGGGACCTT	0.537			NA											9	90					0.00448238	0.0047972	0.004482	1	0
TALDO1	6888	broad.mit.edu	37	11	763398	763398	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:763398C>T	uc001lqz.2	+	5	566	c.516C>T	c.(514-516)TTC>TTT	p.F172F	TALDO1_uc001lra.2_Silent_p.F172F	NM_006755	NP_006746	P37837	TALDO_HUMAN	transaldolase 1	172					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity				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;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TCTTCTCCTTCGCCCAGGCTG	0.463			NA											26	148					0	0	0.013726	0	0
OR51A7	119687	broad.mit.edu	37	11	4928721	4928721	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:4928721G>T	uc010qyq.1	+	1	122	c.122G>T	c.(121-123)GGC>GTC	p.G41V		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATCATGGGCAACTGCACC	0.488			NA											46	117					6.32628e-17	9.03754e-17	0.01441	1	0
OR56A4	120793	broad.mit.edu	37	11	6023636	6023636	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:6023636G>A	uc010qzv.1	-	1	743	c.743C>T	c.(742-744)ACT>ATT	p.T248I		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	196	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGATTGAAAGTGATGTCATC	0.428			NA											14	22					0	0	0.00278	0	0
TPH1	7166	broad.mit.edu	37	11	18044391	18044391	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:18044391C>T	uc001mnp.2	-	9	1140	c.1114G>A	c.(1114-1116)GTC>ATC	p.V372I	TPH1_uc009yhe.2_RNA	NM_004179	NP_004170	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	372					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity				0					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACAAAGTAGACATCTTGAAAA	0.403			NA											18	29					0	0	0.00499	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676384	20676384	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:20676384G>A	uc001mqd.2	+	16	2637	c.2364G>A	c.(2362-2364)GTG>GTA	p.V788V	SLC6A5_uc009yic.2_Silent_p.V553V	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	788	Cytoplasmic (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	AACTGCCAGTGAAGGATTTGG	0.532			NA											5	213					0	0	0.00308	0	0
EHF	26298	broad.mit.edu	37	11	34668199	34668199	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:34668199T>C	uc001mvr.1	+	3	422	c.311T>C	c.(310-312)CTC>CCC	p.L104P	EHF_uc009yke.1_Missense_Mutation_p.L104P|EHF_uc009ykf.1_Missense_Mutation_p.L107P	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	ets homologous factor	104	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGGCAGCTCCTCTACAGCAAC	0.552			NA											60	138					0	0	0.01441	0	0
SYT13	57586	broad.mit.edu	37	11	45307669	45307669	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:45307669A>G	uc001myq.2	-	1	216	c.90T>C	c.(88-90)TGT>TGC	p.C30C	SYT13_uc009yku.1_5'UTR	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	30	Cytoplasmic (Potential).					transport vesicle				ovary(1)	1						GCATGTGCCGACACAGGCAGG	0.687			NA											5	11					0	0	0.001984	0	0
CHRM4	1132	broad.mit.edu	37	11	46407047	46407047	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:46407047A>T	uc001nct.1	-	1	1061	c.1061T>A	c.(1060-1062)GTG>GAG	p.V354E		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	354	Cytoplasmic (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	AATGGCTGTCACACACTCATT	0.657	Esophageal Squamous(171;1020 1936 4566 30205 42542)		NA											24	134					0	0	0.008361	0	0
OR4X1	390113	broad.mit.edu	37	11	48285600	48285600	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:48285600A>G	uc010rht.1	+	1	188	c.188A>G	c.(187-189)TAC>TGC	p.Y63C		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						TTTCTCAGCTACTTATCCTTT	0.493			NA											6	102					0	0	0.001168	0	0
OR4S1	256148	broad.mit.edu	37	11	48328454	48328454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:48328454C>A	uc010rhu.1	+	1	680	c.680C>A	c.(679-681)TCA>TAA	p.S227*		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGAAGCCAGTCATCTGAGGAC	0.468			NA											52	201					1.13205e-32	1.79334e-32	0.01441	1	0
OR4C13	283092	broad.mit.edu	37	11	49974727	49974727	+	Silent	SNP	C	C	A	rs150732180		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:49974727C>A	uc010rhz.1	+	1	753	c.753C>A	c.(751-753)CCC>CCA	p.P251P		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P251P(1)		skin(3)|ovary(1)	4						CCTTTATACCCTGCATATTTG	0.418			NA											34	138					1.49673e-21	2.20716e-21	0.00623	1	0
OR4A16	81327	broad.mit.edu	37	11	55110823	55110823	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:55110823C>A	uc010rie.1	+	1	147	c.147C>A	c.(145-147)GGC>GGA	p.G49G		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						CTACTATTGGCAGCCCCTCCT	0.413			NA											52	92					1.03172e-35	1.65905e-35	0.01441	1	0
SPRYD5	84767	broad.mit.edu	37	11	55658932	55658932	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:55658932T>A	uc010rip.1	+	7	1275	c.1183T>A	c.(1183-1185)TCC>ACC	p.S395T	SPRYD5_uc010riq.1_Missense_Mutation_p.S252T	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	395	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				CTTTACCACCTCCCCACTTGT	0.448			NA											19	47					0	0	0.008871	0	0
OR8J1	219477	broad.mit.edu	37	11	56128013	56128013	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:56128013T>A	uc010rjh.1	+	1	291	c.291T>A	c.(289-291)TGT>TGA	p.C97*		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TCTATGAATGTGCCACCCAAC	0.413			NA											34	118					0	0	0.003755	0	0
PRPF19	27339	broad.mit.edu	37	11	60658726	60658726	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:60658726C>T	uc001nqf.2	-	16	1634	c.1427G>A	c.(1426-1428)GGC>GAC	p.G476D		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	476	WD 7.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						TGTGGTCAGGCCGCTATGCTC	0.522			NA											11	39					0	0	0.008291	0	0
C11orf9	745	broad.mit.edu	37	11	61544847	61544847	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:61544847G>T	uc001nsc.1	+	12	1798	c.1702G>T	c.(1702-1704)GAT>TAT	p.D568Y	C11orf9_uc001nse.1_Missense_Mutation_p.D559Y|C11orf9_uc010rll.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	568					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						AGACCGGCCGGATGAGGCGCT	0.597			NA											16	50					7.07758e-08	8.54651e-08	0.004656	1	0
CNTN5	53942	broad.mit.edu	37	11	100211835	100211835	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:100211835A>C	uc001pga.2	+	23	3267	c.2928A>C	c.(2926-2928)CAA>CAC	p.Q976H	CNTN5_uc001pgb.2_Missense_Mutation_p.Q902H|CNTN5_uc010ruk.1_Missense_Mutation_p.Q247H	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	976	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTCCTAGTCAAGCACCTAGCA	0.423			NA											5	96					0	0	0.000602	0	0
PRDM10	56980	broad.mit.edu	37	11	129794872	129794872	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:129794872G>A	uc001qfm.2	-	13	2027	c.1795C>T	c.(1795-1797)CGC>TGC	p.R599C	PRDM10_uc001qfj.2_Missense_Mutation_p.R513C|PRDM10_uc001qfk.2_Missense_Mutation_p.R509C|PRDM10_uc001qfl.2_Missense_Mutation_p.R513C|PRDM10_uc010sbx.1_Missense_Mutation_p.R509C|PRDM10_uc001qfn.2_Missense_Mutation_p.R595C	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	599	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AAATCAAGGCGGTCAAAGGAT	0.453			NA											33	112					0	0	0.003271	0	0
CD163L1	283316	broad.mit.edu	37	12	7586276	7586276	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:7586276C>A	uc001qsy.2	-	3	165	c.139G>T	c.(139-141)GAG>TAG	p.E47*	CD163L1_uc010sge.1_Nonsense_Mutation_p.E47*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	47	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						AGCCTCAACTCCAAATCTGTT	0.458			NA											12	53					0.000308642	0.00034057	0.003163	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:25398285C>A	uc001rgp.1	-	2	215	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	10					1.08611e-07	1.3017e-07	0.010729	1	0
SYT10	341359	broad.mit.edu	37	12	33529829	33529829	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:33529829C>G	uc001rll.1	-	7	1805	c.1508G>C	c.(1507-1509)GGC>GCC	p.G503A	SYT10_uc009zju.1_Missense_Mutation_p.G313A	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	503	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGTCGCCCGGCCAGGTAACTG	0.398			NA											26	49					0	0	0.005443	0	0
WNT10B	7480	broad.mit.edu	37	12	49362049	49362049	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:49362049C>A	uc001rss.2	-	4	737	c.391G>T	c.(391-393)GCA>TCA	p.A131S	WNT10B_uc001rst.2_Missense_Mutation_p.A131S	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	131					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(4)|lung(3)	7						GTGGCTACTGCGTGCATGACC	0.602			NA											15	28					1.5739e-10	2.02268e-10	0.004007	1	0
FMNL3	91010	broad.mit.edu	37	12	50045755	50045755	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:50045755G>A	uc001ruv.1	-	14	1798	c.1564C>T	c.(1564-1566)CCA>TCA	p.P522S	FMNL3_uc001ruw.1_Missense_Mutation_p.P471S|FMNL3_uc001rut.1_Missense_Mutation_p.P88S|FMNL3_uc001ruu.1_Missense_Mutation_p.P372S	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	522	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						GGCGGAGCTGGTGGTGGAGGA	0.647			NA											4	17					0	0	0.000602	0	0
ERBB3	2065	broad.mit.edu	37	12	56489093	56489093	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:56489093G>T	uc001sjh.2	+	16	2105	c.1912G>T	c.(1912-1914)GGC>TGC	p.G638C	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_5'UTR|ERBB3_uc010sqc.1_Missense_Mutation_p.G579C|ERBB3_uc009zok.2_Missense_Mutation_p.G80C|ERBB3_uc001sjk.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	638	Extracellular (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)			GGTGCTGATCGGGTATGATGG	0.502			NA											39	70					4.01765e-15	5.58978e-15	0.009718	1	0
SLC39A5	283375	broad.mit.edu	37	12	56629465	56629465	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:56629465G>A	uc010sqj.1	+	8	1183	c.926G>A	c.(925-927)CGG>CAG	p.R309Q	SLC39A5_uc010sqi.1_Missense_Mutation_p.R200Q|SLC39A5_uc010sqk.1_Missense_Mutation_p.R309Q	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	309	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						GGGCTTTTGCGGCACCGAGGG	0.552			NA											10	316					0	0	0.008291	0	0
DPY19L2	283417	broad.mit.edu	37	12	63974596	63974596	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:63974596G>T	uc001srp.1	-	19	1927	c.1746C>A	c.(1744-1746)CGC>CGA	p.R582R	DPY19L2_uc010sso.1_Silent_p.R29R	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	582					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AACGAACTCTGCGAAAAAGCC	0.368			NA											19	37					3.62473e-10	4.62117e-10	0.012319	1	0
E2F7	144455	broad.mit.edu	37	12	77424063	77424063	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:77424063C>G	uc001sym.3	-	10	1668	c.1432G>C	c.(1432-1434)GAC>CAC	p.D478H	E2F7_uc009zse.2_5'UTR	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	478					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						GCAACAGGGTCCAAGCTGCTT	0.468			NA											67	159					0	0	0.01441	0	0
IFT81	28981	broad.mit.edu	37	12	110574609	110574609	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:110574609G>A	uc001tqi.2	+	8	855	c.725G>A	c.(724-726)AGA>AAA	p.R242K	IFT81_uc001tqh.2_Missense_Mutation_p.R242K|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.R242K	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	242	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						AGATTGCAAAGAGTACAAAAC	0.348			NA											11	30					0	0	0.001855	0	0
ACAD10	80724	broad.mit.edu	37	12	112174763	112174763	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:112174763C>T	uc001tsq.2	+	12	1869	c.1669C>T	c.(1669-1671)CGT>TGT	p.R557C	ACAD10_uc001tsp.2_Missense_Mutation_p.R557C|ACAD10_uc009zvx.2_Missense_Mutation_p.R588C|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	557							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						TTCCTTTTTCCGTGTGGCTGC	0.532			NA											4	123					0	0	0.009096	0	0
IQCD	115811	broad.mit.edu	37	12	113645421	113645421	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:113645421A>G	uc001tuv.1	-	2	973	c.551T>C	c.(550-552)ATT>ACT	p.I184T	IQCD_uc001tuu.2_Missense_Mutation_p.I184T	NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	184										ovary(1)	1						CAGGCTGTCAATAAAATTCTG	0.498			NA											3	132					0	0	0.004672	0	0
TBX3	6926	broad.mit.edu	37	12	115120699	115120699	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:115120699G>T	uc001tvt.1	-	1	1271	c.307C>A	c.(307-309)CCC>ACC	p.P103T	TBX3_uc001tvu.1_Missense_Mutation_p.P103T|TBX3_uc010syw.1_Missense_Mutation_p.P103T	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	103					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGCACCTTGGGGTCGTCCTCC	0.622			NA											22	49					1.1804e-14	1.62813e-14	0.003954	1	0
ZCCHC8	55596	broad.mit.edu	37	12	122958283	122958283	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:122958283C>A	uc001ucn.2	-	14	2016	c.1885G>T	c.(1885-1887)GTC>TTC	p.V629F	ZCCHC8_uc001ucl.2_Missense_Mutation_p.V240F|ZCCHC8_uc001ucm.2_Missense_Mutation_p.V391F|ZCCHC8_uc009zxp.2_Missense_Mutation_p.V391F|ZCCHC8_uc009zxq.2_Missense_Mutation_p.V391F	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	629						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTGGTACGACACTGCCATTA	0.498			NA											13	251					2.27111e-07	2.70169e-07	0.013537	1	0
