Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
MIB2	142678	broad.mit.edu	37	1	1562274	1562274	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:1562274G>A	uc001agg.2	+	10	1436	c.1309G>A	c.(1309-1311)GCA>ACA	p.A437T	MIB2_uc001agh.2_Missense_Mutation_p.A423T|MIB2_uc001agi.2_Missense_Mutation_p.A433T|MIB2_uc001agj.2_Missense_Mutation_p.A278T|MIB2_uc001agk.2_Missense_Mutation_p.A372T|MIB2_uc001agl.1_Missense_Mutation_p.A393T|MIB2_uc001agm.2_Missense_Mutation_p.A314T|MIB2_uc010nyq.1_Missense_Mutation_p.A393T|MIB2_uc009vkh.2_Missense_Mutation_p.A243T|MIB2_uc001agn.2_Missense_Mutation_p.A69T|MIB2_uc001ago.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	437					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGCGTGTAGCAGTCGCTGG	0.697												
TMEM52	339456	broad.mit.edu	37	1	1849409	1849409	+	Missense_Mutation	SNP	A	A	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:1849409A>C	uc001aij.2	-	5	578	c.542T>G	c.(541-543)CTT>CGT	p.L181R	TMEM52_uc001aii.2_Missense_Mutation_p.L166R	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	transmembrane protein 52 precursor	181						integral to membrane					0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGAGGCCCCAAGGAGAGGGCT	0.617												
ARHGEF16	27237	broad.mit.edu	37	1	3396446	3396446	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:3396446G>A	uc001akg.3	+	14	2207	c.1959G>A	c.(1957-1959)GCG>GCA	p.A653A	ARHGEF16_uc001aki.2_Silent_p.A365A|ARHGEF16_uc001akj.2_Silent_p.A365A|ARHGEF16_uc010nzh.1_Silent_p.A357A	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	653	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGCAGCAGGCGGACGTGGTCC	0.642												
TP73	7161	broad.mit.edu	37	1	3644760	3644760	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:3644760C>T	uc001akp.2	+	9	1163	c.1053C>T	c.(1051-1053)GAC>GAT	p.D351D	TP73_uc001akq.2_Silent_p.D351D|TP73_uc010nzj.1_Silent_p.D302D|TP73_uc001akr.2_Silent_p.D302D|TP73_uc009vlk.1_Silent_p.D302D|TP73_uc001aks.2_Silent_p.D302D|TP73_uc010nzk.1_Silent_p.D280D|TP73_uc010nzl.1_Translation_Start_Site	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	351	Oligomerization (Potential).|Interaction with HIPK2.				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GGCATGGAGACGAGGACACGT	0.677												
CHD5	26038	broad.mit.edu	37	1	6206379	6206379	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:6206379G>A	uc001amb.1	-	11	1795	c.1695C>T	c.(1693-1695)AGC>AGT	p.S565S	CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	565					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCTTCTCGCTCTTGCCGT	0.532												
SLC45A1	50651	broad.mit.edu	37	1	8404001	8404001	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:8404001G>A	uc001apb.2	+	8	2175	c.2175G>A	c.(2173-2175)CTG>CTA	p.L725L	SLC45A1_uc001apc.2_Silent_p.L423L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	725	Helical; (Potential).				carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCTCCCTGTTTGTCATTT	0.637												
DFFA	1676	broad.mit.edu	37	1	10521575	10521575	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:10521575G>T	uc001arj.2	-	6	1066	c.968C>A	c.(967-969)CCT>CAT	p.P323H	DFFA_uc001ark.2_3'UTR	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	323					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GGCTCGCTTAGGATTCTGCAG	0.582												
MASP2	10747	broad.mit.edu	37	1	11087239	11087239	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:11087239G>A	uc001aru.2	-	11	1785	c.1764C>T	c.(1762-1764)GTC>GTT	p.V588V		NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	588	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCGGTATGTCGACATACATTA	0.423												
MTOR	2475	broad.mit.edu	37	1	11217234	11217234	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:11217234G>A	uc001asd.2	-	30	4565	c.4444C>T	c.(4444-4446)CGC>TGC	p.R1482C		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1482	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						TCGAGGCAGCGCATGCGGCCC	0.532												
PTCHD2	57540	broad.mit.edu	37	1	11561902	11561902	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:11561902G>A	uc001ash.3	+	2	991	c.853G>A	c.(853-855)GCG>ACG	p.A285T	PTCHD2_uc001asi.1_Missense_Mutation_p.A285T	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	285	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCGCGGCGACGCGGAGCGCAA	0.637												
VPS13D	55187	broad.mit.edu	37	1	12336527	12336527	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:12336527T>C	uc001atv.2	+	19	3023	c.2882T>C	c.(2881-2883)GTG>GCG	p.V961A	VPS13D_uc001atw.2_Missense_Mutation_p.V961A|VPS13D_uc001atx.2_Missense_Mutation_p.V149A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	961					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAATTTAAAGTGAACTGTATG	0.488											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PRDM2	7799	broad.mit.edu	37	1	14107244	14107244	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:14107244C>T	uc001avi.2	+	8	3810	c.2954C>T	c.(2953-2955)CCG>CTG	p.P985L	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.P985L|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.P784L|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	985	Pro-rich.|SH3-binding (Potential).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTTGCCACTCCGCCCCCTCCC	0.612												
ARHGEF10L	55160	broad.mit.edu	37	1	17982495	17982495	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:17982495C>T	uc001ban.2	+	24	2762	c.2603C>T	c.(2602-2604)CCG>CTG	p.P868L	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P829L|ARHGEF10L_uc001bao.2_Missense_Mutation_p.P829L|ARHGEF10L_uc001bap.2_Missense_Mutation_p.P824L|ARHGEF10L_uc001baq.2_Missense_Mutation_p.P629L|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.P641L|ARHGEF10L_uc001bar.2_Missense_Mutation_p.P571L|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	868					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GAGTATATCCCGGAGCTGGAG	0.647												
KLHDC7A	127707	broad.mit.edu	37	1	18809546	18809546	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:18809546G>A	uc001bax.2	+	1	2123	c.2071G>A	c.(2071-2073)GCC>ACC	p.A691T	KLHDC7A_uc009vpg.2_Missense_Mutation_p.A473T	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	691						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGGCATCGCCGTGTACCG	0.687												
ID3	3399	broad.mit.edu	37	1	23885634	23885634	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:23885634G>T	uc001bhh.3	-	1	689	c.284C>A	c.(283-285)CCC>CAC	p.P95H	ID3_uc001bhg.1_Missense_Mutation_p.P95H	NM_002167	NP_002158	Q02535	ID3_HUMAN	inhibitor of DNA binding 3	95					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity	p.P95S(1)		central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GGGAAGGTGGGGGCCATCAGG	0.622												
LDLRAP1	26119	broad.mit.edu	37	1	25890244	25890244	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:25890244C>T	uc001bkl.3	+	7	823	c.709C>T	c.(709-711)CCG>TCG	p.P237S	LDLRAP1_uc009vrw.2_RNA|LDLRAP1_uc009vrx.2_Missense_Mutation_p.P67S	NM_015627	NP_056442	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein	237					amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GGACGAGGTGCCGCGGCCACA	0.627												
MAP3K6	9064	broad.mit.edu	37	1	27687445	27687445	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:27687445C>T	uc001bny.1	-	14	2136	c.1887G>A	c.(1885-1887)GCG>GCA	p.A629A	MAP3K6_uc009vsw.1_Silent_p.A621A|MAP3K6_uc001bnz.1_Silent_p.A152A	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	629					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCCTCCTCCGCGGGCGCCG	0.716												
SFRS4	6429	broad.mit.edu	37	1	29475303	29475303	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:29475303A>G	uc001bro.2	-	6	1477	c.1104T>C	c.(1102-1104)AGT>AGC	p.S368S	SFRS4_uc010ofy.1_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	368	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		tgcggctgcgactgcgactgc	0.08												
SERINC2	347735	broad.mit.edu	37	1	31896597	31896597	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:31896597C>T	uc010ogh.1	+	2	310	c.109C>T	c.(109-111)CGC>TGC	p.R37C	SERINC2_uc010ogg.1_Missense_Mutation_p.R34C|SERINC2_uc009vtw.1_Missense_Mutation_p.R33C|SERINC2_uc001bst.2_Missense_Mutation_p.R33C|SERINC2_uc001bsu.2_5'UTR|SERINC2_uc001bsv.2_5'UTR	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN	tumor differentially expressed 2-like	33						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CCCCGCCAGCCGCAACTCCAC	0.652												
CSMD2	114784	broad.mit.edu	37	1	34003177	34003177	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:34003177G>A	uc001bxn.1	-	60	9261	c.9232C>T	c.(9232-9234)CGT>TGT	p.R3078C	CSMD2_uc001bxm.1_Missense_Mutation_p.R3222C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3078	Extracellular (Potential).|Sushi 24.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCCTCCCACGGGACGGGACA	0.592												
MACF1	23499	broad.mit.edu	37	1	39900149	39900149	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:39900149G>A	uc010oiu.1	+	33	13080	c.12949G>A	c.(12949-12951)GCC>ACC	p.A4317T	MACF1_uc010ois.1_Missense_Mutation_p.A3815T|MACF1_uc001cda.1_Missense_Mutation_p.A3702T|MACF1_uc001cdc.1_Missense_Mutation_p.A2772T	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)			AGAGCGTTATGCCCGCCTAGA	0.423												
PPIE	10450	broad.mit.edu	37	1	40204576	40204576	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:40204576G>A	uc001cds.1	+	1	47	c.4G>A	c.(4-6)GCC>ACC	p.A2T	PPIE_uc001cdt.1_5'UTR|PPIE_uc010oiy.1_5'UTR|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.A2T|PPIE_uc001cdw.2_Missense_Mutation_p.A2T	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	2					protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGCAAGATGGCCACCACCAA	0.682												
KIAA0467	23334	broad.mit.edu	37	1	43912756	43912756	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:43912756G>A	uc001cjk.1	+	51	6968	c.6506G>A	c.(6505-6507)GGC>GAC	p.G2169D	KIAA0467_uc001cjl.1_Missense_Mutation_p.G157D	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3068						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCGGCACGGCTACCACCTC	0.602												
PTPRF	5792	broad.mit.edu	37	1	44056811	44056811	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:44056811G>A	uc001cjr.2	+	9	1458	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	PTPRF_uc001cjs.2_Missense_Mutation_p.R373H|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	373	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCACCACCCGCTACAGCATT	0.657												
PTPRF	5792	broad.mit.edu	37	1	44063476	44063476	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:44063476G>T	uc001cjr.2	+	12	2211	c.1871G>T	c.(1870-1872)CGG>CTG	p.R624L	PTPRF_uc001cjs.2_Missense_Mutation_p.R624L|PTPRF_uc001cju.2_Missense_Mutation_p.R195L|PTPRF_uc009vwt.2_Missense_Mutation_p.R195L|PTPRF_uc001cjv.2_Intron|PTPRF_uc001cjw.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	624	Extracellular (Potential).|Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCACGGTCCGGGTAAGTTGG	0.677												
B4GALT2	8704	broad.mit.edu	37	1	44447064	44447064	+	Missense_Mutation	SNP	G	G	A	rs148339623		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:44447064G>A	uc001clg.2	+	2	602	c.232G>A	c.(232-234)GGG>AGG	p.G78R	B4GALT2_uc001clh.2_Silent_p.P26P|B4GALT2_uc010okl.1_Missense_Mutation_p.G107R|B4GALT2_uc001cli.2_Missense_Mutation_p.G78R	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	78	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CTCTAGCTCCGGGCTCCCTGA	0.632												