PIWIL1	9271	broad.mit.edu	37	12	130841526	130841526	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:130841526G>T	uc001uik.2	+	13	1558	c.1468G>T	c.(1468-1470)GTT>TTT	p.V490F	PIWIL1_uc001uij.1_Missense_Mutation_p.V490F	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	490					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATTAATTAGTGTTAAGCCACT	0.368			NA											18	80					1.00905e-13	1.3682e-13	0.008871	1	0
MPHOSPH8	54737	broad.mit.edu	37	13	20221403	20221403	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr13:20221403G>T	uc001umh.2	+	3	1199	c.1190G>T	c.(1189-1191)GGC>GTC	p.G397V	MPHOSPH8_uc001umf.1_Missense_Mutation_p.G397V|MPHOSPH8_uc001umg.2_Missense_Mutation_p.G397V|MPHOSPH8_uc001umi.2_Missense_Mutation_p.G94V	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	397					cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GAAGAGAGAGGCCTCTGGTCC	0.542			NA											14	22					6.94344e-10	8.74764e-10	0.006122	1	0
BRCA2	675	broad.mit.edu	37	13	32907276	32907276	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr13:32907276G>T	uc001uub.1	+	10	1888	c.1661G>T	c.(1660-1662)TGT>TTT	p.C554F	BRCA2_uc001uua.1_Missense_Mutation_p.C431F	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	554			C -> W (in BC and pancreas cancer).		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACTCCTTATGTCCAAATTTA	0.383	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		NA	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			46	48					5.7616e-29	8.95006e-29	0.01441	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412026	105412026	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr14:105412026G>T	uc010axc.1	-	7	9882	c.9762C>A	c.(9760-9762)GAC>GAA	p.D3254E	AHNAK2_uc001ypx.2_Missense_Mutation_p.D3154E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3254						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTTTCAGGTCCAGCTTGG	0.607			NA											17	121					2.81731e-10	3.60616e-10	0.010818	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412521	105412521	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr14:105412521G>T	uc010axc.1	-	7	9387	c.9267C>A	c.(9265-9267)GAC>GAA	p.D3089E	AHNAK2_uc001ypx.2_Missense_Mutation_p.D2989E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3089						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTTTCAGGTCCAGCTTGG	0.612			NA											11	120					3.8784e-16	5.49155e-16	0.012319	1	0
GJD2	57369	broad.mit.edu	37	15	35045068	35045068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:35045068C>A	uc001zis.1	-	2	577	c.577G>T	c.(577-579)GAA>TAA	p.E193*	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	193	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GAGATGCCTTCCTGCCTTCTG	0.488			NA											78	86					9.59377e-39	1.60733e-38	0.01441	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42109166	42109166	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:42109166G>T	uc001zok.3	+	15	1948	c.1662G>T	c.(1660-1662)GGG>GGT	p.G554G	MAPKBP1_uc001zoj.3_Silent_p.G548G|MAPKBP1_uc010bcj.2_Silent_p.G55G|MAPKBP1_uc010bci.2_Silent_p.G548G|MAPKBP1_uc010udb.1_Silent_p.G387G|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.G55G	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	554	WD 8.									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGGATGCCGGGCGGGAGTACA	0.582			NA											30	55					8.4185e-14	1.14635e-13	0.012213	1	0
CTDSPL2	51496	broad.mit.edu	37	15	44806806	44806806	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:44806806G>C	uc001ztr.2	+	9	1396	c.980G>C	c.(979-981)AGA>ACA	p.R327T	CTDSPL2_uc001zts.2_Missense_Mutation_p.R327T|CTDSPL2_uc001ztt.2_Missense_Mutation_p.R327T|CTDSPL2_uc010bdv.2_Missense_Mutation_p.R255T	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	327	FCP1 homology.						phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GTTTATGTGAGATTAAGACCA	0.294			NA											14	40					0	0	0.00499	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063372	48063372	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:48063372G>A	uc010bek.2	+	19	2972	c.2612G>A	c.(2611-2613)CGT>CAT	p.R871H	SEMA6D_uc001zvw.2_Missense_Mutation_p.R809H|SEMA6D_uc001zvy.2_Missense_Mutation_p.R871H|SEMA6D_uc001zvz.2_Missense_Mutation_p.R815H|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.R809H|SEMA6D_uc001zwc.2_Missense_Mutation_p.R796H	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	871	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GATCACCGGCGTTCTGTTGAT	0.443			NA											24	82					0	0	0.00278	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621915	65621915	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:65621915A>G	uc002aos.2	-	13	2270	c.2018T>C	c.(2017-2019)GTG>GCG	p.V673A	IGDCC3_uc002aor.1_5'UTR	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	673	Cytoplasmic (Potential).									ovary(3)	3						CTGGTTTTCCACATCTTTACA	0.612			NA											33	57					0	0	0.003271	0	0
MSLNL	401827	broad.mit.edu	37	16	830202	830202	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:830202G>T	uc002cjz.1	-	3	799	c.799C>A	c.(799-801)CCT>ACT	p.P267T		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	512	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						GCGGGAGCAGGGGCCGGGGCA	0.677			NA											4	27					5.9392e-07	6.9617e-07	0.001168	1	0
ACSM2A	123876	broad.mit.edu	37	16	20491954	20491954	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:20491954G>A	uc010bwe.2	+	12	1580	c.1341G>A	c.(1339-1341)CGG>CGA	p.R447R	ACSM2A_uc010vax.1_Silent_p.R368R|ACSM2A_uc002dhf.3_Silent_p.R447R|ACSM2A_uc002dhg.3_Silent_p.R447R|ACSM2A_uc010vay.1_Silent_p.R368R|ACSM2A_uc002dhh.3_Silent_p.R77R	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	447					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						TTGGAGACCGGGGAATCAAAG	0.493			NA											14	74					0	0	0.005443	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554525	20554525	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:20554525C>T	uc002dhj.3	-	12	1551	c.1341G>A	c.(1339-1341)CGG>CGA	p.R447R	ACSM2B_uc002dhk.3_Silent_p.R447R|ACSM2B_uc010bwf.1_Silent_p.R447R	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	447					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						CTTTGATTCCCCGGTCTCCAA	0.493			NA											29	375					0	0	0.012213	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498858	31498858	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:31498858C>T	uc002ecf.3	+	7	682	c.663C>T	c.(661-663)CAC>CAT	p.H221H	SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	221	Helical; (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						CAGCCTTCCACGAGGTGGGCG	0.657			NA											18	88					0	0	0.00278	0	0
MYLK3	91807	broad.mit.edu	37	16	46764575	46764575	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:46764575G>C	uc002eei.3	-	5	1614	c.1498C>G	c.(1498-1500)CGG>GGG	p.R500G	MYLK3_uc010vge.1_Missense_Mutation_p.R159G|MYLK3_uc002eej.1_Missense_Mutation_p.R159G	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	500					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCACTACCCGGTGTTCAAAA	0.607			NA											41	43					0	0	0.011902	0	0
HYDIN	54768	broad.mit.edu	37	16	70896074	70896074	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:70896074C>A	uc002ezr.2	-	69	11779	c.11651G>T	c.(11650-11652)GGT>GTT	p.G3884V	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3885										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CTGTGGGGAACCCTCGGCCCA	0.562			NA											12	19					0.000978159	0.00106105	0.010729	1	0
PMFBP1	83449	broad.mit.edu	37	16	72159911	72159911	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:72159911T>G	uc002fcc.3	-	15	2396	c.2224A>C	c.(2224-2226)AAG>CAG	p.K742Q	PMFBP1_uc002fcd.2_Missense_Mutation_p.K737Q|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.K592Q|PMFBP1_uc010cgo.1_Missense_Mutation_p.K33Q	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	742										ovary(2)	2		Ovarian(137;0.179)				GCGGCTGACTTCCGGGATAAT	0.542			NA											52	66					0	0	0.01441	0	0
MED24	9862	broad.mit.edu	37	17	38179414	38179414	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:38179414G>A	uc002htt.2	-	20	2533	c.2220C>T	c.(2218-2220)GGC>GGT	p.G740G	MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'Flank|MED24_uc010wer.1_Silent_p.G75G|MED24_uc010wes.1_Silent_p.G600G|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.G765G|MED24_uc002htu.2_Silent_p.G727G|MED24_uc010cwn.2_Silent_p.G727G|MED24_uc010weu.1_Silent_p.G650G|MED24_uc010wev.1_Silent_p.G690G|MED24_uc010wew.1_Silent_p.G681G	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	740					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					ACCAGTAGACGCCGCCCATGT	0.592			NA											17	27					0	0	0.007413	0	0
KRT17	3872	broad.mit.edu	37	17	39778677	39778677	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:39778677C>A	uc002hxh.2	-	3	723	c.602G>T	c.(601-603)AGA>ATA	p.R201I	JUP_uc010wfs.1_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	201	Coil 1B.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				CAGGTCGGCTCTGGCCAGGGT	0.602	Pancreas(92;1242 2086 39193 50508)		NA							Steatocystoma_Multiplex				74	124					1.15773e-35	1.85237e-35	0.01441	1	0
DBF4B	80174	broad.mit.edu	37	17	42825784	42825784	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:42825784C>T	uc002ihf.2	+	13	1353	c.1140C>T	c.(1138-1140)CCC>CCT	p.P380P	DBF4B_uc002ihe.2_Silent_p.P194P|DBF4B_uc010wjc.1_Silent_p.P364P	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	380					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				CCTCCCATCCCAGGGCAGCAT	0.582			NA											30	160					0	0	0.012213	0	0
TUBD1	51174	broad.mit.edu	37	17	57968330	57968330	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:57968330C>A	uc002ixw.1	-	2	312	c.34G>T	c.(34-36)GGC>TGC	p.G12C	TUBD1_uc010ddf.1_Missense_Mutation_p.G12C|TUBD1_uc010ddg.1_Intron|TUBD1_uc010ddh.1_5'UTR|TUBD1_uc010wok.1_Missense_Mutation_p.G12C|TUBD1_uc002ixx.1_Missense_Mutation_p.G12C|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Missense_Mutation_p.G12C|RPS6KB1_uc010ddj.1_5'Flank|RPS6KB1_uc002ixy.2_5'Flank|RPS6KB1_uc010wom.1_5'Flank|RPS6KB1_uc010won.1_5'Flank	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	12					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			ATCTGATTGCCACACTGACCA	0.408			NA											42	88					5.44703e-19	7.85157e-19	0.009718	1	0
HELZ	9931	broad.mit.edu	37	17	65082999	65082999	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:65082999G>C	uc010wqk.1	-	32	5630	c.5443C>G	c.(5443-5445)CAG>GAG	p.Q1815E	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Q1814E	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGAATGTTCTGATAAGGAGTA	0.478			NA											33	172					0	0	0.003755	0	0
UNC13D	201294	broad.mit.edu	37	17	73832735	73832735	+	Missense_Mutation	SNP	C	C	T	rs149099554		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:73832735C>T	uc002jpp.2	-	14	1596	c.1216G>A	c.(1216-1218)GGC>AGC	p.G406S	UNC13D_uc010wsk.1_Missense_Mutation_p.G406S|UNC13D_uc002jpq.1_Missense_Mutation_p.G56S|UNC13D_uc010dgq.1_Missense_Mutation_p.G202S	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	406	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGGAGAGGCCGTAGGTCAGC	0.637			NA							Familial_Hemophagocytic_Lymphohistiocytosis				20	60					0	0	0.00333	0	0
TRIM47	91107	broad.mit.edu	37	17	73870695	73870695	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:73870695G>A	uc002jpw.2	-	6	1813	c.1786C>T	c.(1786-1788)CGC>TGC	p.R596C	TRIM47_uc002jpv.2_Missense_Mutation_p.R358C	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	tripartite motif-containing 47	596	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|prostate(1)|lung(1)|breast(1)	5			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTCCAGGCGGCTCTGGAAG	0.657			NA											43	105					0	0	0.01441	0	0
SEC14L1	6397	broad.mit.edu	37	17	75187325	75187325	+	Silent	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:75187325T>C	uc002jto.2	+	5	543	c.276T>C	c.(274-276)ACT>ACC	p.T92T	SEC14L1_uc010dhc.2_Silent_p.T92T|SEC14L1_uc010wth.1_Silent_p.T92T|SEC14L1_uc002jtm.2_Silent_p.T92T|SEC14L1_uc010wti.1_Silent_p.T58T	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	92	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						GGGAACGTACTTTGCACATTG	0.368			NA											4	251					0	0	0.009096	0	0
GAA	2548	broad.mit.edu	37	17	78078846	78078846	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:78078846G>T	uc002jxo.2	+	3	643	c.461G>T	c.(460-462)CGT>CTT	p.R154L	GAA_uc002jxp.2_Missense_Mutation_p.R154L|GAA_uc002jxq.2_Missense_Mutation_p.R154L	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	154					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACCCTGACCCGTACCACCCCC	0.627			NA											19	37					1.37657e-19	1.99322e-19	0.012319	1	0
AZI1	22994	broad.mit.edu	37	17	79165040	79165040	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:79165040G>T	uc002jzp.1	-	22	2927	c.2727C>A	c.(2725-2727)GCC>GCA	p.A909A	AZI1_uc002jzm.1_Silent_p.A341A|AZI1_uc002jzn.1_Silent_p.A906A|AZI1_uc002jzo.1_Silent_p.A870A|AZI1_uc010wum.1_Silent_p.A873A|AZI1_uc002jzq.2_Silent_p.A57A	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	909					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCGCCATGTCGGCCTCCAGCC	0.652			NA											12	68					1.52009e-12	2.02679e-12	0.003163	1	0
SMCHD1	23347	broad.mit.edu	37	18	2656197	2656197	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:2656197G>T	uc002klm.3	+	1	312	c.123G>T	c.(121-123)GGG>GGT	p.G41G		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	41					chromosome organization		ATP binding				0						CCGAGCTCGGGGACCGGCCTC	0.667			NA											9	16					0.000442599	0.00048504	0.006214	1	0
EPB41L3	23136	broad.mit.edu	37	18	5419763	5419763	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:5419763G>A	uc002kmt.1	-	12	1539	c.1453C>T	c.(1453-1455)CGG>TGG	p.R485W	EPB41L3_uc010wzh.1_Missense_Mutation_p.R503W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R503W|EPB41L3_uc010dkq.1_Missense_Mutation_p.R394W|EPB41L3_uc002kms.1_Translation_Start_Site|EPB41L3_uc010wze.1_Translation_Start_Site|EPB41L3_uc010wzf.1_Translation_Start_Site|EPB41L3_uc010wzg.1_Translation_Start_Site|EPB41L3_uc010dkr.2_Missense_Mutation_p.R64W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	485	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						cccttcctccgtttgtcctct	0.373			NA											4	86					0	0	0.000602	0	0
LAMA1	284217	broad.mit.edu	37	18	6986344	6986344	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:6986344G>T	uc002knm.2	-	37	5265	c.5171C>A	c.(5170-5172)GCT>GAT	p.A1724D	LAMA1_uc010wzj.1_Missense_Mutation_p.A1200D	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1724	Domain II and I.|Potential.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCTTCAGCAGCCCTGATAAA	0.363			NA											31	89					6.04164e-23	9.03423e-23	0.010818	1	0
RBBP8	5932	broad.mit.edu	37	18	20577615	20577615	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:20577615A>G	uc002ktw.2	+	14	2392	c.2061A>G	c.(2059-2061)ACA>ACG	p.T687T	RBBP8_uc002kty.2_Silent_p.T687T|RBBP8_uc002ktz.2_Silent_p.T687T|RBBP8_uc002kua.2_Silent_p.T687T|RBBP8_uc010xap.1_Silent_p.T20T	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	687					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GAGGAGAGACAGTGGACATGG	0.289			NA						Direct_reversal_of_damage|Homologous_recombination					6	7					0	0	0.00308	0	0
C18orf34	374864	broad.mit.edu	37	18	30913319	30913319	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:30913319C>A	uc002kxn.2	-	9	840	c.698G>T	c.(697-699)TGG>TTG	p.W233L	C18orf34_uc010xbr.1_Missense_Mutation_p.W233L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.W233L|C18orf34_uc002kxp.2_Missense_Mutation_p.W233L	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	233	Potential.									ovary(1)	1						TTCAAGATGCCATTGTAATTC	0.308			NA											8	53					0.000442599	0.00048504	0.006214	1	0
MBD1	4152	broad.mit.edu	37	18	47800612	47800612	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:47800612C>A	uc010dow.1	-	11	1527	c.1090G>T	c.(1090-1092)GGC>TGC	p.G364C	MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Missense_Mutation_p.G314C|MBD1_uc010xdi.1_Missense_Mutation_p.G415C|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_Missense_Mutation_p.G364C|MBD1_uc002lei.3_Missense_Mutation_p.G364C|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_Missense_Mutation_p.G315C|MBD1_uc002lel.3_Missense_Mutation_p.G341C|MBD1_uc002lem.3_Missense_Mutation_p.G364C|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_Missense_Mutation_p.G389C|MBD1_uc010dox.1_Missense_Mutation_p.G341C|MBD1_uc002leo.2_Missense_Mutation_p.G364C	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	364	CXXC-type 3.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TGGTTGCTGCCCCCGAATTTG	0.652			NA											46	56					3.21987e-24	4.86018e-24	0.01441	1	0
CDH7	1005	broad.mit.edu	37	18	63477091	63477091	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:63477091G>T	uc002ljz.2	+	3	687	c.362G>T	c.(361-363)CGA>CTA	p.R121L	CDH7_uc002lka.2_Missense_Mutation_p.R121L|CDH7_uc002lkb.2_Missense_Mutation_p.R121L	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	121	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TACACGCTCCGAGCTCAAGCG	0.493			NA											8	65					0.00307968	0.00330704	0.00308	1	0
CNDP1	84735	broad.mit.edu	37	18	72228242	72228242	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:72228242C>T	uc002llq.2	+	4	666	c.455C>T	c.(454-456)ACG>ATG	p.T152M	uc002llr.2_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	152					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TATGTGCTGACGGAGGTAGAC	0.627	Melanoma(32;1029 1042 25286 38395 44237)		NA											37	56					0	0	0.003755	0	0
FZR1	51343	broad.mit.edu	37	19	3525945	3525945	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:3525945C>A	uc010dtk.2	+	2	183	c.149C>A	c.(148-150)CCC>CAC	p.P50H	FZR1_uc002lxt.2_Missense_Mutation_p.P50H|FZR1_uc002lxv.2_Missense_Mutation_p.P50H	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	50					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTTCATCCCCTCCAGAGCC	0.667			NA											6	35					2.0095e-06	2.32144e-06	0.001984	1	0
PTPRS	5802	broad.mit.edu	37	19	5210581	5210581	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:5210581C>A	uc002mbv.2	-	35	5620	c.5386G>T	c.(5386-5388)GCC>TCC	p.A1796S	PTPRS_uc002mbu.1_Missense_Mutation_p.A1365S|PTPRS_uc010xin.1_Missense_Mutation_p.A1338S|PTPRS_uc002mbw.2_Missense_Mutation_p.A1758S|PTPRS_uc002mbx.2_Missense_Mutation_p.A1353S|PTPRS_uc002mby.2_Missense_Mutation_p.A1349S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1796	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GAGCGCTCGGCCGGCCAGTAC	0.607			NA											12	46					1.15088e-07	1.37418e-07	0.004007	1	0
TUBB4	10382	broad.mit.edu	37	19	6496231	6496231	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:6496231G>A	uc002mfg.1	-	4	386	c.279C>T	c.(277-279)GGC>GGT	p.G93G	TUBB4_uc002mff.1_Silent_p.G21G	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	93					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		CTCCGGATTGGCCTAGAGAGG	0.612			NA											32	31					0	0	0.013726	0	0
MUC16	94025	broad.mit.edu	37	19	9066581	9066581	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:9066581C>G	uc002mkp.2	-	3	21069	c.20865G>C	c.(20863-20865)GAG>GAC	p.E6955D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6957	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						AAATGCTGGTCTCTCTCAGTC	0.448			NA											20	234					0	0	0.007413	0	0
FDX1L	112812	broad.mit.edu	37	19	10421173	10421173	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:10421173T>C	uc002mny.1	-	5	560	c.541A>G	c.(541-543)AAG>GAG	p.K181E	ZGLP1_uc002mnw.3_5'Flank|FDX1L_uc002mnx.1_RNA	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like precursor	181					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CAGTGGGGCTTGGGGACATGG	0.612			NA											5	62					0	0	0.001168	0	0
FDX1L	112812	broad.mit.edu	37	19	10421195	10421195	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:10421195G>C	uc002mny.1	-	5	538	c.519C>G	c.(517-519)TTC>TTG	p.F173L	ZGLP1_uc002mnw.3_5'Flank|FDX1L_uc002mnx.1_RNA	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like precursor	173					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CATCCACGTAGAAGTTCCTGG	0.607			NA											6	60					0	0	0.001984	0	0
KRI1	65095	broad.mit.edu	37	19	10665777	10665777	+	Silent	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:10665777T>G	uc002moy.1	-	18	1794	c.1785A>C	c.(1783-1785)TCA>TCC	p.S595S	KRI1_uc002mow.1_Silent_p.S214S|KRI1_uc002mox.1_Silent_p.S591S	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	595										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ctCGGCAGAGTGACTTGAAGA	0.328			NA											4	67					0	0	0.009096	0	0
CASP14	23581	broad.mit.edu	37	19	15164396	15164396	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:15164396G>A	uc010dzv.1	+	3	439	c.131G>A	c.(130-132)CGG>CAG	p.R44Q	CASP14_uc002naf.2_Missense_Mutation_p.R44Q	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	44					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			skin(2)|ovary(1)|lung(1)	4						CACATGTTTCGGCAGCTGAGA	0.527			NA											25	103					0	0	0.008361	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728561	20728561	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:20728561A>C	uc002npa.2	-	4	628	c.448T>G	c.(448-450)TAT>GAT	p.Y150D		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	150					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						ACTTTCACATATTTATCACAC	0.299			NA											6	26					0	0	0.001984	0	0
ZNF98	148198	broad.mit.edu	37	19	22605017	22605017	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:22605017G>T	uc002nqt.2	-	1	132	c.10C>A	c.(10-12)CCC>ACC	p.P4T		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CTTCCAAGGGGTCCTGGCATC	0.597			NA											20	118					6.44725e-10	8.15463e-10	0.014323	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39907024	39907024	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:39907024C>T	uc010xuz.1	+	5	841	c.516C>T	c.(514-516)GCC>GCT	p.A172A	PLEKHG2_uc010xuy.1_Silent_p.A113A|PLEKHG2_uc002olj.2_Silent_p.A172A|PLEKHG2_uc010xva.1_5'UTR	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	172	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCAGCGCCGGGGGTATTG	0.667			NA											13	152					0	0	0.00245	0	0
PSG8	440533	broad.mit.edu	37	19	43262242	43262242	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:43262242G>T	uc002ouo.2	-	3	719	c.621C>A	c.(619-621)GTC>GTA	p.V207V	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Silent_p.V46V|PSG8_uc002ouh.2_Silent_p.V207V|PSG8_uc010ein.2_Silent_p.V85V|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Silent_p.V46V|PSG8_uc002oul.3_Silent_p.V207V|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	207	Ig-like C2-type 1.					extracellular region					0		Prostate(69;0.00899)				TGTACTTTGTGACACCCAATA	0.512			NA											157	187					1.34836e-70	2.31975e-70	0.01441	1	0
ZFP112	7771	broad.mit.edu	37	19	44832283	44832283	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:44832283G>A	uc010ejj.2	-	5	2158	c.2045C>T	c.(2044-2046)GCC>GTC	p.A682V	ZFP112_uc002ozc.3_Missense_Mutation_p.A676V|ZFP112_uc010xwy.1_Missense_Mutation_p.A699V|ZFP112_uc010xwz.1_Missense_Mutation_p.A681V	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	682	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						CCTCTGATGGGCCAAAAGTGT	0.438	Melanoma(53;975 1202 7512 15993 27273)		NA											4	80					0	0	0.009096	0	0
ZNF615	284370	broad.mit.edu	37	19	52497466	52497466	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:52497466T>C	uc002pye.1	-	6	1155	c.863A>G	c.(862-864)TAC>TGC	p.Y288C	ZNF615_uc002pyf.1_Missense_Mutation_p.Y299C|ZNF615_uc002pyg.1_Missense_Mutation_p.Y180C|ZNF615_uc002pyh.1_Missense_Mutation_p.Y299C|ZNF615_uc010epi.1_Missense_Mutation_p.Y295C|ZNF615_uc010ydg.1_Missense_Mutation_p.Y293C	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	288	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCTACATGTGTAAGGTTTCCC	0.408			NA											7	166					0	0	0.00308	0	0
LILRB2	10288	broad.mit.edu	37	19	54782221	54782221	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:54782221C>T	uc002qfb.2	-	7	1417	c.1151G>A	c.(1150-1152)AGT>AAT	p.S384N	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.S384N|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.S384N|LILRB2_uc010yet.1_Missense_Mutation_p.S268N|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	384	Extracellular (Potential).|Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCACAGGACTCATGGGGAA	0.577			NA											35	149					0	0	0.004289	0	0
BRSK1	84446	broad.mit.edu	37	19	55814218	55814218	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:55814218C>A	uc002qkg.2	+	10	1288	c.1011C>A	c.(1009-1011)CGC>CGA	p.R337R	BRSK1_uc002qkf.2_Silent_p.R353R|BRSK1_uc002qkh.2_Silent_p.R32R	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	337	UBA.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGCTGCATCGCGAGCTGCGCA	0.657			NA											31	41					1.06801e-11	1.41811e-11	0.009535	1	0
NLRP5	126206	broad.mit.edu	37	19	56539603	56539603	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:56539603G>T	uc002qmj.2	+	7	2004	c.2004G>T	c.(2002-2004)TGG>TGT	p.W668C	NLRP5_uc002qmi.2_Missense_Mutation_p.W649C	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	668						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCTGCACTGGGTCTCTCTGT	0.572			NA											35	48					9.8876e-21	1.4382e-20	0.004878	1	0
ZNF419	79744	broad.mit.edu	37	19	58005275	58005275	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:58005275T>G	uc002qov.2	+	5	1590	c.1350T>G	c.(1348-1350)ATT>ATG	p.I450M	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.I451M|ZNF419_uc010etz.1_Missense_Mutation_p.I438M|ZNF419_uc010eua.1_Missense_Mutation_p.I437M|ZNF419_uc002qow.2_Missense_Mutation_p.I418M|ZNF419_uc010eub.1_Missense_Mutation_p.I405M|ZNF419_uc010euc.1_Missense_Mutation_p.I404M	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAGTTCACATTGGAGAAAAGC	0.428			NA											3	175					0	0	0.009096	0	0
TRIM28	10155	broad.mit.edu	37	19	59060467	59060467	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:59060467G>C	uc002qtg.1	+	12	1811	c.1522G>C	c.(1522-1524)GTC>CTC	p.V508L	TRIM28_uc010eut.1_Missense_Mutation_p.V426L|TRIM28_uc002qth.1_Missense_Mutation_p.V123L	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	508	HP1 box.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CGTCTTCAAGGTCTTCCCAGG	0.612			NA											31	35					0	0	0.008361	0	0
KCNS3	3790	broad.mit.edu	37	2	18113214	18113214	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:18113214A>G	uc002rcv.2	+	3	1390	c.939A>G	c.(937-939)CTA>CTG	p.L313L	KCNS3_uc002rcw.2_Silent_p.L313L	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	313	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCGGTCTCTAGGTGCCACAC	0.498			NA											17	242					0	0	0.004007	0	0