RAD54L	8438	broad.mit.edu	37	1	46743909	46743909	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:46743909C>T	uc009vye.2	+	19	2313	c.2199C>T	c.(2197-2199)TTC>TTT	p.F733F	RAD54L_uc001cpl.2_Silent_p.F733F|RAD54L_uc001cpm.1_Silent_p.F516F	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	733					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCATCACCTTCGTCTTCCACC	0.597								Direct_reversal_of_damage|Homologous_recombination				
BEND5	79656	broad.mit.edu	37	1	49224896	49224896	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:49224896G>A	uc001crx.3	-	3	465	c.421C>T	c.(421-423)CGG>TGG	p.R141W	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_5'UTR	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	141										skin(1)	1						TTCTCTAGCCGAGCCACCACT	0.607												
ZFYVE9	9372	broad.mit.edu	37	1	52811808	52811808	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:52811808C>T	uc001cto.2	+	19	4365	c.4193C>T	c.(4192-4194)CCG>CTG	p.P1398L	ZFYVE9_uc001ctp.2_Missense_Mutation_p.P1339L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1398					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						GCCTTGGTGCCGGTGATCCAT	0.512												
C1orf175	374977	broad.mit.edu	37	1	55119617	55119617	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:55119617G>A	uc010ooe.1	+	3	1342	c.1018G>A	c.(1018-1020)GAC>AAC	p.D340N	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.D340N|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.D340N|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	340	Ser-rich.					integral to membrane	binding				0						TCTGAGCCTGGACTCCAGCCT	0.567												
JAK1	3716	broad.mit.edu	37	1	65301870	65301870	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:65301870T>C	uc001dbu.1	-	23	3418	c.3169A>G	c.(3169-3171)AAA>GAA	p.K1057E	JAK1_uc009wam.1_Missense_Mutation_p.K1045E|JAK1_uc009wal.1_Missense_Mutation_p.K234E	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	1057	Protein kinase 2.				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)		ATATAAAATTTAGATTGCATT	0.428			Mis		ALL							
JAK1	3716	broad.mit.edu	37	1	65321216	65321216	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:65321216G>A	uc001dbu.1	-	11	1873	c.1624C>T	c.(1624-1626)CGC>TGC	p.R542C	JAK1_uc009wam.1_Missense_Mutation_p.R530C	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	542	SH2.				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)		TGGCAGCAGCGTTTTAGCATG	0.577			Mis		ALL							
PDE4B	5142	broad.mit.edu	37	1	66831415	66831415	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:66831415T>C	uc001dcn.2	+	13	1541	c.1350T>C	c.(1348-1350)CAT>CAC	p.H450H	PDE4B_uc009war.2_Silent_p.H358H|PDE4B_uc001dco.2_Silent_p.H450H|PDE4B_uc001dcp.2_Silent_p.H435H|PDE4B_uc001dcq.2_Silent_p.H278H|PDE4B_uc009was.2_Silent_p.H217H	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	450					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ACGTTGATCATCCTGGAGTCT	0.428												
ACADM	34	broad.mit.edu	37	1	76200474	76200474	+	Splice_Site	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:76200474A>G	uc001dgw.3	+	6	818	c.388_splice	c.e6-2	p.Q130_splice	ACADM_uc010orc.1_Splice_Site_p.A96_splice|ACADM_uc010ord.1_Splice_Site_p.Q44_splice|ACADM_uc009wbp.2_Splice_Site_p.Q134_splice|ACADM_uc009wbr.2_Splice_Site_p.Q163_splice|ACADM_uc010ore.1_Splice_Site_p.Q94_splice|ACADM_uc010orf.1_Intron|ACADM_uc001dgx.3_Splice_Site_p.Q44_splice|ACADM_uc010org.1_Splice_Site	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a						carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)|skin(1)	4						TTTCTTCGGTAGCAAATGCCT	0.308												
FAM73A	374986	broad.mit.edu	37	1	78279472	78279472	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:78279472C>T	uc001dhx.2	+	6	723	c.691C>T	c.(691-693)CGC>TGC	p.R231C	FAM73A_uc010ork.1_Missense_Mutation_p.R231C|FAM73A_uc010orl.1_Missense_Mutation_p.R193C|FAM73A_uc001dhy.1_Missense_Mutation_p.R20C	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	231						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		TCTGACCTTTCGCAATAGACA	0.408												
DNAJB4	11080	broad.mit.edu	37	1	78470858	78470858	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:78470858A>T	uc001dij.2	+	1	223	c.64A>T	c.(64-66)AAG>TAG	p.K22*	DNAJB4_uc010orn.1_Intron	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	22	J.				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding				0						AGATATTAAAAAGGCTTACCG	0.368												
FNBP1L	54874	broad.mit.edu	37	1	93996334	93996334	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:93996334G>A	uc001dpw.2	+	7	533	c.533G>A	c.(532-534)CGT>CAT	p.R178H	FNBP1L_uc001dpv.2_Missense_Mutation_p.R178H|FNBP1L_uc010otk.1_5'UTR	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like isoform 1	178	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TTGAATCTGCGTACGCATATG	0.318												
SARS	6301	broad.mit.edu	37	1	109772104	109772104	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:109772104G>A	uc001dwu.1	+	4	432	c.357G>A	c.(355-357)GCG>GCA	p.A119A	SARS_uc001dwt.1_Silent_p.A119A|SARS_uc001dwv.1_Silent_p.A119A|SARS_uc001dww.1_Silent_p.A52A|SARS_uc001dwx.1_Silent_p.A119A|SARS_uc009wfa.1_Silent_p.A119A|SARS_uc001dwy.1_5'UTR|SARS_uc001dwz.1_5'UTR	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	119					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGTGTGACGCGGAGCGGATAA	0.507												
CTTNBP2NL	55917	broad.mit.edu	37	1	112998629	112998629	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:112998629G>A	uc001ebx.2	+	6	743	c.515G>A	c.(514-516)CGC>CAC	p.R172H	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	172	Potential.					actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGAGGAGCGCTCCCGCCAC	0.468												
MOV10	4343	broad.mit.edu	37	1	113234345	113234345	+	Missense_Mutation	SNP	C	C	T	rs148870988		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:113234345C>T	uc001eck.2	+	6	1165	c.895C>T	c.(895-897)CGC>TGC	p.R299C	MOV10_uc001ecl.2_Missense_Mutation_p.R299C|MOV10_uc001ecn.2_Missense_Mutation_p.R299C|MOV10_uc001ecm.2_Missense_Mutation_p.R239C|MOV10_uc009wgj.1_Missense_Mutation_p.R239C	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	299					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCCACCTCCCCGCCTCAGGCA	0.547												
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:115256529T>C	uc009wgu.2	-	3	436	c.182A>G	c.(181-183)CAA>CGA	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61	GTP.		Q -> K (in neuroblastoma cell).		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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(757)|p.Q61K(537)|p.Q61L(147)|p.Q61H(95)|p.Q61P(21)|p.Q61E(9)|p.Q61?(4)|p.Q61Q(3)|p.Q61_E62>HK(1)		haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(HEPG2_LIVER)|Q61R(SKMEL2_SKIN)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MHHES1_BONE)|Q61R(HT1197_URINARY_TRACT)|Q61L(MELJUSO_SKIN)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(KU1919_URINARY_TRACT)|Q61L(C3A_LIVER)|Q61R(TT2609C02_THYROID)|Q61R(NCIH2347_LUNG)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(SW1271_LUNG)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		melanoma|MM|AML|thyroid				Noonan_syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)		
TRIM45	80263	broad.mit.edu	37	1	117660760	117660760	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:117660760C>T	uc001egz.2	-	2	1706	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	TRIM45_uc009whe.2_Missense_Mutation_p.R373H|TRIM45_uc001eha.2_Missense_Mutation_p.R269H	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	373						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGGACAGAAGCGTATCTTATC	0.468												
ANKRD34A	284615	broad.mit.edu	37	1	145474607	145474607	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:145474607C>A	uc001enq.1	+	4	2572	c.1279C>A	c.(1279-1281)CCT>ACT	p.P427T	NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	427	Pro-rich.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTCCTACCCCCTCTCAACGT	0.687												
PIAS3	10401	broad.mit.edu	37	1	145578119	145578119	+	Missense_Mutation	SNP	C	C	T	rs142721064		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:145578119C>T	uc001eoc.1	+	2	173	c.82C>T	c.(82-84)CGG>TGG	p.R28W	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.R19W|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	28	SAP.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTTGCTGGCCGGAACAAGAG	0.542												
PRPF3	9129	broad.mit.edu	37	1	150318544	150318544	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:150318544C>T	uc001eum.3	+	13	1853	c.1691C>T	c.(1690-1692)GCT>GTT	p.A564V	PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.A523V|PRPF3_uc010pcb.1_Missense_Mutation_p.A515V|PRPF3_uc009wlq.1_RNA	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	564					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GAAGCCAATGCTGGGCAACTG	0.483												
RPRD2	23248	broad.mit.edu	37	1	150444786	150444786	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:150444786G>A	uc009wlr.2	+	11	3563	c.3362G>A	c.(3361-3363)CGT>CAT	p.R1121H	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1095H	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1121							protein binding			ovary(1)	1						GGACATGGGCGTGAGGCTTCA	0.542												
LYSMD1	388695	broad.mit.edu	37	1	151133390	151133390	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:151133390G>A	uc001ewy.2	-	3	1288	c.652C>T	c.(652-654)CGG>TGG	p.R218W	LYSMD1_uc010pcr.1_Missense_Mutation_p.R170W	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain	218					cell wall macromolecule catabolic process						0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTGGTCCCGTAGTGTCCGG	0.567												
HRNR	388697	broad.mit.edu	37	1	152191933	152191933	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:152191933G>A	uc001ezt.1	-	3	2248	c.2172C>T	c.(2170-2172)TCC>TCT	p.S724S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	724	7.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGTAGCCGGAGGAGTGAC	0.542												
KIRREL	55243	broad.mit.edu	37	1	158064489	158064489	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:158064489G>T	uc001frn.3	+	15	2257	c.1853G>T	c.(1852-1854)AGG>ATG	p.R618M	KIRREL_uc010pib.1_Missense_Mutation_p.R518M|KIRREL_uc009wsq.2_Missense_Mutation_p.R454M|KIRREL_uc001fro.3_Missense_Mutation_p.R432M|uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	618	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CCGTCTTCCAGGGCAGTGCTC	0.637												
OR10J5	127385	broad.mit.edu	37	1	159505663	159505663	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:159505663A>G	uc010piw.1	-	1	135	c.135T>C	c.(133-135)ATT>ATC	p.I45I		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)					TGATAGTCACAATGATGATGT	0.413												
ATP1A2	477	broad.mit.edu	37	1	160106150	160106150	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:160106150C>T	uc001fvc.2	+	18	2685	c.2553C>T	c.(2551-2553)TAC>TAT	p.Y851Y	ATP1A2_uc001fvb.2_Silent_p.Y851Y|ATP1A2_uc001fvd.2_Silent_p.Y587Y	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	851	Helical; (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCATGGCCTACGGACAGATCG	0.577												
ADAMTS4	9507	broad.mit.edu	37	1	161160941	161160941	+	Missense_Mutation	SNP	G	G	A	rs114600134	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:161160941G>A	uc001fyt.3	-	9	2929	c.2501C>T	c.(2500-2502)GCG>GTG	p.A834V		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	834	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTTCCTGCCCGCCCAGGGGCG	0.637												
F5	2153	broad.mit.edu	37	1	169511840	169511840	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:169511840G>T	uc001ggg.1	-	13	2633	c.2488C>A	c.(2488-2490)CCA>ACA	p.P830T		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	830	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCAGAATATGGGCTGGAATGC	0.488												