ATAD2B	54454	broad.mit.edu	37	2	23980357	23980357	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:23980357A>T	uc002rek.3	-	25	4303	c.4009T>A	c.(4009-4011)TGT>AGT	p.C1337S	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.C577S|ATAD2B_uc002rej.3_Missense_Mutation_p.C505S	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1337							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTATTGCTACATTCCAGTGCC	0.378			NA											48	140					0	0	0.01441	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44023920	44023921	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:44023920_44023921GG>CT	uc002rtk.2	+	8	736_737	c.640_641GG>CT	c.(640-642)GGA>CTA	p.G214L	DYNC2LI1_uc002rtj.2_Missense_Mutation_p.G214L|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.G215L|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.G88L	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	214						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACATTATTATGGAGCATCATTA	0.356			NA											16	44					0	0	0.004672	0	0
C2orf34	79823	broad.mit.edu	37	2	44970769	44970769	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:44970769G>A	uc002rum.2	+	8	736	c.632G>A	c.(631-633)CGA>CAA	p.R211Q		NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN	hypothetical protein LOC79823	211						cytoplasm	calmodulin-lysine N-methyltransferase activity				0		all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17)				AGCGTTTTACGATGGGATAAT	0.308			NA											4	48					0	0	0.009096	0	0
PSME4	23198	broad.mit.edu	37	2	54120044	54120044	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:54120044T>A	uc002rxp.2	-	36	4148	c.4092A>T	c.(4090-4092)TTA>TTT	p.L1364F	PSME4_uc010yop.1_Missense_Mutation_p.L1250F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.L739F|PSME4_uc010fbv.1_Missense_Mutation_p.L508F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1364	HEAT 4.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCAAATGTTCTAAATGGGGCT	0.393			NA											28	65					0	0	0.012213	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561797	55561797	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:55561797C>A	uc002ryv.2	-	15	3002	c.2160G>T	c.(2158-2160)ATG>ATT	p.M720I	CCDC88A_uc010yoz.1_Missense_Mutation_p.M720I|CCDC88A_uc010ypa.1_Missense_Mutation_p.M720I|CCDC88A_uc010ypb.1_Missense_Mutation_p.M622I|CCDC88A_uc002ryu.2_Missense_Mutation_p.M3I|CCDC88A_uc002ryw.2_Missense_Mutation_p.M3I	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	720	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						GTAGCTGAGCCATTTTCATGC	0.388			NA											22	61					2.39556e-15	3.34751e-15	0.00278	1	0
ADD2	119	broad.mit.edu	37	2	70906031	70906031	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:70906031A>T	uc002sgz.2	-	11	1653	c.1188T>A	c.(1186-1188)AGT>AGA	p.S396R	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.S396R|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.S396R|ADD2_uc010fdt.1_Missense_Mutation_p.S396R|ADD2_uc002shc.1_Missense_Mutation_p.S396R|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.S412R	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	396					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						TCTCCACCTCACTTTTGTGTT	0.527			NA											28	111					0	0	0.008361	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043658	71043658	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:71043658G>C	uc002shf.2	-	4	932	c.855C>G	c.(853-855)ATC>ATG	p.I285M	CLEC4F_uc010yqv.1_Missense_Mutation_p.I285M	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	285	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						TTAGTCCCTGGATCTCAGCAT	0.418	Colon(107;10 2157 6841 26035)		NA											69	138					0	0	0.01441	0	0
EPB41L5	57669	broad.mit.edu	37	2	120849214	120849214	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:120849214C>G	uc002tmg.2	+	13	1253	c.1127C>G	c.(1126-1128)TCT>TGT	p.S376C	EPB41L5_uc010flk.2_Missense_Mutation_p.S376C|EPB41L5_uc010fll.2_Missense_Mutation_p.S376C|EPB41L5_uc002tmh.3_Missense_Mutation_p.S376C|EPB41L5_uc010flm.2_Missense_Mutation_p.S180C	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	376						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						AAACGATATTCTAGACGAACT	0.378			NA											23	33					0	0	0.004656	0	0
YSK4	80122	broad.mit.edu	37	2	135745193	135745193	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:135745193A>T	uc002tue.1	-	7	1280	c.1249T>A	c.(1249-1251)TCA>ACA	p.S417T	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.S304T|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.S145T|YSK4_uc002tui.3_Missense_Mutation_p.S434T	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	417							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACTCTTTTTGAAGCAGCTTTA	0.343			NA											28	120					0	0	0.00632	0	0
LRP1B	53353	broad.mit.edu	37	2	141986802	141986802	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:141986802G>T	uc002tvj.1	-	6	1772	c.800C>A	c.(799-801)GCA>GAA	p.A267E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	267	Extracellular (Potential).|LDL-receptor class B 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAATCCTCCTGCTTTTGTTAT	0.294	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			12	67					2.80697e-09	3.46808e-09	0.010729	1	0
PDE11A	50940	broad.mit.edu	37	2	178879143	178879143	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:178879143C>A	uc002ulq.2	-	2	1275	c.957G>T	c.(955-957)AAG>AAT	p.K319N	PDE11A_uc002ulr.2_Missense_Mutation_p.K69N|PDE11A_uc002ult.1_Missense_Mutation_p.K69N	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	319	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATGATTTTGTCTTGTATCCAG	0.403			NA							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				8	53					4.68919e-08	5.70548e-08	0.008291	1	0
TTN	7273	broad.mit.edu	37	2	179395969	179395969	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:179395969T>C	uc010zfg.1	-	307	97893	c.97669A>G	c.(97669-97671)ACG>GCG	p.T32557A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T26252A|TTN_uc010zfi.1_Missense_Mutation_p.T26185A|TTN_uc010zfj.1_Missense_Mutation_p.T26060A|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33484							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAAAGTCGTCTTGATCTTT	0.463			NA											103	170					0	0	0.01441	0	0
TTN	7273	broad.mit.edu	37	2	179575399	179575399	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:179575399C>A	uc010zfg.1	-	95	24917	c.24693G>T	c.(24691-24693)GTG>GTT	p.V8231V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V4892V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9158							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCTTTTCCCACTTCATTCA	0.403			NA											5	151					3.59834e-05	4.02611e-05	0.001168	1	0
TTN	7273	broad.mit.edu	37	2	179614294	179614294	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:179614294T>G	uc002unb.2	-	46	13057	c.12833A>C	c.(12832-12834)CAG>CCG	p.Q4278P	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATTCTCCCTGGTCTTGCAG	0.373			NA											6	69					0	0	0.001984	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798422	185798422	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:185798422C>A	uc002uph.2	+	3	942	c.348C>A	c.(346-348)CGC>CGA	p.R116R		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	116						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						CACTCCAACGCCTGCACAAGC	0.403			NA											7	34					0.00198382	0.00213745	0.001984	1	0
COL3A1	1281	broad.mit.edu	37	2	189873816	189873816	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:189873816C>A	uc002uqj.1	+	48	3809	c.3692C>A	c.(3691-3693)ACC>AAC	p.T1231N		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1231					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAATCAACACCGATGAGATT	0.458			NA											36	147					4.00102e-26	6.12596e-26	0.00623	1	0
FAM134A	79137	broad.mit.edu	37	2	220045854	220045854	+	Missense_Mutation	SNP	G	G	T	rs149941380	byFrequency	TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:220045854G>T	uc002vjw.3	+	6	847	c.711G>T	c.(709-711)GAG>GAT	p.E237D	FAM134A_uc010fwc.2_Missense_Mutation_p.E30D|FAM134A_uc002vjx.2_Missense_Mutation_p.E30D	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	237						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCGCCTGGAGCCCCTGCTCA	0.542			NA											23	126					7.87624e-14	1.07709e-13	0.00278	1	0
OBSL1	23363	broad.mit.edu	37	2	220434961	220434961	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:220434961C>A	uc010fwk.2	-	1	1051	c.994G>T	c.(994-996)GTG>TTG	p.V332L	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.V332L|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	332					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGCAGCTGCACGGCACTGAGC	0.692			NA											11	15					3.07112e-06	3.52243e-06	0.010729	1	0
ALPI	248	broad.mit.edu	37	2	233322813	233322813	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:233322813A>G	uc002vst.3	+	8	1039	c.962A>G	c.(961-963)AAC>AGC	p.N321S	ALPI_uc002vsu.3_Missense_Mutation_p.N232S	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	321					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTGAGCAGGAACCCCCGCGGC	0.647			NA											10	43					0	0	0.006122	0	0
INPP5D	3635	broad.mit.edu	37	2	234106843	234106843	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:234106843C>T	uc010zmo.1	+	24	2949	c.2796C>T	c.(2794-2796)ACC>ACT	p.T932T	INPP5D_uc010zmp.1_Silent_p.T931T	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	932	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGCAGACCTTGTCCCCTG	0.647	NSCLC(82;1215 1426 16163 20348 41018)		NA											5	40					0	0	0.001984	0	0
COL6A3	1293	broad.mit.edu	37	2	238234302	238234302	+	Missense_Mutation	SNP	G	G	A	rs147533489	byFrequency	TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:238234302G>A	uc002vwl.2	-	43	9679	c.9394C>T	c.(9394-9396)CCA>TCA	p.P3132S	COL6A3_uc002vwo.2_Missense_Mutation_p.P2926S|COL6A3_uc010znj.1_Missense_Mutation_p.P2525S|COL6A3_uc002vwj.2_Missense_Mutation_p.P513S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	3132	Nonhelical region.|BPTI/Kunitz inhibitor.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGGTGTTTGGATCATAGTAC	0.373			NA											26	184					0	0	0.00632	0	0
ENTPD6	955	broad.mit.edu	37	20	25199194	25199194	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:25199194G>T	uc002wuj.2	+	10	1067	c.887G>T	c.(886-888)GGG>GTG	p.G296V	ENTPD6_uc010zsy.1_Missense_Mutation_p.G296V|ENTPD6_uc010gdj.1_Missense_Mutation_p.G268V|ENTPD6_uc010zsz.1_Missense_Mutation_p.G78V|ENTPD6_uc002wum.2_Missense_Mutation_p.G279V|ENTPD6_uc010zta.1_Missense_Mutation_p.G296V|ENTPD6_uc002wun.2_Missense_Mutation_p.G296V|ENTPD6_uc002wuk.2_Missense_Mutation_p.G295V|ENTPD6_uc002wul.2_Missense_Mutation_p.G295V|ENTPD6_uc010ztb.1_Missense_Mutation_p.G268V|ENTPD6_uc010ztc.1_Missense_Mutation_p.G268V|ENTPD6_uc002wuo.2_Missense_Mutation_p.G48V|ENTPD6_uc010ztd.1_Missense_Mutation_p.G78V	NM_001247	NP_001238	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6	296	Lumenal (Potential).					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity				0						AGCTACCTCGGGCTCGGGCTG	0.667			NA											5	6					3.59834e-05	4.02611e-05	0.001168	1	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:29628243T>C	uc010ztl.1	+	3	187	c.155T>C	c.(154-156)TTG>TCG	p.L52S	FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						ATGGCTTTGTTGGCCTCAAAT	0.353			NA											4	113					0	0	0.00308	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:29628263A>G	uc010ztl.1	+	3	207	c.175A>G	c.(175-177)ATT>GTT	p.I59V	FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						TAGCTGCTTTATTAGATGCAA	0.363			NA											6	102					0	0	0.004482	0	0
XKR7	343702	broad.mit.edu	37	20	30584719	30584719	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:30584719G>A	uc002wxe.2	+	3	1373	c.1199G>A	c.(1198-1200)GGC>GAC	p.G400D		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	400	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCGCTCACCGGCTTCTGGTAC	0.582			NA											13	68					0	0	0.013537	0	0
STAU1	6780	broad.mit.edu	37	20	47770537	47770537	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:47770537C>A	uc002xud.2	-	4	688	c.277G>T	c.(277-279)GTT>TTT	p.V93F	STAU1_uc002xua.2_Missense_Mutation_p.V12F|STAU1_uc002xub.2_Missense_Mutation_p.V12F|STAU1_uc002xuc.2_Missense_Mutation_p.V12F|STAU1_uc002xue.2_Missense_Mutation_p.V12F|STAU1_uc002xuf.2_Missense_Mutation_p.V12F|STAU1_uc002xug.2_Missense_Mutation_p.V93F	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	93	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TAAGGGTCAACAGGCTTATAC	0.378			NA											83	61					2.84431e-33	4.52825e-33	0.01441	1	0
LAMA5	3911	broad.mit.edu	37	20	60927018	60927018	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:60927018G>T	uc002ycq.2	-	5	872	c.805C>A	c.(805-807)CTG>ATG	p.L269M		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	269	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCCCAGCAGCGTGTTGGTA	0.687			NA											19	7					5.45024e-15	7.55012e-15	0.00333	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28337760	28337760	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:28337760C>A	uc002ymg.2	-	1	1680	c.951G>T	c.(949-951)AAG>AAT	p.K317N		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	317	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GCACCACCACCTTCACCACGG	0.587	Esophageal Squamous(53;683 1080 10100 14424 45938)		NA											9	138					3.09899e-07	3.65932e-07	0.004482	1	0