F5	2153	broad.mit.edu	37	1	169511874	169511874	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:169511874T>C	uc001ggg.1	-	13	2599	c.2454A>G	c.(2452-2454)TCA>TCG	p.S818S		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	818	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AATTGAGAACTGAGTTCTTGC	0.488												
CACYBP	27101	broad.mit.edu	37	1	174976324	174976324	+	Missense_Mutation	SNP	T	T	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:174976324T>A	uc001gkj.1	+	4	848	c.423T>A	c.(421-423)AGT>AGA	p.S141R	CACYBP_uc001gki.1_Missense_Mutation_p.S98R	NM_014412	NP_055227	Q9HB71	CYBP_HUMAN	calcyclin binding protein isoform 1	141	Interaction with SKP1.|CS.					beta-catenin destruction complex	protein homodimerization activity				0						TGGAAGGCAGTTCAAAAAAAG	0.358												
ABL2	27	broad.mit.edu	37	1	179078099	179078099	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:179078099G>A	uc001gmj.3	-	12	2590	c.2303C>T	c.(2302-2304)CCC>CTC	p.P768L	ABL2_uc010pnf.1_Intron|ABL2_uc010png.1_Intron|ABL2_uc010pnh.1_Missense_Mutation_p.P747L|ABL2_uc001gmg.3_Intron|ABL2_uc001gmi.3_Missense_Mutation_p.P753L|ABL2_uc001gmh.3_Missense_Mutation_p.P732L|ABL2_uc010pne.1_Intron	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	768	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ACTGGCTGTGGGTTTACCTGC	0.532			T	ETV6	AML							
HMCN1	83872	broad.mit.edu	37	1	186008082	186008082	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:186008082C>T	uc001grq.1	+	38	6202	c.5973C>T	c.(5971-5973)TGC>TGT	p.C1991C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1991	Ig-like C2-type 17.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TATATAAATGCGTGGCCATCA	0.433												
HMCN1	83872	broad.mit.edu	37	1	186114898	186114898	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:186114898G>T	uc001grq.1	+	93	14680	c.14451G>T	c.(14449-14451)TGG>TGT	p.W4817C	HMCN1_uc001grs.1_Missense_Mutation_p.W386C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4817	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ATGGAAGTTGGGGAAGCTGGC	0.502												
ZBTB41	360023	broad.mit.edu	37	1	197144169	197144169	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:197144169G>A	uc001gtx.1	-	8	2025	c.1956C>T	c.(1954-1956)AGC>AGT	p.S652S	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	652	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CAAGGTGTACGCTTTTGTAAT	0.353												
PPP1R12B	4660	broad.mit.edu	37	1	202409874	202409874	+	Missense_Mutation	SNP	G	G	T	rs111305872		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:202409874G>T	uc001gya.1	+	11	1643	c.1499G>T	c.(1498-1500)CGG>CTG	p.R500L	PPP1R12B_uc001gxz.1_Missense_Mutation_p.R500L	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	500					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTAGCACCCCGGAAGCTCAAC	0.388												
CNTN2	6900	broad.mit.edu	37	1	205033795	205033795	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:205033795G>A	uc001hbr.2	+	12	1705	c.1436G>A	c.(1435-1437)AGC>AAC	p.S479N	CNTN2_uc001hbq.1_Missense_Mutation_p.S370N|CNTN2_uc001hbs.2_Missense_Mutation_p.S267N	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	479	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAAACATCAGCCGGTCAGAT	0.527												
TMCC2	9911	broad.mit.edu	37	1	205210709	205210709	+	Missense_Mutation	SNP	G	G	A	rs138497244	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:205210709G>A	uc001hbz.1	+	3	728	c.284G>A	c.(283-285)CGG>CAG	p.R95Q	TMCC2_uc010prf.1_Missense_Mutation_p.R17Q	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	95						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGTCGGTCTCGGGAAAGGGAG	0.587												
TMCC2	9911	broad.mit.edu	37	1	205210851	205210851	+	Silent	SNP	C	C	T	rs140397839		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:205210851C>T	uc001hbz.1	+	3	870	c.426C>T	c.(424-426)CCC>CCT	p.P142P	TMCC2_uc010prf.1_Silent_p.P64P	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	142						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACGACCTGCCCGCCCGGCCCA	0.597												
CDK18	5129	broad.mit.edu	37	1	205492350	205492350	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:205492350C>A	uc001hcr.2	+	2	274	c.55C>A	c.(55-57)CGC>AGC	p.R19S	CDK18_uc009xbk.1_Intron|CDK18_uc009xbl.1_RNA|CDK18_uc010pri.1_5'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.R19S|CDK18_uc001hcq.2_Missense_Mutation_p.R19S|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	17							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						GTCAGTGCCCCGCACTGAGAC	0.552												
NUCKS1	64710	broad.mit.edu	37	1	205687461	205687461	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:205687461C>T	uc001hdb.2	-	7	939	c.679G>A	c.(679-681)GAG>AAG	p.E227K		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent	227						nucleus					0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCAGATTTCTCGGGTGGGGGG	0.438												
USH2A	7399	broad.mit.edu	37	1	215956110	215956110	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:215956110A>G	uc001hku.1	-	53	10942	c.10555T>C	c.(10555-10557)TTA>CTA	p.L3519L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3519	Extracellular (Potential).|Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCAGTTTAAGACAATTGTA	0.348										HNSCC(13;0.011)		
MIA3	375056	broad.mit.edu	37	1	222802330	222802330	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:222802330G>A	uc001hnl.2	+	4	1777	c.1768G>A	c.(1768-1770)GCA>ACA	p.A590T	MIA3_uc009xea.1_Missense_Mutation_p.A426T	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	590	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		CCACCCTAACGCATCCAGAGA	0.483												
LIN9	286826	broad.mit.edu	37	1	226426763	226426763	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:226426763T>C	uc001hqa.2	-	12	1512	c.1202A>G	c.(1201-1203)CAG>CGG	p.Q401R	LIN9_uc001hqb.2_Missense_Mutation_p.Q366R|LIN9_uc001hqc.2_Missense_Mutation_p.Q333R|LIN9_uc009xel.1_Missense_Mutation_p.Q366R	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	385	Potential.				cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATATCTCCGCTGAAATTCAAT	0.353												
OBSCN	84033	broad.mit.edu	37	1	228509303	228509303	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:228509303G>A	uc009xez.1	+	55	14805	c.14761G>A	c.(14761-14763)GTG>ATG	p.V4921M	OBSCN_uc001hsn.2_Missense_Mutation_p.V4921M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4921	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGAGTGTGTCGTGGCCAGCAA	0.637												
SIPA1L2	57568	broad.mit.edu	37	1	232561511	232561511	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:232561511C>T	uc001hvg.2	-	16	4612	c.4454G>A	c.(4453-4455)CGC>CAC	p.R1485H	SIPA1L2_uc001hvf.2_Missense_Mutation_p.R559H	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1485					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGACAGCGTGCGGTAAAGCGA	0.542												
PCNXL2	80003	broad.mit.edu	37	1	233136126	233136126	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:233136126G>A	uc001hvl.2	-	30	5488	c.5253C>T	c.(5251-5253)CAC>CAT	p.H1751H	PCNXL2_uc001hvk.1_Silent_p.H403H|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1751						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				CGTCCACCACGTGCCGCAGGG	0.607												
CHRM3	1131	broad.mit.edu	37	1	240070882	240070882	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:240070882G>A	uc001hyp.2	+	5	910	c.131G>A	c.(130-132)CGA>CAA	p.R44Q		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	44	Extracellular (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AATGTTTCTCGAGCAGCTGGC	0.557												
ZNF496	84838	broad.mit.edu	37	1	247464040	247464040	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:247464040G>A	uc001ico.2	-	9	2010	c.1545C>T	c.(1543-1545)AAC>AAT	p.N515N	ZNF496_uc009xgv.2_Silent_p.N551N|ZNF496_uc001icp.2_Silent_p.N515N	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	515					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGCCTTGCCGTTTTCCAGCG	0.632												
MLLT10	8028	broad.mit.edu	37	10	22002772	22002772	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:22002772G>A	uc001iqs.2	+	15	2167	c.1819G>A	c.(1819-1821)GTC>ATC	p.V607I	MLLT10_uc001iqt.2_Missense_Mutation_p.V591I|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.V591I|MLLT10_uc001ira.2_Missense_Mutation_p.V48I|MLLT10_uc001irb.2_RNA	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	607	DNA-binding.				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						TAGTACTCCTGTCTCCAGCTC	0.443			T	MLL|PICALM|CDK6	AL							
FRMPD2	143162	broad.mit.edu	37	10	49440209	49440209	+	Missense_Mutation	SNP	A	A	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:49440209A>T	uc001jgi.2	-	10	1224	c.1117T>A	c.(1117-1119)TCC>ACC	p.S373T	FRMPD2_uc001jgh.2_Missense_Mutation_p.S342T|FRMPD2_uc001jgj.2_Missense_Mutation_p.S351T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	373	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		TTGGCAAAGGATGTCACGGCA	0.532												
C10orf72	196740	broad.mit.edu	37	10	50315809	50315809	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:50315809C>T	uc001jhf.2	-	2	316	c.287G>A	c.(286-288)CGG>CAG	p.R96Q	C10orf72_uc001jhh.2_Missense_Mutation_p.R96Q	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	96	Ig-like.|Extracellular (Potential).					integral to membrane|plasma membrane					0						CAGCCTCCGCCGTTTGGCGCT	0.607												
DRGX	644168	broad.mit.edu	37	10	50574403	50574403	+	Missense_Mutation	SNP	C	C	T	rs143541395	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:50574403C>T	uc010qgq.1	-	6	565	c.565G>A	c.(565-567)GTC>ATC	p.V189I		NM_001080520	NP_001073989	A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	189					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGTCTGGGACGCAGCAAGAG	0.607												
NCOA4	8031	broad.mit.edu	37	10	51584688	51584688	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:51584688A>G	uc001jis.3	+	8	990	c.787A>G	c.(787-789)AAG>GAG	p.K263E	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.K279E|NCOA4_uc010qhd.1_Missense_Mutation_p.K279E|NCOA4_uc010qhe.1_Missense_Mutation_p.K163E|NCOA4_uc010qhf.1_Missense_Mutation_p.K97E|NCOA4_uc001jit.2_Missense_Mutation_p.K263E|NCOA4_uc009xoo.2_Missense_Mutation_p.K263E	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	263					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						CTGGCTCCTCAAGAGTGAAAA	0.388			T	RET	papillary thyroid 							
FAM21A	387680	broad.mit.edu	37	10	51829407	51829407	+	Missense_Mutation	SNP	A	A	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:51829407A>T	uc001jjb.2	+	3	309	c.227A>T	c.(226-228)GAT>GTT	p.D76V	uc001jiz.1_5'Flank|FAM21A_uc001jja.1_5'UTR|FAM21A_uc010qhi.1_Missense_Mutation_p.D76V|FAM21A_uc010qhj.1_Missense_Mutation_p.D76V	NM_001005751	NP_001005751	Q641Q2	FA21A_HUMAN	hypothetical protein LOC387680	76					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				ovary(1)	1						AAAGCCACAGATTGTCGCCTG	0.383												
CTNNA3	29119	broad.mit.edu	37	10	68940148	68940148	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:68940148C>T	uc009xpn.1	-	7	1097	c.974G>A	c.(973-975)CGA>CAA	p.R325Q	CTNNA3_uc001jmw.2_Missense_Mutation_p.R325Q|CTNNA3_uc001jmx.3_Missense_Mutation_p.R325Q|CTNNA3_uc009xpo.1_Missense_Mutation_p.R185Q|CTNNA3_uc001jna.2_Missense_Mutation_p.R337Q	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	325	Potential.				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						AATCCGCTCTCGGTGTAAGTC	0.512												
PSAP	5660	broad.mit.edu	37	10	73581689	73581689	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:73581689C>T	uc001jsm.2	-	8	957	c.853G>A	c.(853-855)GCC>ACC	p.A285T	PSAP_uc001jsl.2_Missense_Mutation_p.A9T	NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	285					glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						GCCACTTTGGCGGGGACCAGA	0.542												
EIF5AL1	143244	broad.mit.edu	37	10	81272626	81272626	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:81272626C>T	uc009xrx.2	+	1	270	c.221C>T	c.(220-222)CCG>CTG	p.P74L	uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like	74					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GATATCTGCCCGTCAACTCAT	0.498												
ANXA11	311	broad.mit.edu	37	10	81915622	81915622	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:81915622C>T	uc001kbq.1	-	17	2330	c.1505G>A	c.(1504-1506)GGT>GAT	p.G502D	ANXA11_uc010qlx.1_Missense_Mutation_p.G602D|ANXA11_uc001kbr.1_Missense_Mutation_p.G502D|ANXA11_uc001kbs.1_Missense_Mutation_p.G502D|ANXA11_uc001kbt.1_Missense_Mutation_p.G502D|ANXA11_uc010qly.1_Missense_Mutation_p.G469D|ANXA11_uc009xsq.1_Missense_Mutation_p.G506D|ANXA11_uc001kbu.1_Missense_Mutation_p.G502D	NM_145869	NP_665876	P50995	ANX11_HUMAN	annexin A11	502					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			ovary(1)	1	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GTCATTGCCACCACAGATCTT	0.507												
C10orf28	27291	broad.mit.edu	37	10	99968718	99968718	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:99968718G>T	uc001kow.3	+	4	1142	c.847G>T	c.(847-849)GAT>TAT	p.D283Y	C10orf28_uc001kox.3_Missense_Mutation_p.D283Y|C10orf28_uc001koy.3_Missense_Mutation_p.D283Y|C10orf28_uc009xvx.2_Missense_Mutation_p.D283Y|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	283							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		AACTTGCGTAGATTTTGAAGT	0.423												
LOXL4	84171	broad.mit.edu	37	10	100016575	100016575	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:100016575G>A	uc001kpa.1	-	9	1541	c.1390C>T	c.(1390-1392)CGA>TGA	p.R464*		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	464	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CCGAGCTGTCGGCAGGCCACC	0.602												
DNMBP	23268	broad.mit.edu	37	10	101728961	101728961	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:101728961G>A	uc001kqj.2	-	3	271	c.179C>T	c.(178-180)ACC>ATC	p.T60I		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	60	SH3 1.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ACTGGGAATGGTCACAATTTC	0.408												
PKD2L1	9033	broad.mit.edu	37	10	102048787	102048787	+	Silent	SNP	C	C	A	rs140831551		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:102048787C>A	uc001kqx.1	-	15	2660	c.2277G>T	c.(2275-2277)CCG>CCT	p.P759P	BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Silent_p.P712P	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	759	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGGCTGGCTGCGGGTGCTTCC	0.517												
SEMA4G	57715	broad.mit.edu	37	10	102732747	102732747	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:102732747G>A	uc010qpt.1	+	2	521	c.78G>A	c.(76-78)CCG>CCA	p.P26P	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Silent_p.P26P|SEMA4G_uc001krx.2_Silent_p.P26P|MIR608_hsa-mir-608|MI0003621_5'Flank	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	26	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TGCGGAGACCGTCTAGAGAAC	0.607												
LZTS2	84445	broad.mit.edu	37	10	102762318	102762318	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:102762318C>T	uc001ksj.2	+	2	92	c.23C>T	c.(22-24)CCA>CTA	p.P8L	LZTS2_uc010qpw.1_Missense_Mutation_p.P8L|LZTS2_uc001ksk.2_Missense_Mutation_p.P8L|LZTS2_uc001ksl.2_Missense_Mutation_p.P8L|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	8	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CAGACTCTGCCAGTGCCACTG	0.657												
FBXW4	6468	broad.mit.edu	37	10	103436163	103436163	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:103436163C>T	uc001kto.2	-	2	637	c.291G>A	c.(289-291)GTG>GTA	p.V97V		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	97					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GAGACACCTTCACTCGTTCCT	0.478												
ELOVL3	83401	broad.mit.edu	37	10	103987432	103987432	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:103987432G>T	uc001kut.2	+	2	314	c.151G>T	c.(151-153)GGG>TGG	p.G51W		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	elongation of very long chain fatty acids like	51					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			ovary(2)	2		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CATCGCTGTGGGGCAGAACTA	0.557												
PSD	5662	broad.mit.edu	37	10	104176728	104176728	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:104176728C>T	uc001kvg.1	-	2	595	c.68G>A	c.(67-69)CGC>CAC	p.R23H	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.R23H|PSD_uc001kvi.1_Missense_Mutation_p.R23H|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	23	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAGCCAGCGGCGTGGGCATCG	0.711												
INA	9118	broad.mit.edu	37	10	105046856	105046856	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:105046856G>A	uc001kws.2	+	2	1179	c.1130G>A	c.(1129-1131)CGG>CAG	p.R377Q		NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	377	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CGCCACCTTCGGGAATACCAG	0.463												
PDCD11	22984	broad.mit.edu	37	10	105201638	105201638	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:105201638C>T	uc001kwy.1	+	31	4700	c.4613C>T	c.(4612-4614)GCT>GTT	p.A1538V		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1538					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCAGGCTTCGCTTGGAATGTG	0.597												
CALHM2	51063	broad.mit.edu	37	10	105209489	105209489	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:105209489G>A	uc001kwz.2	-	2	596	c.210C>T	c.(208-210)ATC>ATT	p.I70I	CALHM2_uc001kxa.2_Silent_p.I70I|CALHM2_uc001kxc.2_Silent_p.I70I|CALHM2_uc001kxb.2_Silent_p.I70I|CALHM2_uc001kxd.1_Silent_p.I70I	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	70	Helical; (Potential).					integral to membrane				skin(1)	1						TGATGCCAATGATGAAGAGCA	0.642												
KIAA1598	57698	broad.mit.edu	37	10	118674916	118674916	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:118674916G>A	uc009xyw.2	-	13	1773	c.1275C>T	c.(1273-1275)CCC>CCT	p.P425P	KIAA1598_uc001lcz.3_Silent_p.P425P|KIAA1598_uc010qso.1_Silent_p.P365P|KIAA1598_uc010qsp.1_Silent_p.P425P|KIAA1598_uc010qsq.1_Silent_p.P365P|KIAA1598_uc001lcy.3_Silent_p.P395P	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	425					axon guidance	axon					0				all cancers(201;0.00494)		TCTGATTAACGGGTCTAAGAT	0.363												
C10orf46	143384	broad.mit.edu	37	10	120460914	120460914	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:120460914A>G	uc001lds.1	-	5	1184	c.700T>C	c.(700-702)TTT>CTT	p.F234L	C10orf46_uc010qst.1_RNA	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	234					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		TCGATGTAAAACTTATTCTGA	0.299												
WDR11	55717	broad.mit.edu	37	10	122661812	122661812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:122661812C>T	uc010qtf.1	+	22	2969	c.2731C>T	c.(2731-2733)CAG>TAG	p.Q911*	WDR11_uc010qte.1_Nonsense_Mutation_p.Q513*|WDR11_uc001lfd.1_Nonsense_Mutation_p.Q429*|WDR11_uc009xzn.2_Nonsense_Mutation_p.Q202*	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	911	WD 9.					integral to membrane					0						CACTCTCTTGCAGAGGTGCCT	0.343												
ADAM12	8038	broad.mit.edu	37	10	127753389	127753389	+	Missense_Mutation	SNP	G	G	A	rs149776150		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:127753389G>A	uc001ljk.2	-	14	2017	c.1604C>T	c.(1603-1605)ACG>ATG	p.T535M	ADAM12_uc010qul.1_Missense_Mutation_p.T486M|ADAM12_uc001ljm.2_Missense_Mutation_p.T535M|ADAM12_uc001ljn.2_Missense_Mutation_p.T532M|ADAM12_uc001ljl.3_Missense_Mutation_p.T532M	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	535	Extracellular (Potential).|Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TCCCCAGAGCGTGACACACTG	0.602												
PTPRE	5791	broad.mit.edu	37	10	129881102	129881102	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:129881102T>C	uc001lkb.2	+	21	2314	c.2035T>C	c.(2035-2037)TAT>CAT	p.Y679H	PTPRE_uc009yat.2_Missense_Mutation_p.Y690H|PTPRE_uc009yau.2_Missense_Mutation_p.Y679H|PTPRE_uc001lkd.2_Missense_Mutation_p.Y621H|PTPRE_uc010quq.1_Silent_p.S534S	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	679	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TCAGGAACAGTATGAATTCTG	0.254												
MKI67	4288	broad.mit.edu	37	10	129899944	129899944	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:129899944G>A	uc001lke.2	-	14	9478	c.9283C>T	c.(9283-9285)CGC>TGC	p.R3095C	MKI67_uc001lkf.2_Missense_Mutation_p.R2735C	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3095					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTATTTTGGCGTCTGGAGCGC	0.368												
MUC2	4583	broad.mit.edu	37	11	1085825	1085825	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:1085825T>C	uc001lsx.1	+	21	2773	c.2746T>C	c.(2746-2748)TGC>CGC	p.C916R		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	916	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGGCGTCACCTGCTCCAAGGC	0.642												
OR51E1	143503	broad.mit.edu	37	11	4674184	4674184	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:4674184G>A	uc001lzi.3	+	2	572	c.428G>A	c.(427-429)CGT>CAT	p.R143H		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGTTGCCTCGTGTCACCAAA	0.567												
OR51B2	79345	broad.mit.edu	37	11	5345106	5345106	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:5345106G>A	uc001mao.1	-	1	477	c.422C>T	c.(421-423)GCG>GTG	p.A141V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTCCTAACGCTATGACTCT	0.413												
DCHS1	8642	broad.mit.edu	37	11	6662451	6662451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:6662451G>A	uc001mem.1	-	2	804	c.394C>T	c.(394-396)CGA>TGA	p.R132*		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	132	Cadherin 1.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGCCACTCGCACTGTAACT	0.612												
SBF2	81846	broad.mit.edu	37	11	9861197	9861197	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:9861197G>A	uc001mib.2	-	26	3441	c.3303C>T	c.(3301-3303)TCC>TCT	p.S1101S	SBF2_uc001mif.3_Silent_p.S857S|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1101					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TAGACTTCTCGGAGGCCTTCA	0.453												
BTBD10	84280	broad.mit.edu	37	11	13435172	13435172	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:13435172C>T	uc001mkz.2	-	6	970	c.713G>A	c.(712-714)CGT>CAT	p.R238H	BTBD10_uc010rcl.1_Missense_Mutation_p.R246H|BTBD10_uc001mla.2_Missense_Mutation_p.R222H|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.R190H|BTBD10_uc010rcn.1_Missense_Mutation_p.R207H|BTBD10_uc009ygo.2_Missense_Mutation_p.R190H	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	238	BTB.					nucleus					0				Epithelial(150;0.0214)		ATCAGGACAACGGATTATTCC	0.338												
NAV2	89797	broad.mit.edu	37	11	19735450	19735450	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:19735450C>T	uc010rdm.1	+	1	570	c.209C>T	c.(208-210)GCG>GTG	p.A70V	NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Missense_Mutation_p.A70V|LOC100126784_uc010rdl.1_3'UTR	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	70						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CAGGAGCCAGCGGGGGAGGGG	0.617												