TIAM1	7074	broad.mit.edu	37	21	32638630	32638630	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:32638630G>T	uc002yow.1	-	5	1131	c.659C>A	c.(658-660)CCG>CAG	p.P220Q	TIAM1_uc011adk.1_Missense_Mutation_p.P220Q|TIAM1_uc011adl.1_Missense_Mutation_p.P220Q|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	220					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						GAGCTGCCGCGGACTCGCCCG	0.552			NA											44	49					1.17253e-29	1.83029e-29	0.01441	1	0
C2CD2	25966	broad.mit.edu	37	21	43319393	43319393	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:43319393C>A	uc002yzw.2	-	13	1881	c.1639G>T	c.(1639-1641)GCC>TCC	p.A547S	C2CD2_uc002yzs.2_Missense_Mutation_p.A16S|C2CD2_uc002yzt.2_Missense_Mutation_p.A163S|C2CD2_uc002yzu.2_Missense_Mutation_p.A379S|C2CD2_uc002yzv.2_Missense_Mutation_p.A392S	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	547						cytosol|extracellular region|nucleus				ovary(1)	1						TGGGATGGGGCGTCCTCCTGG	0.667			NA											12	20					1.67942e-08	2.05905e-08	0.006122	1	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067170	46067170	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:46067170C>A	uc002zfr.3	+	1	840	c.795C>A	c.(793-795)TCC>TCA	p.S265S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198692	NP_941965	P60412	KR10B_HUMAN	keratin associated protein 10-11	265	25 X 5 AA repeats of C-C-X(3).					keratin filament				ovary(1)	1						CCTGCCAGTCCAGCTGCTGCC	0.692			NA											26	14					3.21987e-24	4.86018e-24	0.01441	1	0
MCM3AP	8888	broad.mit.edu	37	21	47655246	47655246	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:47655246G>A	uc002zir.1	-	28	5915	c.5879C>T	c.(5878-5880)TCA>TTA	p.S1960L	MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.S455L|MCM3AP_uc002zip.1_Missense_Mutation_p.S701L|MCM3AP_uc002ziq.1_Missense_Mutation_p.S887L|MCM3APAS_uc002zis.1_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1960					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CTCTTCCCTTGAACTCCGGAT	0.552			NA											31	18					0	0	0.008361	0	0
PRAME	23532	broad.mit.edu	37	22	22893228	22893228	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr22:22893228T>A	uc002zwf.2	-	3	461	c.305A>T	c.(304-306)GAT>GTT	p.D102V	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.D86V|PRAME_uc010gtr.2_Missense_Mutation_p.D102V|PRAME_uc002zwg.2_Missense_Mutation_p.D102V|PRAME_uc002zwh.2_Missense_Mutation_p.D102V|PRAME_uc002zwi.2_Missense_Mutation_p.D102V|PRAME_uc002zwj.2_Missense_Mutation_p.D102V|PRAME_uc002zwk.2_Missense_Mutation_p.D102V	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	102					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATCAAGTCCATCAAGCACAGC	0.597	Melanoma(73;1707 1838 15168 27201)		NA											26	117					0	0	0.003954	0	0
FBLN2	2199	broad.mit.edu	37	3	13659609	13659609	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:13659609T>A	uc011avb.1	+	6	1888	c.1763T>A	c.(1762-1764)CTG>CAG	p.L588Q	FBLN2_uc011auz.1_Missense_Mutation_p.L614Q|FBLN2_uc011ava.1_Missense_Mutation_p.L588Q|FBLN2_uc011avc.1_Missense_Mutation_p.L588Q	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	588						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGAGAGGCCCTGTCACTGGGC	0.617			NA											39	62					0	0	0.01441	0	0
EPHA6	285220	broad.mit.edu	37	3	97356765	97356765	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:97356765G>A	uc010how.1	+	14	2666	c.2623G>A	c.(2623-2625)GGC>AGC	p.G875S	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.G267S|EPHA6_uc003drr.3_Missense_Mutation_p.G267S|EPHA6_uc003drt.2_Missense_Mutation_p.G267S|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	780	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						AATGCTCCGAGGCATTGCATC	0.423			NA											22	73					0	0	0.003954	0	0
TAGLN3	29114	broad.mit.edu	37	3	111718394	111718394	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:111718394T>C	uc003dym.2	+	2	503	c.125T>C	c.(124-126)ATA>ACA	p.I42T	TAGLN3_uc003dyl.2_Missense_Mutation_p.I42T|TAGLN3_uc003dyn.2_Missense_Mutation_p.I42T|TAGLN3_uc003dyo.2_Missense_Mutation_p.I42T	NM_001008272	NP_001008273	Q9UI15	TAGL3_HUMAN	transgelin 3	42	CH.				central nervous system development|muscle organ development						0						GCCGAGGACATAGAGCACCCG	0.607			NA											16	54					0	0	0.012319	0	0
TIGIT	201633	broad.mit.edu	37	3	114014579	114014579	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:114014579T>A	uc003ebg.1	+	2	283	c.249T>A	c.(247-249)GAT>GAA	p.D83E		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	83	Extracellular (Potential).|Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)	1						CCTTCAAGGATCGAGTGGCCC	0.592			NA											17	55					0	0	0.004007	0	0
ATP2C1	27032	broad.mit.edu	37	3	130682828	130682828	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:130682828G>A	uc003enl.2	+	13	1135	c.913G>A	c.(913-915)GCA>ACA	p.A305T	ATP2C1_uc011blg.1_Missense_Mutation_p.A339T|ATP2C1_uc011blh.1_Missense_Mutation_p.A300T|ATP2C1_uc011bli.1_Missense_Mutation_p.A339T|ATP2C1_uc003enk.2_Missense_Mutation_p.A289T|ATP2C1_uc003enm.2_Missense_Mutation_p.A305T|ATP2C1_uc003enn.2_Missense_Mutation_p.A289T|ATP2C1_uc003eno.2_Missense_Mutation_p.A305T|ATP2C1_uc003enp.2_Missense_Mutation_p.A305T|ATP2C1_uc003enq.2_Missense_Mutation_p.A305T|ATP2C1_uc003enr.2_Missense_Mutation_p.A305T|ATP2C1_uc003ens.2_Missense_Mutation_p.A305T|ATP2C1_uc003ent.2_Missense_Mutation_p.A305T|ATP2C1_uc003enu.2_5'UTR	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	305	Helical; Name=4; (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GGCTGTAGCAGCAATTCCTGA	0.378	Esophageal Squamous(99;456 1443 27647 34099 42636)		NA							Hailey-Hailey_disease				16	64					0	0	0.00499	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721504	135721504	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:135721504A>G	uc003eqv.1	+	2	1729	c.1164A>G	c.(1162-1164)CTA>CTG	p.L388L	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	388					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						CTAGAACTCTAAAAGCTGTCC	0.358			NA											19	31					0	0	0.014323	0	0
DBR1	51163	broad.mit.edu	37	3	137881363	137881363	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:137881363G>A	uc003erv.2	-	8	1139	c.1003C>T	c.(1003-1005)CTC>TTC	p.L335F	DBR1_uc003eru.2_Missense_Mutation_p.L284F|DBR1_uc003ert.2_Missense_Mutation_p.L103F	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	335						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						GGAACCTTGAGATCATGATTC	0.353			NA											21	93					0	0	0.010504	0	0
AFAP1	60312	broad.mit.edu	37	4	7857263	7857263	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:7857263G>A	uc003gkg.1	-	4	537	c.264C>T	c.(262-264)TCC>TCT	p.S88S	AFAP1_uc011bwk.1_Silent_p.S88S	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	88	Pro-rich.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						CTTCTGGGAGGGAGGATGTTG	0.517			NA											8	56					0	0	0.010729	0	0
GABRB1	2560	broad.mit.edu	37	4	47408881	47408881	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:47408881G>C	uc003gxh.2	+	8	1392	c.1018G>C	c.(1018-1020)GGA>CGA	p.G340R	GABRB1_uc011bze.1_Missense_Mutation_p.G270R	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	340	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCAGAAAAAGGGAGCTAGCAA	0.373			NA											18	75					0	0	0.008871	0	0
ATP10D	57205	broad.mit.edu	37	4	47565645	47565645	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:47565645A>T	uc003gxk.1	+	15	2880	c.2716A>T	c.(2716-2718)ATA>TTA	p.I906L	ATP10D_uc003gxl.1_Missense_Mutation_p.I154L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	906	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						CCCTGAATCTATAGAAGCTCT	0.473			NA											15	83					0	0	0.00245	0	0
AASDH	132949	broad.mit.edu	37	4	57217624	57217624	+	Splice_Site	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:57217624C>T	uc003hbn.2	-	10	1730	c.1577_splice	c.e10-1	p.G526_splice	AASDH_uc010ihb.2_Splice_Site_p.G41_splice|AASDH_uc011caa.1_Splice_Site_p.G373_splice|AASDH_uc003hbo.2_Splice_Site_p.G426_splice|AASDH_uc011cab.1_Splice_Site_p.G41_splice|AASDH_uc010ihc.2_Splice_Site_p.G526_splice|AASDH_uc003hbp.2_Splice_Site_p.G526_splice	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase						fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCAATTTTGCCTTAATATAAA	0.264			NA											15	26					0	0	0.003163	0	0
PDHA2	5161	broad.mit.edu	37	4	96762282	96762282	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:96762282C>A	uc003htr.3	+	1	1044	c.981C>A	c.(979-981)CTC>CTA	p.L327L		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	327					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACAGCAAGCTCGCCACTGTGG	0.428			NA											35	56					4.0306e-16	5.6819e-16	0.01441	1	0
ANK2	287	broad.mit.edu	37	4	114254323	114254323	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:114254323C>A	uc003ibe.3	+	29	3438	c.3338C>A	c.(3337-3339)ACT>AAT	p.T1113N	ANK2_uc003ibd.3_Missense_Mutation_p.T1104N|ANK2_uc003ibf.3_Missense_Mutation_p.T1113N|ANK2_uc011cgc.1_Missense_Mutation_p.T289N|ANK2_uc003ibg.3_Missense_Mutation_p.T108N|ANK2_uc003ibc.2_Missense_Mutation_p.T1089N|ANK2_uc011cgb.1_Missense_Mutation_p.T1128N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1080	Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTGACTACACTGAAGATGAA	0.433			NA											51	50					1.15193e-12	1.54233e-12	0.01441	1	0
MMAA	166785	broad.mit.edu	37	4	146560391	146560391	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:146560391C>G	uc003ikh.3	+	2	185	c.100C>G	c.(100-102)CTC>GTC	p.L34V	MMAA_uc003ikg.2_Missense_Mutation_p.L34V|MMAA_uc003iki.1_RNA|MMAA_uc010iow.2_RNA	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria type A precursor	34						mitochondrion	GTP binding|nucleoside-triphosphatase activity			ovary(1)	1	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGTACTCATCTCGGATCAGG	0.438			NA											5	194					0	0	0.000602	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160275067	160275067	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:160275067G>T	uc003iqg.3	+	22	4347	c.4037G>T	c.(4036-4038)CGG>CTG	p.R1346L		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1346					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ACAATAAAGCGGAGGGGTGGA	0.537			NA											34	30					2.47316e-13	3.32525e-13	0.003271	1	0
MARCH6	10299	broad.mit.edu	37	5	10411648	10411648	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:10411648G>A	uc003jet.1	+	19	2078	c.1895G>A	c.(1894-1896)AGG>AAG	p.R632K	MARCH6_uc011cmu.1_Missense_Mutation_p.R584K|MARCH6_uc003jeu.1_Missense_Mutation_p.R330K|MARCH6_uc011cmv.1_Missense_Mutation_p.R527K	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	632	Cytoplasmic (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						TTTCCACTCAGGGTAGGTGCT	0.463			NA											10	38					0	0	0.001855	0	0
CTNND2	1501	broad.mit.edu	37	5	11159798	11159798	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:11159798G>T	uc003jfa.1	-	12	2194	c.2049C>A	c.(2047-2049)ACC>ACA	p.T683T	CTNND2_uc010itt.2_Silent_p.T592T|CTNND2_uc011cmy.1_Silent_p.T346T|CTNND2_uc011cmz.1_Silent_p.T250T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.T250T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	683	ARM 5.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TCACCGCGTTGGTCAGTACTG	0.507			NA											23	114					7.87624e-14	1.07709e-13	0.00278	1	0
SKP2	6502	broad.mit.edu	37	5	36183971	36183971	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:36183971G>T	uc003jkd.2	+	10	1267	c.1091G>T	c.(1090-1092)CGG>CTG	p.R364L		NM_032637	NP_116026	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 2	Error:Variant_position_missing_in_Q13309_after_alignment					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTAGGATCCGGTTGGACTCT	0.368			NA											18	97					4.96729e-08	6.02096e-08	0.008871	1	0
PPWD1	23398	broad.mit.edu	37	5	64875260	64875260	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:64875260G>A	uc003jtv.3	+	7	1177	c.1170G>A	c.(1168-1170)CGG>CGA	p.R390R	PPWD1_uc011cqv.1_Silent_p.R360R|PPWD1_uc011cqw.1_Silent_p.R234R	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	390					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GGTGTGTGCGGATTTTAGGCA	0.348			NA											5	41					0	0	0.001984	0	0
PCDHA10	56139	broad.mit.edu	37	5	140235739	140235739	+	Missense_Mutation	SNP	G	G	A	rs147800828		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140235739G>A	uc003lhx.2	+	1	106	c.106G>A	c.(106-108)GAG>AAG	p.E36K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.E36K|PCDHA10_uc011dad.1_Missense_Mutation_p.E36K	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	36	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGTCTACGAGGAGGCCAG	0.662			NA											25	74					0	0	0.009535	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554630	140554630	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140554630C>G	uc003lit.2	+	1	2388	c.2214C>G	c.(2212-2214)AGC>AGG	p.S738R	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	738	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACTTGAGCGGCACCGGGA	0.617			NA											31	145					0	0	0.010818	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562314	140562314	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140562314C>A	uc003liv.2	+	1	1335	c.180C>A	c.(178-180)TCC>TCA	p.S60S	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	60	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAGATGTCCACCCGCAAGG	0.517			NA											9	126					2.17888e-05	2.46375e-05	0.006214	1	0