GAS2	2620	broad.mit.edu	37	11	22707287	22707287	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:22707287T>C	uc009yie.2	+	3	525	c.219T>C	c.(217-219)ACT>ACC	p.T73T	GAS2_uc001mqm.2_Silent_p.T73T|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Silent_p.T73T	NM_001143830	NP_001137302	O43903	GAS2_HUMAN	growth arrest-specific 2	73	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				ovary(1)|skin(1)	2						TTGCAGAAACTATGCAGGAGA	0.378												
MADD	8567	broad.mit.edu	37	11	47303960	47303960	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:47303960G>A	uc001ner.1	+	9	1689	c.1498G>A	c.(1498-1500)GCC>ACC	p.A500T	MADD_uc001neq.2_Missense_Mutation_p.A500T|MADD_uc001nev.1_Missense_Mutation_p.A500T|MADD_uc001nes.1_Missense_Mutation_p.A500T|MADD_uc001net.1_Missense_Mutation_p.A500T|MADD_uc009yln.1_Missense_Mutation_p.A500T|MADD_uc001neu.1_Missense_Mutation_p.A500T|MADD_uc001nex.2_Missense_Mutation_p.A500T|MADD_uc001nez.2_Missense_Mutation_p.A500T|MADD_uc001new.2_Missense_Mutation_p.A500T	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	500	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CTTCAATTCCGCCAACGTGCT	0.522												
OR5M9	390162	broad.mit.edu	37	11	56230191	56230191	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:56230191G>A	uc010rjj.1	-	1	687	c.687C>T	c.(685-687)GCC>GCT	p.A229A		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					TCCTGCCATCGGCAGAGCGCA	0.502												
OR9G4	283189	broad.mit.edu	37	11	56511005	56511005	+	Missense_Mutation	SNP	T	T	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:56511005T>G	uc010rjo.1	-	1	283	c.283A>C	c.(283-285)AAA>CAA	p.K95Q		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GCCAGGATTTTGGGGGTATAC	0.428												
OR5A1	219982	broad.mit.edu	37	11	59211321	59211321	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:59211321C>T	uc001nnx.1	+	1	680	c.680C>T	c.(679-681)GCG>GTG	p.A227V		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						ATAGTGTCTGCGGTCCTGAAG	0.532												
AHNAK	79026	broad.mit.edu	37	11	62298947	62298947	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:62298947T>C	uc001ntl.2	-	5	3242	c.2942A>G	c.(2941-2943)GAT>GGT	p.D981G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	981					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGCACTGACATCTACTTTTGG	0.458												
SLC22A8	9376	broad.mit.edu	37	11	62760982	62760982	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:62760982G>A	uc001nwo.2	-	10	1579	c.1443C>T	c.(1441-1443)ACC>ACT	p.T481T	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Silent_p.T481T|SLC22A8_uc009yom.2_Silent_p.T358T|SLC22A8_uc010rmm.1_Silent_p.T390T|SLC22A8_uc009yon.2_Silent_p.T481T	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	481	Helical; (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						CGAGGAGGGCGGTGATCCCGT	0.577												
KCNK4	50801	broad.mit.edu	37	11	64066960	64066960	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:64066960G>A	uc001nzj.1	+	7	1267	c.944G>A	c.(943-945)GGC>GAC	p.G315D	KCNK4_uc001nzk.1_Silent_p.G199G|KCNK4_uc010rnk.1_Missense_Mutation_p.G143D|KCNK4_uc001nzl.1_Silent_p.G199G|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.G315D|KCNK4_uc001nzo.2_Missense_Mutation_p.G315D|KCNK4_uc001nzp.1_Missense_Mutation_p.G201D|C11orf20_uc009ypm.2_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	TRAAK	315	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						CAGCCGCTGGGCAGGCCCCGA	0.617												
MRPL49	740	broad.mit.edu	37	11	64893016	64893016	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:64893016G>A	uc001oda.1	+	3	377	c.286G>A	c.(286-288)GTC>ATC	p.V96I	MRPL49_uc001ocz.1_RNA	NM_004927	NP_004918	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	96					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						CAACATCCCCGTCTACAAGGA	0.557												
EHBP1L1	254102	broad.mit.edu	37	11	65347416	65347416	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:65347416G>A	uc001oeo.3	+	4	533	c.268G>A	c.(268-270)GTG>ATG	p.V90M	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	90										central_nervous_system(1)	1						GGACCCCCACGTGGACCAGTA	0.552												
PCNXL3	399909	broad.mit.edu	37	11	65397039	65397039	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:65397039G>A	uc001oey.2	+	26	4049	c.4049G>A	c.(4048-4050)CGT>CAT	p.R1350H	PCNXL3_uc001oez.2_Missense_Mutation_p.R237H	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1350						integral to membrane					0						CACTTGACACGTTCGCTGCAG	0.567												
SF3B2	10992	broad.mit.edu	37	11	65835515	65835515	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:65835515C>T	uc001ogy.1	+	20	2469	c.2429C>T	c.(2428-2430)ACG>ATG	p.T810M	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	810					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						GACATGTCCACGGTGAGTACT	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PELI3	246330	broad.mit.edu	37	11	66238782	66238782	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:66238782G>A	uc001oic.3	+	4	458	c.294G>A	c.(292-294)TCG>TCA	p.S98S	PELI3_uc001oib.2_Silent_p.S98S|PELI3_uc001oid.3_Silent_p.S74S|PELI3_uc001oie.3_5'UTR|PELI3_uc010rpd.1_5'Flank	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	98						cytosol	protein binding			ovary(1)	1						GCCGCCGGTCGCACGCCAACG	0.627												
MAP6	4135	broad.mit.edu	37	11	75298881	75298881	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:75298881T>C	uc001owu.2	-	4	1730	c.1665A>G	c.(1663-1665)GTA>GTG	p.V555V		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	555	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					GAGACTCTGGTACCACAGAGC	0.502												
AQP11	282679	broad.mit.edu	37	11	77301362	77301362	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:77301362C>T	uc001oyj.2	+	1	683	c.325C>T	c.(325-327)CTG>TTG	p.L109L	AQP11_uc009yuu.2_Intron	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	aquaporin 11	109						cell surface|integral to membrane	transporter activity				0	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GCAGATGATGCTGGGGGGCAT	0.622												
ODZ4	26011	broad.mit.edu	37	11	78369475	78369475	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:78369475G>A	uc001ozl.3	-	34	8401	c.7938C>T	c.(7936-7938)AAC>AAT	p.N2646N	ODZ4_uc001ozk.3_Silent_p.N871N|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2646	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						ACACAGTGACGTTGACCCCAT	0.562												
GRIA4	2893	broad.mit.edu	37	11	105781166	105781166	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:105781166T>C	uc001pix.2	+	10	1610	c.1164T>C	c.(1162-1164)GGT>GGC	p.G388G	GRIA4_uc001piu.1_Silent_p.G388G|GRIA4_uc001piw.2_Silent_p.G388G|GRIA4_uc009yxk.1_Silent_p.G388G	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	388	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGCAGGTTGGTTACTGGAATG	0.358												
NPAT	4863	broad.mit.edu	37	11	108032226	108032226	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:108032226C>T	uc001pjz.3	-	17	3689	c.3587G>A	c.(3586-3588)CGA>CAA	p.R1196Q	NPAT_uc010rvv.1_Missense_Mutation_p.R252Q	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	1196					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTTCTCACTTCGCAAACCCCC	0.368												
PHLDB1	23187	broad.mit.edu	37	11	118516346	118516346	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:118516346T>C	uc001ptr.1	+	17	3747	c.3394T>C	c.(3394-3396)TGC>CGC	p.C1132R	PHLDB1_uc001pts.2_Missense_Mutation_p.C1132R|PHLDB1_uc001ptt.2_Missense_Mutation_p.C1085R|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.C947R|PHLDB1_uc001ptw.1_Missense_Mutation_p.C487R|PHLDB1_uc009zai.1_Missense_Mutation_p.C168R|PHLDB1_uc001ptx.1_Missense_Mutation_p.C168R|PHLDB1_uc010ryi.1_Missense_Mutation_p.C275R	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1132											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CAACTCGGCCTGCTCCCCTGA	0.642												
MFRP	83552	broad.mit.edu	37	11	119212402	119212402	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:119212402G>A	uc001pwj.2	-	13	1756	c.1596C>T	c.(1594-1596)GGC>GGT	p.G532G	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.G414G	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCAGAACACTGCCTAGTGGGG	0.647												
PRDM10	56980	broad.mit.edu	37	11	129788598	129788598	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:129788598G>A	uc001qfm.2	-	15	2294	c.2062C>T	c.(2062-2064)CGG>TGG	p.R688W	PRDM10_uc001qfj.2_Missense_Mutation_p.R602W|PRDM10_uc001qfk.2_Missense_Mutation_p.R598W|PRDM10_uc001qfl.2_Missense_Mutation_p.R602W|PRDM10_uc010sbx.1_Missense_Mutation_p.R598W|PRDM10_uc001qfn.2_Missense_Mutation_p.R684W|PRDM10_uc009zcs.1_5'Flank	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	688	C2H2-type 7.				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)		ATGTGTTCCCGTAGTTTGTCT	0.458												
SNX19	399979	broad.mit.edu	37	11	130750601	130750601	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:130750601T>C	uc001qgk.3	-	9	3222	c.2674A>G	c.(2674-2676)AAG>GAG	p.K892E	SNX19_uc009zcw.2_Missense_Mutation_p.K129E|SNX19_uc010sce.1_Missense_Mutation_p.K272E|SNX19_uc010scf.1_Missense_Mutation_p.K335E|SNX19_uc010scg.1_Missense_Mutation_p.K129E	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	892					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CGTGGAAACTTAGGCAAAACT	0.537												
NCAPD3	23310	broad.mit.edu	37	11	134047223	134047223	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:134047223C>T	uc001qhd.1	-	23	3518	c.2912G>A	c.(2911-2913)CGC>CAC	p.R971H	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	971					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GATGGTGTAGCGAATGCAGAG	0.507												
B4GALNT3	283358	broad.mit.edu	37	12	665815	665815	+	Silent	SNP	C	C	T	rs150429681	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:665815C>T	uc001qii.1	+	15	2163	c.2163C>T	c.(2161-2163)CGC>CGT	p.R721R	B4GALNT3_uc001qik.1_Silent_p.R270R	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	721	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AAGGCCAGCGCGTGGTGCGGC	0.622												
CACNA1C	775	broad.mit.edu	37	12	2659185	2659185	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:2659185C>T	uc009zdu.1	+	10	1780	c.1467C>T	c.(1465-1467)TGC>TGT	p.C489C	CACNA1C_uc009zdv.1_Silent_p.C486C|CACNA1C_uc001qkb.2_Silent_p.C489C|CACNA1C_uc001qkc.2_Silent_p.C489C|CACNA1C_uc001qke.2_Silent_p.C489C|CACNA1C_uc001qkf.2_Silent_p.C489C|CACNA1C_uc001qjz.2_Silent_p.C489C|CACNA1C_uc001qkd.2_Silent_p.C489C|CACNA1C_uc001qkg.2_Silent_p.C489C|CACNA1C_uc009zdw.1_Silent_p.C489C|CACNA1C_uc001qkh.2_Silent_p.C489C|CACNA1C_uc001qkl.2_Silent_p.C489C|CACNA1C_uc001qkn.2_Silent_p.C489C|CACNA1C_uc001qko.2_Silent_p.C489C|CACNA1C_uc001qkp.2_Silent_p.C489C|CACNA1C_uc001qkr.2_Silent_p.C489C|CACNA1C_uc001qku.2_Silent_p.C489C|CACNA1C_uc001qkq.2_Silent_p.C489C|CACNA1C_uc001qks.2_Silent_p.C489C|CACNA1C_uc001qkt.2_Silent_p.C489C|CACNA1C_uc001qka.1_Silent_p.C24C|CACNA1C_uc001qki.1_Silent_p.C225C|CACNA1C_uc001qkj.1_Silent_p.C225C|CACNA1C_uc001qkk.1_Silent_p.C225C|CACNA1C_uc001qkm.1_Silent_p.C225C|CACNA1C_uc009zdy.1_Silent_p.C114C|CACNA1C_uc001qkv.1_Silent_p.C59C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	489	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAGAAAACTGCGGGGCCAGGC	0.597												
KCNA5	3741	broad.mit.edu	37	12	5154231	5154231	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:5154231G>A	uc001qni.2	+	1	1147	c.918G>A	c.(916-918)CCG>CCA	p.P306P		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	306						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						TCATGGCCCCGCCCTCTGGCC	0.706												
GPR162	27239	broad.mit.edu	37	12	6933561	6933561	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:6933561G>A	uc001qqw.1	+	2	1032	c.497G>A	c.(496-498)CGC>CAC	p.R166H	GPR162_uc010sfn.1_Missense_Mutation_p.R166H|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	166	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TACTATGCCCGCGGCTGCCAG	0.587												
A2M	2	broad.mit.edu	37	12	9243798	9243798	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:9243798C>T	uc001qvk.1	-	19	2581	c.2468G>A	c.(2467-2469)CGG>CAG	p.R823Q	A2M_uc009zgk.1_Missense_Mutation_p.R673Q	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	823					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GATCCTTACCCGGATGCATTT	0.428												
C12orf59	120939	broad.mit.edu	37	12	10339095	10339095	+	Missense_Mutation	SNP	C	C	T	rs143637558	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:10339095C>T	uc001qxr.2	+	4	831	c.214C>T	c.(214-216)CGC>TGC	p.R72C	C12orf59_uc001qxq.2_Missense_Mutation_p.R52C			Q4KMG9	CL059_HUMAN	RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor;	72						integral to membrane				ovary(1)	1						CTGTCTGAGCCGCCAGCAAAA	0.582												
ETV6	2120	broad.mit.edu	37	12	12022435	12022435	+	Missense_Mutation	SNP	C	C	T	rs149660037	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:12022435C>T	uc001qzz.2	+	5	815	c.541C>T	c.(541-543)CGC>TGC	p.R181C	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	181						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACTGTTGCACCGCTCCAGGTC	0.602			T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL							
GSG1	83445	broad.mit.edu	37	12	13256440	13256440	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:13256440C>T	uc001rbn.2	-	1	180	c.7G>A	c.(7-9)GAT>AAT	p.D3N	GSG1_uc001rbo.2_Missense_Mutation_p.D3N|GSG1_uc001rbp.2_Missense_Mutation_p.D3N|GSG1_uc001rbq.1_Missense_Mutation_p.D3N	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	Error:Variant_position_missing_in_Q2KHT4_after_alignment						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TGAGAGGGATCGCTCATTCAC	0.428												
PLBD1	79887	broad.mit.edu	37	12	14688687	14688687	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:14688687C>T	uc001rcc.1	-	6	911	c.750G>A	c.(748-750)ACG>ACA	p.T250T		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	250					lipid catabolic process	extracellular region	hydrolase activity				0						TGGCTGCATACGTGTACCAGC	0.428												
GUCY2C	2984	broad.mit.edu	37	12	14825885	14825885	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:14825885G>A	uc001rcd.2	-	9	1229	c.1092C>T	c.(1090-1092)GAC>GAT	p.D364D		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	364	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						TCACTGGACCGTCATACCCTA	0.448												
RECQL	5965	broad.mit.edu	37	12	21639508	21639508	+	Missense_Mutation	SNP	C	C	T	rs138278747	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:21639508C>T	uc001rex.2	-	6	754	c.406G>A	c.(406-408)GTC>ATC	p.V136I	RECQL_uc001rey.2_Missense_Mutation_p.V136I	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	136	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						GGGCAAATGACGAGTGTAAAA	0.308								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
ARNTL2	56938	broad.mit.edu	37	12	27543174	27543174	+	Splice_Site	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:27543174T>C	uc001rht.1	+	9	937	c.919_splice	c.e9+2	p.E307_splice	ARNTL2_uc001rhw.2_Splice_Site_p.E270_splice|ARNTL2_uc010sjp.1_Splice_Site_p.E270_splice|ARNTL2_uc001rhu.1_Splice_Site_p.E293_splice|ARNTL2_uc009zji.1_Splice_Site_p.E273_splice|ARNTL2_uc001rhv.1_Splice_Site_p.E259_splice|uc001rhx.2_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear						circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					AGAAGAAAGGTATCATTTTGA	0.323												
PTHLH	5744	broad.mit.edu	37	12	28116577	28116577	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:28116577C>T	uc001rik.2	-	3	531	c.228G>A	c.(226-228)TCG>TCA	p.S76S	PTHLH_uc001ril.2_Silent_p.S76S|PTHLH_uc001rim.2_Silent_p.S76S|PTHLH_uc001rin.2_Silent_p.S76S	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	76					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)	1	Lung SC(9;0.184)					GGGACACCTCCGAGGTAGCTC	0.507												
CCDC91	55297	broad.mit.edu	37	12	28603309	28603309	+	Missense_Mutation	SNP	A	A	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:28603309A>C	uc001riq.2	+	9	898	c.882A>C	c.(880-882)GAA>GAC	p.E294D	CCDC91_uc001rio.2_Missense_Mutation_p.E264D|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.E294D|CCDC91_uc001rir.2_Missense_Mutation_p.E132D|CCDC91_uc009zjl.2_Missense_Mutation_p.E96D	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	GGA binding partner	294	Potential.|Homodimerization.				protein transport	Golgi apparatus|membrane				central_nervous_system(1)	1	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTGGAGGAAGAAAGGCAAA	0.328												
BICD1	636	broad.mit.edu	37	12	32480566	32480566	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:32480566G>A	uc001rku.2	+	5	1258	c.1177G>A	c.(1177-1179)GGG>AGG	p.G393R	BICD1_uc001rkv.2_Missense_Mutation_p.G393R|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	393	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGAGCTGGACGGGGAGAAGGG	0.582												
HDAC7	51564	broad.mit.edu	37	12	48189159	48189159	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:48189159G>A	uc010slo.1	-	11	1287	c.1092C>T	c.(1090-1092)CCC>CCT	p.P364P	HDAC7_uc001rqe.2_5'Flank|HDAC7_uc001rqj.3_Silent_p.P327P|HDAC7_uc001rqk.3_Silent_p.P347P	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	325	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		GCCCAAGCCCGGGCACTGGAA	0.632												
COL2A1	1280	broad.mit.edu	37	12	48379540	48379540	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:48379540G>A	uc001rqu.2	-	25	1832	c.1651C>T	c.(1651-1653)CCT>TCT	p.P551S	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.P482S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	551	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGTTCTCCAGGACGGCCAGGG	0.647												
FKBP11	51303	broad.mit.edu	37	12	49318420	49318420	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:49318420T>C	uc001rsp.2	-	3	326	c.207A>G	c.(205-207)GTA>GTG	p.V69V	FKBP11_uc010sma.1_5'UTR|FKBP11_uc001rsq.3_Silent_p.V69V|FKBP11_uc010smb.1_Silent_p.V69V	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11 isoform 1 precursor	69	PPIase FKBP-type.				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						TACGTCCATCTACCAAGCTTC	0.572											OREG0021773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NCKAP5L	57701	broad.mit.edu	37	12	50196893	50196893	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:50196893C>T	uc009zlk.2	-	4	381	c.179G>A	c.(178-180)CGC>CAC	p.R60H		NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	56	Potential.									central_nervous_system(1)	1						GTCCAGACAGCGCTCATAAGT	0.612												
KRT85	3891	broad.mit.edu	37	12	52754649	52754649	+	Silent	SNP	G	G	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:52754649G>C	uc001sag.2	-	9	1632	c.1512C>G	c.(1510-1512)GTC>GTG	p.V504V		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	504	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGCAAAGCGGACCGACCGGC	0.612												
KRT76	51350	broad.mit.edu	37	12	53170983	53170983	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:53170983G>A	uc001sax.2	-	1	147	c.93C>T	c.(91-93)AGC>AGT	p.S31S		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	31	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						GGGCCACACAGCTCATCCTGC	0.607												
KRT8	3856	broad.mit.edu	37	12	53292586	53292586	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:53292586A>G	uc001sbd.2	-	6	1182	c.1079T>C	c.(1078-1080)CTG>CCG	p.L360P	KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Missense_Mutation_p.L388P|KRT8_uc009zml.1_Missense_Mutation_p.L360P|KRT8_uc009zmm.1_Missense_Mutation_p.L360P	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	360	Necessary for interaction with PNN.|Rod.|Coil 2.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCCGCTGCAGGGCGGCCTC	0.637												
DNAJC14	85406	broad.mit.edu	37	12	56216886	56216886	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:56216886A>G	uc001shx.1	-	4	1806	c.1602T>C	c.(1600-1602)ACT>ACC	p.T534T	DNAJC14_uc001shu.1_Silent_p.T534T|DNAJC14_uc009zob.1_Silent_p.T534T	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	534					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						TACACATCATAGTATTCATTG	0.438												
LRP1	4035	broad.mit.edu	37	12	57556275	57556275	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:57556275G>A	uc001snd.2	+	14	2844	c.2378G>A	c.(2377-2379)CGA>CAA	p.R793Q		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	793	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.R793*(1)		ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTGAGATCCGAATGTATGAT	0.607												
KIF5A	3798	broad.mit.edu	37	12	57963882	57963882	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:57963882G>A	uc001sor.1	+	12	1438	c.1230G>A	c.(1228-1230)GCG>GCA	p.A410A	KIF5A_uc010srr.1_Silent_p.A321A	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	410					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						TGCGCATCGCGCCCGAGGAGC	0.642												
CTDSP2	10106	broad.mit.edu	37	12	58220861	58220861	+	Missense_Mutation	SNP	A	A	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:58220861A>C	uc001sqm.2	-	4	801	c.272T>G	c.(271-273)CTC>CGC	p.L91R	CTDSP2_uc010ssg.1_5'Flank|CTDSP2_uc009zqf.2_5'UTR|CTDSP2_uc009zqg.2_Intron|uc001sqn.2_5'Flank|MIR26A2_hsa-mir-26a-2|MI0000750_5'Flank	NM_005730	NP_005721	O14595	CTDS2_HUMAN	nuclear LIM interactor-interacting factor 2	91					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			central_nervous_system(1)	1	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					CACCTCTGGGAGCAGGCAGGT	0.493												
BEST3	144453	broad.mit.edu	37	12	70091427	70091427	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:70091427C>A	uc001svg.2	-	2	379	c.152G>T	c.(151-153)AGA>ATA	p.R51I	BEST3_uc001svd.1_Missense_Mutation_p.R51I|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	51	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGAAAAGTACCTGTATACCAA	0.368												
EPYC	1833	broad.mit.edu	37	12	91357958	91357958	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:91357958C>T	uc001tbk.2	-	7	1037	c.944G>A	c.(943-945)CGT>CAT	p.R315H		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	315					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						AACAGGCAGACGAGGTAGACA	0.383												
DRAM1	55332	broad.mit.edu	37	12	102302024	102302024	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:102302024G>A	uc001tix.2	+	4	866	c.403G>A	c.(403-405)GTG>ATG	p.V135M	DRAM1_uc010svv.1_Intron	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	135	Helical; (Potential).				apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1						CTGTGGTGTCGTGTACACGCT	0.502												
HSP90B1	7184	broad.mit.edu	37	12	104337021	104337021	+	Missense_Mutation	SNP	A	A	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:104337021A>C	uc001tkb.1	+	13	1919	c.1814A>C	c.(1813-1815)AAG>ACG	p.K605T	HSP90B1_uc010swg.1_Missense_Mutation_p.K270T|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	605					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			ovary(2)|skin(1)	3					Rifabutin(DB00615)	GAGAAAACTAAGGAGAGTCGT	0.423												
KIAA1033	23325	broad.mit.edu	37	12	105514941	105514941	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:105514941T>C	uc001tld.2	+	9	711	c.624T>C	c.(622-624)GAT>GAC	p.D208D	KIAA1033_uc010swr.1_Silent_p.D208D|KIAA1033_uc010sws.1_Silent_p.D20D	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	208					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						AAATTATTGATAATCATATCA	0.313												