PCDHB10	56126	broad.mit.edu	37	5	140573632	140573632	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140573632C>A	uc003lix.2	+	1	1681	c.1507C>A	c.(1507-1509)CTG>ATG	p.L503M		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	503	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGCCTCCCTGGTCTCCAT	0.682			NA											8	163					3.09899e-07	3.65932e-07	0.004482	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720308	140720308	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140720308G>T	uc003ljk.1	+	1	1955	c.1770G>T	c.(1768-1770)AAG>AAT	p.K590N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.K590N	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	590	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGACCAAGGTGGTGGCGG	0.672			NA											45	95					7.77092e-38	1.27523e-37	0.01441	1	0
ARHGEF37	389337	broad.mit.edu	37	5	149008426	149008426	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:149008426G>A	uc003lra.1	+	12	1779	c.1715G>A	c.(1714-1716)AGT>AAT	p.S572N		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	572					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						GTGGTCCCCAGTGCAGAGGAG	0.602			NA											7	23					0	0	0.001984	0	0
GABRA6	2559	broad.mit.edu	37	5	161128675	161128675	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:161128675T>G	uc003lyu.2	+	9	1596	c.1258T>G	c.(1258-1260)TAT>GAT	p.Y420D	GABRA6_uc003lyv.2_Missense_Mutation_p.Y191D	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	420	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AATAGACCAGTATTCTCGAAT	0.468			NA								TCGA Ovarian(5;0.080)			40	44					0	0	0.00874	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765673	171765673	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:171765673C>T	uc003mbr.2	-	13	2607	c.2436G>A	c.(2434-2436)TTG>TTA	p.L812L		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	812					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTGGCCCCCCAAAGAGTTGG	0.612			NA											4	27					0	0	0.009096	0	0
CNOT6	57472	broad.mit.edu	37	5	179996154	179996154	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:179996154G>T	uc003mlx.2	+	10	1421	c.1072G>T	c.(1072-1074)GCT>TCT	p.A358S	CNOT6_uc010jld.2_Missense_Mutation_p.A358S|CNOT6_uc010jle.2_Missense_Mutation_p.A353S	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	358					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding				0	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TATTCTTGTGGCTAACGCCCA	0.413			NA											14	80					2.32078e-09	2.88969e-09	0.003163	1	0
CDYL	9425	broad.mit.edu	37	6	4892352	4892352	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:4892352G>T	uc003mwi.2	+	4	723	c.592G>T	c.(592-594)GTG>TTG	p.V198L	CDYL_uc003mwj.2_Missense_Mutation_p.V144L|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Missense_Mutation_p.V12L|CDYL_uc011dhy.1_Missense_Mutation_p.V12L	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	198					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CAAGATCCTCGTGCCTAAAAG	0.567			NA											40	78					1.07121e-22	1.59436e-22	0.006999	1	0
HIVEP1	3096	broad.mit.edu	37	6	12125456	12125456	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:12125456G>T	uc003nac.2	+	4	5607	c.5428G>T	c.(5428-5430)GGT>TGT	p.G1810C	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1810					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCCCCTGGACGGTGTGATGTT	0.393			NA											134	260					1.18489e-69	2.02762e-69	0.01441	1	0
TJAP1	93643	broad.mit.edu	37	6	43471199	43471199	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:43471199A>G	uc003ovd.2	+	9	824	c.448A>G	c.(448-450)AAG>GAG	p.K150E	TJAP1_uc003ovf.2_Missense_Mutation_p.K140E|TJAP1_uc003ove.2_Missense_Mutation_p.K140E|TJAP1_uc003ovc.2_Missense_Mutation_p.K140E|TJAP1_uc010jyp.2_Missense_Mutation_p.K109E|TJAP1_uc011dvh.1_Missense_Mutation_p.K140E|TJAP1_uc003ovg.2_Missense_Mutation_p.K16E|TJAP1_uc010jyq.2_3'UTR|TJAP1_uc011dvi.1_Missense_Mutation_p.K150E|TJAP1_uc011dvj.1_5'UTR|TJAP1_uc003ovi.2_Missense_Mutation_p.K16E	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 isoform a	150	Potential.					Golgi apparatus|tight junction	protein binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCTGACCAACAAGCTGCTGGA	0.527			NA											4	83					0	0	0.000602	0	0
GPR115	221393	broad.mit.edu	37	6	47682229	47682229	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:47682229G>T	uc003oza.1	+	6	1506	c.1248G>T	c.(1246-1248)TTG>TTT	p.L416F	GPR115_uc003oyz.1_Missense_Mutation_p.L473F|GPR115_uc003ozb.1_Missense_Mutation_p.L414F	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	416	Helical; Name=1; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						TCCTAAGCTTGGTTCTTTGCC	0.488	GBM(22;431 510 9010 26644 32828)		NA											49	122					1.56989e-16	2.23274e-16	0.01441	1	0
EYS	346007	broad.mit.edu	37	6	66063453	66063453	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:66063453G>T	uc011dxu.1	-	9	1895	c.1357C>A	c.(1357-1359)CTA>ATA	p.L453I	EYS_uc003peq.2_Missense_Mutation_p.L453I|EYS_uc003per.1_Missense_Mutation_p.L453I	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	453					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						TGATGAATTAGGTAAACATTC	0.373			NA											14	57					1.05317e-09	1.31646e-09	0.00245	1	0
PRSS35	167681	broad.mit.edu	37	6	84233922	84233922	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:84233922C>A	uc003pjz.2	+	2	925	c.762C>A	c.(760-762)GTC>GTA	p.V254V	PRSS35_uc010kbm.2_Silent_p.V254V	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	254	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGACCCGGGTCAAGAATACCC	0.562			NA											38	46					4.62619e-21	6.75973e-21	0.004289	1	0
HS3ST5	222537	broad.mit.edu	37	6	114379241	114379241	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:114379241C>A	uc003pwg.3	-	2	253	c.221G>T	c.(220-222)GGC>GTC	p.G74V	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.G74V	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	74	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGAAGCGTTGCCCTTCCGGAA	0.607			NA											14	57					9.31168e-06	1.0604e-05	0.001855	1	0
HEY2	23493	broad.mit.edu	37	6	126080924	126080924	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:126080924G>T	uc003qad.2	+	5	1181	c.990G>T	c.(988-990)TGG>TGT	p.W330C	HEY2_uc011ebr.1_Missense_Mutation_p.W284C	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	330	YRPW motif.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACCGACCCTGGGGGACAGAAG	0.493			NA											47	82					1.63429e-32	2.57622e-32	0.01441	1	0
VTA1	51534	broad.mit.edu	37	6	142468431	142468431	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:142468431G>T	uc003qiw.2	+	1	22	c.7G>T	c.(7-9)GCG>TCG	p.A3S	VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_5'UTR	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Vps20-associated 1 homolog	3	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding				0	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGAGATGGCCGCGCTTGCACC	0.617			NA									OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	34					1.12685e-05	1.2787e-05	0.004482	1	0
GRM1	2911	broad.mit.edu	37	6	146673535	146673535	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:146673535G>T	uc010khw.1	+	5	1806	c.1336G>T	c.(1336-1338)GAC>TAC	p.D446Y	GRM1_uc010khv.1_Missense_Mutation_p.D446Y|GRM1_uc003qll.2_Missense_Mutation_p.D446Y|GRM1_uc011edz.1_Missense_Mutation_p.D446Y|GRM1_uc011eea.1_Missense_Mutation_p.D446Y	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	446	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAAGCCCATCGACGGCAGCAA	0.552			NA											66	128					2.72615e-36	4.42827e-36	0.01441	1	0
C6orf97	80129	broad.mit.edu	37	6	151869438	151869438	+	Splice_Site	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:151869438G>T	uc003qol.2	+	5	678	c.589_splice	c.e5-1	p.L197_splice		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129												0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		TTTCTCTTCAGCTTAGAGACC	0.338			NA											20	35					6.44725e-10	8.15463e-10	0.014323	1	0
PAPOLB	56903	broad.mit.edu	37	7	4900091	4900091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:4900091C>A	uc003snk.2	-	1	1535	c.1351G>T	c.(1351-1353)GAA>TAA	p.E451*	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	450					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTGAGAATTTCAGAATTATCT	0.378			NA											80	112					1.91123e-38	3.18538e-38	0.01441	1	0
THSD7A	221981	broad.mit.edu	37	7	11501720	11501720	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:11501720G>T	uc003ssf.3	-	10	2671	c.2419C>A	c.(2419-2421)CCA>ACA	p.P807T		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	807	TSP type-1 8.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCGTTGGCTGGCAGCTGAATG	0.507			NA								HNSCC(18;0.044)			60	118					3.95532e-38	6.55804e-38	0.01441	1	0
TMEM195	392636	broad.mit.edu	37	7	15599801	15599801	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:15599801C>A	uc003stb.1	-	2	392	c.222G>T	c.(220-222)ACG>ACT	p.T74T		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	74					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						CTGAGATTGACGTTAAAGCAT	0.453			NA											22	65					7.76418e-22	1.15025e-21	0.005443	1	0
DNAH11	8701	broad.mit.edu	37	7	21745109	21745109	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:21745109G>T	uc003svc.2	+	40	6552	c.6521G>T	c.(6520-6522)CGG>CTG	p.R2174L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2174	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TTGGCTGTGCGGCACTCGGTC	0.423			NA							Kartagener_syndrome				6	45					0.00621372	0.00662796	0.006214	1	0
INHBA	3624	broad.mit.edu	37	7	41739733	41739733	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:41739733C>T	uc003thq.2	-	1	475	c.240G>A	c.(238-240)AAG>AAA	p.K80K	LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Silent_p.K80K|LOC285954_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	80					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						GAAGCGCCGCCTTGGGTACCG	0.527			NA								TSP Lung(11;0.080)			8	626					0	0	0.001855	0	0
ELN	2006	broad.mit.edu	37	7	73480297	73480297	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:73480297C>T	uc003tzw.2	+	31	2165	c.2074C>T	c.(2074-2076)CTA>TTA	p.L692L	RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.L686L|ELN_uc003tzz.2_Silent_p.L605L|ELN_uc003tzo.2_Intron|ELN_uc003tzp.2_Intron|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Silent_p.L667L|ELN_uc003tzt.2_Intron|ELN_uc003tzu.2_Intron|ELN_uc003tzv.2_Intron|ELN_uc003tzx.2_Silent_p.L676L|ELN_uc011kff.1_Intron|ELN_uc003tzy.2_Silent_p.L662L	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	748					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGAGGTGTCCTAGGGGGTGC	0.622			NA	T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						4	144					0	0	0.000602	0	0
MLL5	55904	broad.mit.edu	37	7	104745898	104745898	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:104745898G>C	uc003vcm.2	+	18	2743	c.2209G>C	c.(2209-2211)GAA>CAA	p.E737Q	MLL5_uc010ljc.2_Missense_Mutation_p.E737Q|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.2_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	737					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CTTGGTTAATGAATGGTTAAG	0.348			NA											3	101					0	0	0.009096	0	0
MET	4233	broad.mit.edu	37	7	116339807	116339807	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:116339807A>G	uc003vij.2	+	2	856	c.669A>G	c.(667-669)AAA>AAG	p.K223K	MET_uc010lkh.2_Silent_p.K223K|MET_uc011knc.1_Silent_p.K223K|MET_uc011knd.1_Silent_p.K223K|MET_uc011kne.1_Silent_p.K223K|MET_uc011knf.1_Silent_p.K223K|MET_uc011kng.1_Silent_p.K223K|MET_uc011knh.1_Silent_p.K223K|MET_uc011kni.1_Silent_p.K223K|MET_uc003vii.1_Silent_p.K242K|MET_uc010lkg.2_Silent_p.K223K|MET_uc011kmz.1_Silent_p.K223K|MET_uc011kna.1_Silent_p.K223K|MET_uc011knb.1_Silent_p.K223K	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	223	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGGAAACGAAAGATGGTTTTA	0.383			NA	Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				8	279					0	0	0.00308	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121682660	121682660	+	Splice_Site	SNP	A	A	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:121682660A>C	uc003vjy.2	+	22	6197	c.5802_splice	c.e22-2	p.S1934_splice	PTPRZ1_uc003vjz.2_Splice_Site_p.S1067_splice|PTPRZ1_uc011knt.1_Splice_Site_p.S524_splice	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,						central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TCTTCTCTTCAGTGCTGGAGT	0.333			NA											6	36					0	0	0.001168	0	0
RNF133	168433	broad.mit.edu	37	7	122338100	122338100	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:122338100C>A	uc003vkj.1	-	1	1109	c.873G>T	c.(871-873)GGG>GGT	p.G291G	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	291	RING-type; atypical.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						TGGGGCATGTCCCATGGGGTA	0.373	Colon(198;1778 2057 7449 19869 45985)		NA											46	39					2.55665e-31	4.01043e-31	0.01441	1	0
TAS2R16	50833	broad.mit.edu	37	7	122635134	122635134	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:122635134C>T	uc003vkl.1	-	1	621	c.555G>A	c.(553-555)TTG>TTA	p.L185L		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	185	Helical; Name=5; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						AAGGAATAACCAATGCAACTG	0.433			NA											9	119					0	0	0.004482	0	0