SART3	9733	broad.mit.edu	37	12	108926011	108926011	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:108926011C>T	uc001tmz.1	-	13	1891	c.1656G>A	c.(1654-1656)ATG>ATA	p.M552I	SART3_uc001tmy.1_Missense_Mutation_p.M78I|SART3_uc009zux.1_Missense_Mutation_p.M164I|SART3_uc010swx.1_Missense_Mutation_p.M516I|SART3_uc010swy.1_Missense_Mutation_p.M438I|SART3_uc010swz.1_Missense_Mutation_p.M552I|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	552					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CTGTCCTCTCCATGGTGAGTA	0.582									Porokeratosis			
ANKRD13A	88455	broad.mit.edu	37	12	110475232	110475232	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:110475232G>A	uc001tpx.2	+	15	1905	c.1646G>A	c.(1645-1647)CGT>CAT	p.R549H	ANKRD13A_uc010sxw.1_Missense_Mutation_p.R548H|ANKRD13A_uc001tpy.2_Missense_Mutation_p.R149H|ANKRD13A_uc001tpz.2_Missense_Mutation_p.R187H|ANKRD13A_uc001tqa.2_3'UTR	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	549	UIM 2.										0						GAGACAAGCCGTTTTGATAAT	0.577												
SIRT4	23409	broad.mit.edu	37	12	120741725	120741725	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:120741725C>T	uc001tyc.2	+	2	381	c.361C>T	c.(361-363)CCT>TCT	p.P121S		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	121	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCCACCAGCCTAACCCTGC	0.577												
MLXIP	22877	broad.mit.edu	37	12	122613694	122613694	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:122613694C>T	uc001ubq.2	+	4	617	c.617C>T	c.(616-618)ACG>ATG	p.T206M	MLXIP_uc001ubr.2_Translation_Start_Site|MLXIP_uc001ubs.1_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	206	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GCCATCACCACGGAAGGGAAG	0.507												
PITPNM2	57605	broad.mit.edu	37	12	123497265	123497265	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:123497265C>T	uc001uej.1	-	4	449	c.310G>A	c.(310-312)GTG>ATG	p.V104M	PITPNM2_uc001uek.1_Missense_Mutation_p.V104M|PITPNM2_uc009zxu.1_Missense_Mutation_p.V104M|hsa-mir-4304|MI0015832_5'Flank	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	104					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AATTTCTCCACGAAAGGACAG	0.517												
RILPL1	353116	broad.mit.edu	37	12	123970232	123970232	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:123970232C>T	uc001ufe.2	-	5	1158	c.922G>A	c.(922-924)GAG>AAG	p.E308K	RILPL1_uc001ufd.2_Missense_Mutation_p.E157K|RILPL1_uc010tas.1_Missense_Mutation_p.E308K	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	308	RILP-like.				neuroprotection	cytosol					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GACTTGAGCTCGTTCCTCTCG	0.612												
DNAH10	196385	broad.mit.edu	37	12	124358132	124358132	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:124358132C>A	uc001uft.3	+	45	7484	c.7459C>A	c.(7459-7461)CGC>AGC	p.R2487S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2487	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTCTCCTCCCGCACCACGTC	0.448												
DNAH10	196385	broad.mit.edu	37	12	124413925	124413925	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:124413925C>T	uc001uft.3	+	70	12081	c.12056C>T	c.(12055-12057)CCG>CTG	p.P4019L	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4019	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCTTCAAGCCGCTGGTCTAC	0.527												
DNAH10	196385	broad.mit.edu	37	12	124414289	124414289	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:124414289A>G	uc001uft.3	+	71	12266	c.12241A>G	c.(12241-12243)AAG>GAG	p.K4081E	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4081	TPR 5.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGGCAGCCTCAAGTACCTAAT	0.562												
NCOR2	9612	broad.mit.edu	37	12	124862900	124862900	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:124862900T>C	uc010tba.1	-	18	2167	c.2050A>G	c.(2050-2052)AAG>GAG	p.K684E	NCOR2_uc010tay.1_Missense_Mutation_p.K684E|NCOR2_uc010taz.1_Missense_Mutation_p.K684E|NCOR2_uc010tbb.1_Missense_Mutation_p.K684E|NCOR2_uc010tbc.1_Missense_Mutation_p.K683E|NCOR2_uc001ugj.1_Missense_Mutation_p.K684E	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	684	Poly-Lys.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCGCTTTCTTCTTCTTCCTC	0.662												
NCOR2	9612	broad.mit.edu	37	12	124911228	124911228	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:124911228T>C	uc010tba.1	-	11	1385	c.1268A>G	c.(1267-1269)TAC>TGC	p.Y423C	NCOR2_uc010tay.1_Missense_Mutation_p.Y423C|NCOR2_uc010taz.1_Missense_Mutation_p.Y423C|NCOR2_uc010tbb.1_Missense_Mutation_p.Y423C|NCOR2_uc010tbc.1_Missense_Mutation_p.Y422C|NCOR2_uc001ugj.1_Missense_Mutation_p.Y423C|NCOR2_uc001ugk.1_Missense_Mutation_p.Y423C	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	423					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGTCTTTGTACACCTTCAT	0.607												
EP400	57634	broad.mit.edu	37	12	132514266	132514266	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:132514266C>T	uc001ujn.2	+	27	5437	c.5402C>T	c.(5401-5403)CCG>CTG	p.P1801L	EP400_uc001ujl.2_Missense_Mutation_p.P1800L|EP400_uc001ujm.2_Missense_Mutation_p.P1720L|SNORA49_uc001ujo.2_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1837					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTGATTCCTCCGGTGGTGGCA	0.632												
TPTE2	93492	broad.mit.edu	37	13	20056687	20056687	+	Missense_Mutation	SNP	A	A	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:20056687A>T	uc001umd.2	-	5	331	c.120T>A	c.(118-120)AGT>AGA	p.S40R	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Missense_Mutation_p.S40R|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	40						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTTCTAACATACTTTAGCCAC	0.313												
FLT1	2321	broad.mit.edu	37	13	28877424	28877424	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:28877424G>A	uc001usb.3	-	30	4182	c.3897C>T	c.(3895-3897)CAC>CAT	p.H1299H	FLT1_uc010aap.2_Silent_p.H304H|FLT1_uc010aaq.2_Silent_p.H424H|FLT1_uc001usa.3_Silent_p.H517H	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1299	Cytoplasmic (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTTCGCTGACGTGCCCACAGC	0.552												
KBTBD6	89890	broad.mit.edu	37	13	41705366	41705366	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:41705366T>C	uc001uxu.1	-	1	1571	c.1282A>G	c.(1282-1284)ATG>GTG	p.M428V	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.M362V|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	428	Kelch 1.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GCCACATCCATGCCCTCACGA	0.478												
RCBTB2	1102	broad.mit.edu	37	13	49089783	49089783	+	Missense_Mutation	SNP	C	C	T	rs146429069		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:49089783C>T	uc001vch.2	-	5	508	c.137G>A	c.(136-138)CGT>CAT	p.R46H	RCBTB2_uc010tgg.1_Missense_Mutation_p.R51H|RCBTB2_uc001vci.2_Missense_Mutation_p.R22H|RCBTB2_uc010tgh.1_5'UTR|RCBTB2_uc001vcj.2_Missense_Mutation_p.R50H|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Missense_Mutation_p.R22H	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	46							Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ACAAGCCTGACGAATTAACTG	0.368												
LMO7	4008	broad.mit.edu	37	13	76397791	76397791	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:76397791G>A	uc001vjv.2	+	12	2792	c.2032G>A	c.(2032-2034)GCA>ACA	p.A678T	LMO7_uc010thv.1_Missense_Mutation_p.A629T|LMO7_uc001vjt.1_Missense_Mutation_p.A577T|LMO7_uc010thw.1_Missense_Mutation_p.A528T|LMO7_uc001vjw.1_Missense_Mutation_p.A584T	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	963						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAGCCCGGACGCAAGCCAACT	0.473												
ERCC5	2073	broad.mit.edu	37	13	103459886	103459886	+	Missense_Mutation	SNP	G	G	A	rs145982160		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:103459886G>A	uc001vpu.1	+	1	391	c.269G>A	c.(268-270)CGC>CAC	p.R90H	BIVM_uc001vps.2_Missense_Mutation_p.R90H|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.R90H	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	127					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AATCCATCCCGCTCTCCTTGC	0.418			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
LIG4	3981	broad.mit.edu	37	13	108862197	108862197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:108862197C>A	uc001vqn.2	-	2	1693	c.1420G>T	c.(1420-1422)GGA>TGA	p.G474*	LIG4_uc001vqo.2_Nonsense_Mutation_p.G474*|LIG4_uc010agg.1_Nonsense_Mutation_p.G407*|LIG4_uc010agf.2_Nonsense_Mutation_p.G474*|LIG4_uc001vqp.2_Nonsense_Mutation_p.G474*	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	474					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCCCGTGATCCTTTACCCCAA	0.438								NHEJ				
SOX1	6656	broad.mit.edu	37	13	112722294	112722294	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:112722294C>T	uc001vsb.1	+	1	382	c.322C>T	c.(322-324)CGC>TGC	p.R108C		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	108	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		CAAGCGGCTGCGCGCGCTGCA	0.587												
GAS6	2621	broad.mit.edu	37	13	114535425	114535425	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:114535425G>A	uc001vud.2	-	10	1143	c.990C>T	c.(988-990)CCC>CCT	p.P330P	GAS6_uc001vug.2_Silent_p.P31P|GAS6_uc001vuf.2_Silent_p.P57P	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	373	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGATGCCCTCGGGGTCAAAGG	0.652												
RNASE10	338879	broad.mit.edu	37	14	20978638	20978638	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:20978638T>C	uc010tlj.1	+	1	8	c.8T>C	c.(7-9)CTG>CCG	p.L3P	RNASE10_uc001vxp.2_Missense_Mutation_p.L31P	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	3						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		AAAATGAAGCTGAATCTGGTG	0.343												
FLJ10357	55701	broad.mit.edu	37	14	21542131	21542131	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:21542131C>T	uc001vzp.2	+	3	271	c.242C>T	c.(241-243)CCG>CTG	p.P81L	FLJ10357_uc001vzn.1_Missense_Mutation_p.P81L|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	81					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		GAGGGGTGGCCGCTCTGCCTG	0.617												
CHD8	57680	broad.mit.edu	37	14	21897334	21897334	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:21897334G>A	uc001was.1	-	3	261	c.167C>T	c.(166-168)GCC>GTC	p.A56V	CHD8_uc001war.1_5'UTR	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	335	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TACTACCTTGGCAGGCTGCCC	0.562												
TGM1	7051	broad.mit.edu	37	14	24730998	24730998	+	Silent	SNP	G	G	A	rs145002586	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:24730998G>A	uc001wod.2	-	3	535	c.411C>T	c.(409-411)GAC>GAT	p.D137D	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	137					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTATCAGCTCGTCGTACTCAT	0.577												
DHRS1	115817	broad.mit.edu	37	14	24760357	24760357	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:24760357G>A	uc001woj.1	-	8	1062	c.793C>T	c.(793-795)CGG>TGG	p.R265W	DHRS1_uc010aln.1_RNA|DHRS1_uc001wok.2_Missense_Mutation_p.R265W	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	265						endoplasmic reticulum	binding|oxidoreductase activity				0				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		TCCACATCCCGAAGGCCATAG	0.607												
BAZ1A	11177	broad.mit.edu	37	14	35272177	35272177	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:35272177C>T	uc001wsk.2	-	7	1312	c.744G>A	c.(742-744)ACG>ACA	p.T248T	BAZ1A_uc001wsl.2_Silent_p.T248T|BAZ1A_uc001wsm.1_Silent_p.T248T	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	248					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CTATTTTATACGTTGAAAGAG	0.373												