RNF32	140545	broad.mit.edu	37	7	156468537	156468537	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:156468537T>A	uc003wmo.2	+	8	1014	c.832T>A	c.(832-834)TGG>AGG	p.W278R	RNF32_uc010lqm.2_Missense_Mutation_p.W278R|RNF32_uc003wmq.2_Missense_Mutation_p.W278R|RNF32_uc003wmr.2_Missense_Mutation_p.W278R|RNF32_uc003wmu.2_RNA	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	ring finger protein 32	278						aggresome|endosome	protein binding|zinc ion binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGAAGAGGAATGGGAGAAAAT	0.522			NA											53	57					0	0	0.01441	0	0
KIF13B	23303	broad.mit.edu	37	8	29023195	29023195	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:29023195G>A	uc003xhh.3	-	12	1312	c.1253C>T	c.(1252-1254)ACG>ATG	p.T418M	KIF13B_uc003xhj.2_Missense_Mutation_p.T315M|KIF13B_uc010lvf.1_Missense_Mutation_p.T354M	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	418	Potential.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AATCTCCTCCGTTTTCCTTAA	0.458			NA											8	71					0	0	0.006214	0	0
Unknown	0	broad.mit.edu	37	8	73150328	73150328	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:73150328A>G	uc010lzg.2	-	7	916	c.380T>C	c.(379-381)ATG>ACG	p.M127T						Homo sapiens cDNA, FLJ99767.												NA						GTCCAGGCACATTTTCATCAT	0.418			NA											24	51					0	0	0.00632	0	0
KCNB2	9312	broad.mit.edu	37	8	73480420	73480420	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:73480420G>C	uc003xzb.2	+	2	1039	c.451G>C	c.(451-453)GAA>CAA	p.E151Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	151	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			AATGAACGAAGAACTGAGGCG	0.458			NA											67	149					0	0	0.01441	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617092	77617093	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:77617092_77617093CC>AG	uc003yav.2	+	2	1156_1157	c.769_770CC>AG	c.(769-771)CCT>AGT	p.P257S	ZFHX4_uc003yat.1_Missense_Mutation_p.P257S|ZFHX4_uc003yau.1_Missense_Mutation_p.P257S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P257S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	257						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAAGATGTCCCTAACAATGTG	0.421			NA								HNSCC(33;0.089)			29	56					0	0	0.004672	0	0
CSMD3	114788	broad.mit.edu	37	8	113651094	113651094	+	Silent	SNP	G	G	A	rs145905619		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:113651094G>A	uc003ynu.2	-	21	3516	c.3357C>T	c.(3355-3357)GAC>GAT	p.D1119D	CSMD3_uc003yns.2_Silent_p.D391D|CSMD3_uc003ynt.2_Silent_p.D1079D|CSMD3_uc011lhx.1_Silent_p.D1015D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1119	Extracellular (Potential).|CUB 6.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCAGTAAGTAGTCATGATGGT	0.403			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	41					0	0	0.004007	0	0
PSIP1	11168	broad.mit.edu	37	9	15472678	15472678	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:15472678T>G	uc003zlv.3	-	10	1259	c.929A>C	c.(928-930)GAA>GCA	p.E310A	PSIP1_uc003zlw.3_Missense_Mutation_p.E310A|PSIP1_uc003zlz.3_Missense_Mutation_p.E310A|PSIP1_uc003zma.3_Missense_Mutation_p.E301A|PSIP1_uc003zly.2_Missense_Mutation_p.E310A	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	310	Potential.				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		ATCTGCTGCTTCTTTCTCATG	0.373			NA											20	62					0	0	0.014323	0	0
BNC2	54796	broad.mit.edu	37	9	16437347	16437347	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:16437347A>T	uc003zml.2	-	6	985	c.845T>A	c.(844-846)ATA>AAA	p.I282K	BNC2_uc011lmw.1_Missense_Mutation_p.I187K|BNC2_uc003zmm.2_Missense_Mutation_p.I240K|BNC2_uc003zmq.1_Missense_Mutation_p.I296K|BNC2_uc003zmr.1_Missense_Mutation_p.I319K|BNC2_uc003zmp.1_Missense_Mutation_p.I310K|BNC2_uc010mij.1_Missense_Mutation_p.I204K|BNC2_uc011lmv.1_Missense_Mutation_p.I108K|BNC2_uc003zmo.1_Missense_Mutation_p.I204K|BNC2_uc003zmj.2_Missense_Mutation_p.I47K|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.I47K|BNC2_uc003zmn.1_Missense_Mutation_p.I47K	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GAAAGTCCTTATATCTGAGTC	0.473			NA											17	163					0	0	0.00499	0	0
SLC24A2	25769	broad.mit.edu	37	9	19550264	19550264	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:19550264G>T	uc003zoa.1	-	7	1412	c.1350C>A	c.(1348-1350)ACC>ACA	p.T450T	SLC24A2_uc003zob.1_Silent_p.T433T	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	450	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CCTCATCAGCGGTCTGTGGTA	0.453			NA											16	93					1.5739e-10	2.02268e-10	0.004007	1	0
TLN1	7094	broad.mit.edu	37	9	35710595	35710595	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:35710595G>A	uc003zxt.2	-	33	4643	c.4289C>T	c.(4288-4290)TCA>TTA	p.S1430L		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1430	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AAGTGCCTTTGAGGCTGTGGA	0.517			NA											13	31					0	0	0.008871	0	0
KIF27	55582	broad.mit.edu	37	9	86503413	86503413	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:86503413C>G	uc004ana.2	-	8	2218	c.2074G>C	c.(2074-2076)GAG>CAG	p.E692Q	KIF27_uc010mpw.2_Missense_Mutation_p.E692Q|KIF27_uc010mpx.2_Missense_Mutation_p.E692Q	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	692					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						CCTTCATTCTCCAAATCTGAC	0.343			NA											18	30					0	0	0.006122	0	0
PTCH1	5727	broad.mit.edu	37	9	98209232	98209232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:98209232C>A	uc004avk.3	-	23	4494	c.4306G>T	c.(4306-4308)GAA>TAA	p.E1436*	PTCH1_uc010mrn.2_Nonsense_Mutation_p.E228*|PTCH1_uc010mro.2_Nonsense_Mutation_p.E1285*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.E1285*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.E1285*|PTCH1_uc004avl.3_Nonsense_Mutation_p.E1285*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.E1370*|PTCH1_uc004avm.3_Nonsense_Mutation_p.E1435*	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1436	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCCTCGCATTCCACGTCCTGC	0.602			NA							Basal_Cell_Nevus_syndrome				52	84					1.57914e-17	2.26604e-17	0.01441	1	0
OR13C4	138804	broad.mit.edu	37	9	107288692	107288692	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:107288692G>T	uc011lvn.1	-	1	799	c.799C>A	c.(799-801)CTC>ATC	p.L267I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTCCCAAGGAGGTCCTGGGAC	0.428			NA											10	76					1.58986e-06	1.84332e-06	0.008291	1	0
SVEP1	79987	broad.mit.edu	37	9	113265485	113265485	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:113265485G>A	uc010mtz.2	-	6	1653	c.1316C>T	c.(1315-1317)CCT>CTT	p.P439L	SVEP1_uc010mua.1_Missense_Mutation_p.P439L|SVEP1_uc004beu.2_Missense_Mutation_p.P439L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	439	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GCGGAGATGAGGACATGTTCT	0.368			NA											9	73					0	0	0.004482	0	0
TTC16	158248	broad.mit.edu	37	9	130479235	130479235	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:130479235G>T	uc004brq.1	+	2	198	c.131G>T	c.(130-132)AGC>ATC	p.S44I	PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'UTR|PTRH1_uc011mah.1_5'UTR|TTC16_uc011mai.1_Missense_Mutation_p.S44I|TTC16_uc004brr.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	44							binding				0						GTGTTCCAAAGCATCTGTGAT	0.498			NA											9	59					7.48243e-07	8.70683e-07	0.006214	1	0
GPR143	4935	broad.mit.edu	37	X	9693874	9693874	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:9693874T>C	uc004cst.1	-	9	1187	c.1187A>G	c.(1186-1188)GAT>GGT	p.D396G		NM_000273	NP_000264	P51810	GP143_HUMAN	G protein-coupled receptor 143	376	Cytoplasmic (Potential).				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			ovary(1)	1		Hepatocellular(5;0.000888)				TGTGCTGGCATCAGAACCTGG	0.463			NA											6	47					0	0	0.001984	0	0
FRMPD4	9758	broad.mit.edu	37	X	12722577	12722577	+	Silent	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:12722577T>C	uc004cuz.1	+	11	1676	c.1170T>C	c.(1168-1170)AAT>AAC	p.N390N	FRMPD4_uc011mij.1_Silent_p.N382N	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	390	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						TCAAAGCAAATCAAAACTTGG	0.343			NA											3	103					0	0	0.009096	0	0
HUWE1	10075	broad.mit.edu	37	X	53607798	53607798	+	Silent	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:53607798T>A	uc004dsp.2	-	43	6111	c.5709A>T	c.(5707-5709)TCA>TCT	p.S1903S	HUWE1_uc004dsn.2_Silent_p.S728S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1903					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TACCAGTTCCTGAGCCTCGAG	0.498			NA											13	51					0	0	0.001855	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69421829	69421829	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:69421829G>T	uc004dxx.1	+	5	659	c.562G>T	c.(562-564)GCT>TCT	p.A188S		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	188					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(1)	1						GGGTGGAGCTGCTGAAGCTCT	0.537			NA											9	62					7.48243e-07	8.70683e-07	0.006214	1	0
SLC7A3	84889	broad.mit.edu	37	X	70147433	70147433	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:70147433C>A	uc004dyn.2	-	7	1242	c.1084G>T	c.(1084-1086)GCG>TCG	p.A362S	SLC7A3_uc004dyo.2_Missense_Mutation_p.A362S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	362	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTGCCATCGCGTAGATCACC	0.587			NA											10	41					3.86212e-05	4.3062e-05	0.008291	1	0
ACRC	93953	broad.mit.edu	37	X	70823472	70823472	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:70823472C>A	uc004eae.2	+	8	846	c.345C>A	c.(343-345)GCC>GCA	p.A115A	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	115						nucleus				ovary(3)	3	Renal(35;0.156)					TGAAGCCTGCCATCCAGGAAC	0.413			NA											46	258					3.54909e-21	5.20967e-21	0.011902	1	0
ACRC	93953	broad.mit.edu	37	X	70832808	70832808	+	Silent	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:70832808G>C	uc004eae.2	+	13	2553	c.2052G>C	c.(2050-2052)GGG>GGC	p.G684G	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	684						nucleus				ovary(3)	3	Renal(35;0.156)					AGAAAGATGGGACCCGTATTG	0.488			NA											20	120					0	0	0.012319	0	0
NHSL2	340527	broad.mit.edu	37	X	71359765	71359765	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:71359765C>T	uc011mqa.1	+	6	2367	c.2367C>T	c.(2365-2367)TCC>TCT	p.S789S	NHSL2_uc004eak.1_Silent_p.S423S|NHSL2_uc010nli.2_Silent_p.S558S	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN	NHS-like 2	789											0	Renal(35;0.156)					TGAGTATCTCCATCCGAAGCA	0.502			NA											6	67					0	0	0.001984	0	0
ATRX	546	broad.mit.edu	37	X	76845335	76845335	+	Silent	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:76845335T>A	uc004ecp.3	-	27	6418	c.6186A>T	c.(6184-6186)ACA>ACT	p.T2062T	ATRX_uc004ecq.3_Silent_p.T2024T|ATRX_uc004eco.3_Silent_p.T1847T	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2062	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CTTTATCTTCTGTCTTCTCCC	0.294			NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						17	25					0	0	0.007413	0	0
BRWD3	254065	broad.mit.edu	37	X	79932535	79932535	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:79932535C>G	uc004edt.2	-	41	5245	c.4982G>C	c.(4981-4983)GGA>GCA	p.G1661A	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G1257A|BRWD3_uc004edp.2_Missense_Mutation_p.G1490A|BRWD3_uc004edq.2_Missense_Mutation_p.G1257A|BRWD3_uc010nmj.1_Missense_Mutation_p.G1257A|BRWD3_uc004edr.2_Missense_Mutation_p.G1331A|BRWD3_uc004eds.2_Missense_Mutation_p.G1257A|BRWD3_uc004edu.2_Missense_Mutation_p.G1331A|BRWD3_uc004edv.2_Missense_Mutation_p.G1257A|BRWD3_uc004edw.2_Missense_Mutation_p.G1257A|BRWD3_uc004edx.2_Missense_Mutation_p.G1257A|BRWD3_uc004edy.2_Missense_Mutation_p.G1257A|BRWD3_uc004edz.2_Missense_Mutation_p.G1331A|BRWD3_uc004eea.2_Missense_Mutation_p.G1331A|BRWD3_uc004eeb.2_Missense_Mutation_p.G1257A|uc004edn.1_5'Flank	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1661	Gly-rich.									ovary(4)	4						ATTTCTTTTTCCATTGCCATG	0.353			NA											15	341					0	0	0.007413	0	0
BRWD3	254065	broad.mit.edu	37	X	79939515	79939515	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:79939515C>A	uc004edt.2	-	37	4490	c.4227G>T	c.(4225-4227)AAG>AAT	p.K1409N	BRWD3_uc010nmi.1_Intron|BRWD3_uc004edo.2_Missense_Mutation_p.K1005N|BRWD3_uc004edp.2_Missense_Mutation_p.K1238N|BRWD3_uc004edq.2_Missense_Mutation_p.K1005N|BRWD3_uc010nmj.1_Missense_Mutation_p.K1005N|BRWD3_uc004edr.2_Missense_Mutation_p.K1079N|BRWD3_uc004eds.2_Missense_Mutation_p.K1005N|BRWD3_uc004edu.2_Missense_Mutation_p.K1079N|BRWD3_uc004edv.2_Missense_Mutation_p.K1005N|BRWD3_uc004edw.2_Missense_Mutation_p.K1005N|BRWD3_uc004edx.2_Missense_Mutation_p.K1005N|BRWD3_uc004edy.2_Missense_Mutation_p.K1005N|BRWD3_uc004edz.2_Missense_Mutation_p.K1079N|BRWD3_uc004eea.2_Missense_Mutation_p.K1079N|BRWD3_uc004eeb.2_Missense_Mutation_p.K1005N	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1409	Bromo 2.									ovary(4)	4						ATACCCTTGACTTTTTATTAG	0.338			NA											13	28					1.5842e-08	1.94978e-08	0.001855	1	0
CPXCR1	53336	broad.mit.edu	37	X	88008550	88008550	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:88008550A>T	uc004efd.3	+	3	394	c.135A>T	c.(133-135)GAA>GAT	p.E45D	CPXCR1_uc004efc.3_Missense_Mutation_p.E45D	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	45						intracellular	zinc ion binding			ovary(3)	3						ATCAGGTAGAAACCAACCCAA	0.448			NA											7	19					0	0	0.001984	0	0
CENPI	2491	broad.mit.edu	37	X	100403112	100403113	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:100403112_100403113CC>AA	uc004egx.2	+	19	2326_2327	c.2056_2057CC>AA	c.(2056-2058)CCT>AAT	p.P686N	CENPI_uc011mrg.1_Missense_Mutation_p.P686N	NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I	686					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1						AGTCCATCATCCTTCTTTCTTG	0.351			NA											31	155					0	0	0.004672	0	0
BTK	695	broad.mit.edu	37	X	100613365	100613365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:100613365G>T	uc004ehg.2	-	12	1228	c.1035C>A	c.(1033-1035)TAC>TAA	p.Y345*	BTK_uc004ehf.2_5'UTR|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_RNA|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_5'UTR|BTK_uc010nnm.2_5'UTR|BTK_uc010nnn.2_Nonsense_Mutation_p.Y345*|BTK_uc010nno.2_Nonsense_Mutation_p.Y379*|BTK_uc004ehh.1_RNA|BTK_uc004ehi.2_Nonsense_Mutation_p.Y345*	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	345	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						TCTCAGCCAGGTAATACTGGC	0.498			NA							Agammaglobulinemia_X-linked				68	305					9.65139e-37	1.57574e-36	0.01441	1	0
TCEAL3	85012	broad.mit.edu	37	X	102864328	102864328	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:102864328A>G	uc004ekq.2	+	3	598	c.336A>G	c.(334-336)AGA>AGG	p.R112R	TCEAL3_uc004ekr.2_Silent_p.R112R	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AAGCAAAAAGAAAAACGGACA	0.582			NA											41	194					0	0	0.00874	0	0
RAB9B	51209	broad.mit.edu	37	X	103080712	103080712	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:103080712C>A	uc004ell.1	-	3	288	c.3G>T	c.(1-3)ATG>ATT	p.M1I	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	1					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(3)	3						ATTTCCCACTCATTTTTGCAG	0.413			NA											34	181					2.19358e-23	3.29552e-23	0.005524	1	0
MUM1L1	139221	broad.mit.edu	37	X	105449798	105449798	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:105449798C>A	uc004emf.1	+	4	1022	c.373C>A	c.(373-375)CAG>AAG	p.Q125K	MUM1L1_uc004emg.1_Missense_Mutation_p.Q125K	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	125										ovary(2)|pancreas(1)|skin(1)	4						ACCACAAAAACAGTCCGATTC	0.433			NA											3	42					0.000602214	0.000655471	0.000602	1	0
AMOT	154796	broad.mit.edu	37	X	112024258	112024258	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:112024258C>A	uc004epr.2	-	9	2329	c.2329G>T	c.(2329-2331)GAG>TAG	p.E777*	AMOT_uc004eps.2_Nonsense_Mutation_p.E368*|AMOT_uc011mtc.1_Nonsense_Mutation_p.E17*|hsa-mir-4329|MI0015901_5'Flank	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	777					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						GACAGCTGCTCTGTCTTGCTC	0.547			NA											146	232					1.01383e-91	1.75365e-91	0.01441	1	0
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:112058796C>T	uc004epr.2	-	2	1182	c.1182G>A	c.(1180-1182)CAG>CAA	p.Q394Q	AMOT_uc004eps.2_5'UTR|AMOT_uc004ept.1_Silent_p.Q394Q	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						gctgctgctgctgttgttggt	0.338			NA											3	47					0	0	0.004672	0	0
KLHL13	90293	broad.mit.edu	37	X	117033333	117033333	+	Silent	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:117033333T>C	uc004eql.2	-	7	1568	c.1506A>G	c.(1504-1506)CAA>CAG	p.Q502Q	KLHL13_uc004eqk.2_Silent_p.Q451Q|KLHL13_uc011mtn.1_Silent_p.Q342Q|KLHL13_uc011mto.1_Silent_p.Q496Q|KLHL13_uc011mtp.1_Silent_p.Q504Q|KLHL13_uc004eqm.2_Silent_p.Q451Q|KLHL13_uc011mtq.1_Silent_p.Q486Q	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	502	Kelch 4.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						TGAGCTCCTTTTGGAAAGTAT	0.388			NA											34	232					0	0	0.004289	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249586	119249586	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:119249586C>A	uc004esk.1	-	1	262	c.187G>T	c.(187-189)GAT>TAT	p.D63Y	uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	63					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ATGCCGCCATCGCGGTTCATG	0.672			NA											26	49					4.00102e-26	6.12596e-26	0.00623	1	0
IGSF1	3547	broad.mit.edu	37	X	130420644	130420644	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:130420644G>T	uc004ewd.2	-	2	243	c.5C>A	c.(4-6)ACC>AAC	p.T2N	IGSF1_uc004ewe.3_5'UTR|IGSF1_uc004ewf.2_5'UTR|IGSF1_uc004ewg.2_Missense_Mutation_p.T2N	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	2					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TCTGTCCAGGGTCATGGGGCC	0.522			NA											47	60					4.57556e-38	7.54732e-38	0.013114	1	0
BRS3	680	broad.mit.edu	37	X	135574142	135574142	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:135574142G>T	uc004ezv.1	+	3	957	c.808G>T	c.(808-810)GCC>TCC	p.A270S		NM_001727	NP_001718	P32247	BRS3_HUMAN	bombesin-like receptor 3	270	Cytoplasmic (Potential).				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AAAGAGAATTGCCAGAACGGT	0.323			NA											12	185					2.80697e-09	3.46808e-09	0.010729	1	0
VGLL1	51442	broad.mit.edu	37	X	135630900	135630900	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:135630900G>T	uc004ezy.2	+	3	537	c.367G>T	c.(367-369)GCC>TCC	p.A123S	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					GGCTAGGAGGGCCTCTGTTCG	0.607			NA											87	362					1.19347e-43	2.01006e-43	0.01441	1	0
AFF2	2334	broad.mit.edu	37	X	148048333	148048333	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:148048333C>A	uc004fcp.2	+	14	3406	c.2927C>A	c.(2926-2928)CCA>CAA	p.P976Q	AFF2_uc004fcq.2_Missense_Mutation_p.P966Q|AFF2_uc004fcr.2_Missense_Mutation_p.P937Q|AFF2_uc011mxb.1_Missense_Mutation_p.P941Q|AFF2_uc004fcs.2_Missense_Mutation_p.P941Q|AFF2_uc011mxc.1_Missense_Mutation_p.P617Q	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	976					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGACACTCCAAAAAAGGCA	0.299			NA											37	141					1.52319e-26	2.35468e-26	0.00874	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092363	151092363	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:151092363T>A	uc004fez.2	+	3	383	c.227T>A	c.(226-228)ATC>AAC	p.I76N	MAGEA4_uc004ffa.2_Missense_Mutation_p.I76N|MAGEA4_uc004ffb.2_Missense_Mutation_p.I76N|MAGEA4_uc004ffc.2_Missense_Mutation_p.I76N|MAGEA4_uc004ffd.2_Missense_Mutation_p.I76N	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	76							protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACTACCATCAGCTTCACT	0.607			NA											28	116					0	0	0.010818	0	0
NSDHL	50814	broad.mit.edu	37	X	152034484	152034484	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:152034484G>T	uc004fgt.1	+	7	926	c.665G>T	c.(664-666)GGC>GTC	p.G222V	NSDHL_uc004fgs.1_Missense_Mutation_p.G222V	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	222					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCCAGGAACGGCAAGATGAAG	0.567			NA											21	203					5.35356e-11	6.9924e-11	0.00278	1	0
PLXNA3	55558	broad.mit.edu	37	X	153695419	153695419	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:153695419G>C	uc004flm.2	+	18	3300	c.3127G>C	c.(3127-3129)GTG>CTG	p.V1043L		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1043	IPT/TIG 3.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCATCACTGTGAGTGGGAC	0.662			NA											18	104					0	0	0.007413	0	0
F8	2157	broad.mit.edu	37	X	154225290	154225290	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:154225290T>G	uc004fmt.2	-	3	517	c.346A>C	c.(346-348)AGT>CGT	p.S116R	F8_uc011mzx.1_Missense_Mutation_p.S81R	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	116	Plastocyanin-like 1.|F5/8 type A 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCATGAAGACTGACAGGATGG	0.443			NA											6	280					0	0	0.004482	0	0
MACF1	23499	broad.mit.edu	37	1	39827187	39827187	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:39827187delG	uc010oiu.1	+	13	8060	c.7929delG	c.(7927-7929)CAGfs	p.Q2643fs	MACF1_uc010ois.1_Frame_Shift_Del_p.Q2141fs|MACF1_uc001cda.1_Frame_Shift_Del_p.Q2049fs|MACF1_uc001cdc.1_Frame_Shift_Del_p.Q1228fs|MACF1_uc001cdb.1_Frame_Shift_Del_p.Q1228fs	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4208					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTGTCTACAGCAGCAAGAAA	0.517			NA											13	114	---	---	---	---	NA	NA	NA	NA	NA
C10orf78	119392	broad.mit.edu	37	10	105883551	105883553	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	TTA	TTA	-	-	TTA	TTA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:105883551_105883553delTTA	uc001kxu.2	+	3	228_230	c.215_217delTTA	c.(214-219)CTTAAA>CAA	p.72_73LK>Q	C10orf78_uc001kxs.2_In_Frame_Del_p.59_60LK>Q|C10orf78_uc001kxt.2_In_Frame_Del_p.26_27LK>Q|C10orf78_uc001kxv.2_In_Frame_Del_p.134_135LK>Q	NM_001002759	NP_001002759	Q86XK3	SFR1_HUMAN	hypothetical protein LOC119392 isoform a	72_73					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014)		GTGAAACGTCTTAAAGTAGAGAG	0.33			NA											15	94	---	---	---	---	NA	NA	NA	NA	NA
OR51L1	119682	broad.mit.edu	37	11	5020560	5020561	+	Frame_Shift_Ins	INS	-	-	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:5020560_5020561insT	uc010qyu.1	+	1	348_349	c.348_349insT	c.(346-351)GTGTTGfs	p.V116fs		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	116_117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCCTCAGTGTTGCTGGCCAT	0.5			NA											76	154	---	---	---	---	NA	NA	NA	NA	NA
SPIC	121599	broad.mit.edu	37	12	101876581	101876581	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:101876581delG	uc001tid.2	+	5	381	c.222delG	c.(220-222)GCGfs	p.A74fs	SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Frame_Shift_Del_p.A73fs	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	74						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						ACAGTGCTGCGGACTTCTATT	0.244			NA											51	263	---	---	---	---	NA	NA	NA	NA	NA
PSMA6	5687	broad.mit.edu	37	14	35782216	35782216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr14:35782216delA	uc001wtd.2	+	5	648	c.539delA	c.(538-540)GAAfs	p.E180fs	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Frame_Shift_Del_p.E101fs|PSMA6_uc010tpu.1_Frame_Shift_Del_p.E101fs	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AGCTTCCTTGAAAAAAAAGTG	0.403			NA											12	1516	---	---	---	---	NA	NA	NA	NA	NA
TRAPPC6B	122553	broad.mit.edu	37	14	39620949	39620949	+	Splice_Site	DEL	C	C	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr14:39620949delC	uc001wut.1	-	5	780	c.445_splice	c.e5+1	p.C149_splice	TRAPPC6B_uc001wuu.1_Splice_Site_p.C121_splice|TRAPPC6B_uc001wuv.1_Splice_Site|TRAPPC6B_uc010tqd.1_Splice_Site_p.C87_splice	NM_001079537	NP_001073005	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B isoform						vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		ATTCAACTTACAAGCAGGCAT	0.308			NA											25	252	---	---	---	---	NA	NA	NA	NA	NA
ROCK2	9475	broad.mit.edu	37	2	11332269	11332273	+	Splice_Site	DEL	ATTAC	ATTAC	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	ATTAC	ATTAC	-	-	ATTAC	ATTAC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:11332269_11332273delATTAC	uc002rbd.1	-	32	4612	c.4163_splice	c.e32+1	p.S1388_splice		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein						axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATTTTAGTTTATTACCTAGGTTTGT	0.341			NA											39	118	---	---	---	---	NA	NA	NA	NA	NA
PLEC	5339	broad.mit.edu	37	8	145010135	145010143	+	In_Frame_Del	DEL	CTTGGCCGT	CTTGGCCGT	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	CTTGGCCGT	CTTGGCCGT	-	-	CTTGGCCGT	CTTGGCCGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:145010135_145010143delCTTGGCCGT	uc003zaf.1	-	6	1056_1064	c.886_894delACGGCCAAG	c.(886-894)ACGGCCAAGdel	p.TAK296del	PLEC_uc003zab.1_In_Frame_Del_p.TAK159del|PLEC_uc003zac.1_In_Frame_Del_p.TAK163del|PLEC_uc003zad.2_In_Frame_Del_p.TAK159del|PLEC_uc003zae.1_In_Frame_Del_p.TAK127del|PLEC_uc003zag.1_In_Frame_Del_p.TAK137del|PLEC_uc003zah.2_In_Frame_Del_p.TAK145del|PLEC_uc003zaj.2_In_Frame_Del_p.TAK186del	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	296_298	CH 2.|Globular 1.|Actin-binding.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCAGCTTCTCCTTGGCCGTCATGTCCTCC	0.617			NA											14	56	---	---	---	---	NA	NA	NA	NA	NA
TCEAL5	340543	broad.mit.edu	37	X	102528926	102528926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:102528926delC	uc004ejz.1	-	3	861	c.566delG	c.(565-567)GGAfs	p.G189fs		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						GCCCCTCACTCCCCTCACACC	0.388			NA											48	195	---	---	---	---	NA	NA	NA	NA	NA
AFF2	2334	broad.mit.edu	37	X	147744260	147744260	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:147744260delC	uc004fcp.2	+	3	1491	c.1012delC	c.(1012-1014)CCAfs	p.P338fs	AFF2_uc004fco.2_Frame_Shift_Del_p.P334fs|AFF2_uc004fcq.2_Frame_Shift_Del_p.P334fs|AFF2_uc004fcr.2_Frame_Shift_Del_p.P334fs|AFF2_uc011mxb.1_Frame_Shift_Del_p.P338fs|AFF2_uc004fcs.2_Frame_Shift_Del_p.P334fs	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	338					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GACTAAACTGCCAAAGTTCAC	0.368			NA											15	82	---	---	---	---	NA	NA	NA	NA	NA
F8	2157	broad.mit.edu	37	X	154221303	154221303	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:154221303delG	uc004fmt.2	-	4	680	c.509delC	c.(508-510)CCAfs	p.P170fs	F8_uc011mzx.1_Frame_Shift_Del_p.P135fs	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	170	Plastocyanin-like 1.|F5/8 type A 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGGCACAGTGGGTCAGAGGC	0.458			NA											64	302	---	---	---	---	NA	NA	NA	NA	NA