RPL10L	140801	broad.mit.edu	37	14	47120831	47120831	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:47120831C>T	uc001wwg.2	-	1	198	c.109G>A	c.(109-111)GGT>AGT	p.G37S		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	37					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						TTCTTTCTACCCAGGTCAAAG	0.532												
TRMT5	57570	broad.mit.edu	37	14	61446529	61446529	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:61446529C>T	uc001xff.3	-	2	178	c.87G>A	c.(85-87)TCG>TCA	p.S29S	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	29						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CTGGAATCAACGATTTTGATT	0.363												
SYT16	83851	broad.mit.edu	37	14	62551036	62551036	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:62551036G>A	uc001xfu.1	+	5	1754	c.1557G>A	c.(1555-1557)ACG>ACA	p.T519T	SYT16_uc010tse.1_Silent_p.T77T	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	519	C2 2.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATGCCACAACGGGGCGATTAT	0.537												
SYNE2	23224	broad.mit.edu	37	14	64688370	64688370	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:64688370C>T	uc001xgm.2	+	111	20299	c.20069C>T	c.(20068-20070)ACC>ATC	p.T6690I	SYNE2_uc001xgl.2_Missense_Mutation_p.T6713I|SYNE2_uc010apy.2_Missense_Mutation_p.T3075I|SYNE2_uc001xgn.2_Missense_Mutation_p.T1652I|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.T660I|SYNE2_uc001xgq.2_Missense_Mutation_p.T1069I|SYNE2_uc001xgr.2_Missense_Mutation_p.T473I|SYNE2_uc010tsi.1_Missense_Mutation_p.T347I|SYNE2_uc001xgs.2_Missense_Mutation_p.T361I|SYNE2_uc001xgt.2_Missense_Mutation_p.T235I	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6690	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTCATGTCACCGATCCAAAG	0.542												
ESR2	2100	broad.mit.edu	37	14	64727249	64727249	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:64727249G>A	uc001xha.1	-	5	1338	c.870C>T	c.(868-870)ACC>ACT	p.T290T	ESR2_uc001xgu.2_Silent_p.T290T|ESR2_uc001xgv.2_Silent_p.T290T|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Silent_p.T290T|ESR2_uc001xgy.1_Silent_p.T290T|ESR2_uc001xgz.1_Silent_p.T290T|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Silent_p.T290T|ESR2_uc010aqd.1_RNA	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	290	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGGAGGCCTCGGTGAAGGGCG	0.617												
RDH11	51109	broad.mit.edu	37	14	68157059	68157059	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:68157059G>A	uc001xjv.3	-	5	624	c.534C>T	c.(532-534)CTC>CTT	p.L178L	RDH11_uc001xjw.3_Silent_p.L165L|RDH11_uc001xjx.3_Intron	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	178	Cytoplasmic (Potential).				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GGTGATGTGCGAGGGAAGACA	0.478												
DCAF5	8816	broad.mit.edu	37	14	69522046	69522046	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:69522046G>A	uc001xkp.2	-	9	1576	c.1357C>T	c.(1357-1359)CGC>TGC	p.R453C	DCAF5_uc001xkq.2_Missense_Mutation_p.R452C	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	453						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						TAGCCTGAGCGCTCGCTGACC	0.607												
EXD2	55218	broad.mit.edu	37	14	69704633	69704633	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:69704633C>T	uc001xkt.2	+	10	1918	c.1259C>T	c.(1258-1260)GCC>GTC	p.A420V	EXD2_uc001xku.2_Missense_Mutation_p.A290V|EXD2_uc001xkv.2_Missense_Mutation_p.A545V|EXD2_uc001xkw.2_Missense_Mutation_p.A420V|EXD2_uc010aqt.2_Missense_Mutation_p.A545V|EXD2_uc010tte.1_Missense_Mutation_p.A545V|EXD2_uc001xky.2_Missense_Mutation_p.A420V	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	420					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						CAAGAGGCTGCCAGCCTGGAG	0.527												
GALNTL1	57452	broad.mit.edu	37	14	69795188	69795188	+	Missense_Mutation	SNP	G	G	A	rs61748871	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:69795188G>A	uc010aqu.1	+	6	683	c.590G>A	c.(589-591)CGT>CAT	p.R197H	GALNTL1_uc001xla.1_Missense_Mutation_p.R197H|GALNTL1_uc001xlb.1_Missense_Mutation_p.R197H	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	197	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		TCCCGAGTGCGTGGGGCGGAC	0.632												
PAPLN	89932	broad.mit.edu	37	14	73717688	73717688	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:73717688C>T	uc010ttx.1	+	6	702	c.539C>T	c.(538-540)ACG>ATG	p.T180M	PAPLN_uc001xnw.3_Missense_Mutation_p.T180M|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.T180M	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	180						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGTGACGGCACGACCTGCTAC	0.642												
C14orf43	91748	broad.mit.edu	37	14	74189532	74189532	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:74189532C>T	uc001xot.2	-	10	3376	c.2593G>A	c.(2593-2595)GCC>ACC	p.A865T	C14orf43_uc001xos.2_Missense_Mutation_p.A130T|C14orf43_uc001xou.2_Missense_Mutation_p.A865T|C14orf43_uc010tud.1_Missense_Mutation_p.A865T|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	865	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		ACGCACTGGGCCACGGTCTTG	0.527												
ABCD4	5826	broad.mit.edu	37	14	74756786	74756786	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:74756786C>T	uc001xpr.2	-	13	1515	c.1363G>A	c.(1363-1365)GGG>AGG	p.G455R	ABCD4_uc001xps.2_Missense_Mutation_p.G296R|ABCD4_uc001xpt.2_Missense_Mutation_p.G296R|ABCD4_uc010tur.1_Missense_Mutation_p.G351R	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	455	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AATAGCACCCCATGGGGCCCA	0.587											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NGB	58157	broad.mit.edu	37	14	77737252	77737252	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:77737252C>T	uc001xtg.1	-	1	404	c.29G>A	c.(28-30)CGG>CAG	p.R10Q		NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	neuroglobin	10	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCAGCTCTGCCGGATCAGCTC	0.751												
TSHR	7253	broad.mit.edu	37	14	81610125	81610125	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:81610125G>A	uc001xvd.1	+	10	1879	c.1723G>A	c.(1723-1725)GAG>AAG	p.E575K		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	575	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATGGACACCGAGACCCCTCT	0.498			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 					
SLC24A4	123041	broad.mit.edu	37	14	92909751	92909751	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:92909751G>A	uc001yak.2	+	7	563	c.539G>A	c.(538-540)CGT>CAT	p.R180H	SLC24A4_uc001yai.2_Missense_Mutation_p.R133H|SLC24A4_uc010twm.1_Missense_Mutation_p.R197H|SLC24A4_uc001yaj.2_Missense_Mutation_p.R180H|SLC24A4_uc010auj.2_Missense_Mutation_p.R88H|SLC24A4_uc010twn.1_5'UTR	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	197	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CAGGTGGTCCGTCTGACGTGG	0.657												
BTBD7	55727	broad.mit.edu	37	14	93717896	93717896	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:93717896C>T	uc001ybo.2	-	8	2181	c.1855G>A	c.(1855-1857)GTG>ATG	p.V619M	BTBD7_uc010aur.2_Missense_Mutation_p.V144M|BTBD7_uc010two.1_Missense_Mutation_p.V439M|BTBD7_uc001ybp.2_Missense_Mutation_p.V268M	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	619										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CACTGTGGCACGGCATTATTG	0.493												
DICER1	23405	broad.mit.edu	37	14	95562462	95562462	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:95562462G>A	uc001ydw.2	-	24	4977	c.4795C>T	c.(4795-4797)CGG>TGG	p.R1599W	DICER1_uc010avh.1_Missense_Mutation_p.R497W|DICER1_uc001ydv.2_Missense_Mutation_p.R1589W|DICER1_uc001ydx.2_Missense_Mutation_p.R1599W|DICER1_uc001ydy.1_Missense_Mutation_p.R451W	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1599					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCCTTTTCCCGATCAGTCCTT	0.537			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
BCL11B	64919	broad.mit.edu	37	14	99641154	99641154	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:99641154G>A	uc001yga.2	-	4	2286	c.2019C>T	c.(2017-2019)CCC>CCT	p.P673P	BCL11B_uc001ygb.2_Silent_p.P602P	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	673						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCAGCGGCGCGGGCTTGCGCG	0.547			T	TLX3	T-ALL							
CDC42BPB	9578	broad.mit.edu	37	14	103430911	103430911	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:103430911G>A	uc001ymi.1	-	19	2886	c.2654C>T	c.(2653-2655)GCG>GTG	p.A885V	CDC42BPB_uc001ymj.1_Missense_Mutation_p.A13V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	885	Potential.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCGGATCTCCGCCTCCAGGGC	0.632												
CRIP2	1397	broad.mit.edu	37	14	105945820	105945820	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:105945820C>T	uc001yrd.1	+	7	618	c.549C>T	c.(547-549)TTC>TTT	p.F183F	CRIP2_uc010tyr.1_Silent_p.F257F|CRIP2_uc001yre.1_Silent_p.F255F|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA	NM_001312	NP_001303	P52943	CRIP2_HUMAN	cysteine-rich protein 2	183	Gly-rich.						zinc ion binding				0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GAATCCTCTTCGGACCCAAGG	0.657												
ATP10A	57194	broad.mit.edu	37	15	25958953	25958953	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:25958953G>A	uc010ayu.2	-	10	2318	c.2212C>T	c.(2212-2214)CAC>TAC	p.H738Y		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	738	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCCAGTGTGTGCAGGAGCTCG	0.607												
RYR3	6263	broad.mit.edu	37	15	33835850	33835850	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:33835850G>A	uc001zhi.2	+	8	744	c.674G>A	c.(673-675)CGT>CAT	p.R225H	RYR3_uc010bar.2_Missense_Mutation_p.R225H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	225	MIR 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATGTAGTACGTCTTTTCCAT	0.393												
CHRM5	1133	broad.mit.edu	37	15	34355212	34355212	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:34355212C>T	uc001zhk.1	+	3	964	c.294C>T	c.(292-294)CTC>CTT	p.L98L	CHRM5_uc001zhl.1_Silent_p.L98L	NM_012125	NP_036257	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	98	Extracellular (By similarity).				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GCTGGGCTCTCGGGAGTCTGG	0.502												
AQR	9716	broad.mit.edu	37	15	35166929	35166929	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:35166929C>T	uc001ziv.2	-	29	3555	c.3374G>A	c.(3373-3375)CGC>CAC	p.R1125H		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1125						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AACTCCAACGCGAACAAAGCG	0.428												
CASC5	57082	broad.mit.edu	37	15	40915354	40915354	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:40915354C>T	uc010bbs.1	+	11	3131	c.2970C>T	c.(2968-2970)TAC>TAT	p.Y990Y	CASC5_uc010ucq.1_Silent_p.Y814Y|CASC5_uc001zme.2_Silent_p.Y964Y|CASC5_uc010bbt.1_Silent_p.Y964Y	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	990	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TCATTGACTACCAAGAAAAGG	0.383												
VPS39	23339	broad.mit.edu	37	15	42476844	42476844	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:42476844G>A	uc001zpd.2	-	9	773	c.622C>T	c.(622-624)CCC>TCC	p.P208S	VPS39_uc001zpc.2_Missense_Mutation_p.P197S	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	208	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	p.A208T(1)		ovary(1)|pancreas(1)|skin(1)	3		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GCAACTAAGGGCTCCAGCTGT	0.517												
TGM7	116179	broad.mit.edu	37	15	43568714	43568714	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:43568714T>C	uc001zrf.1	-	13	2077	c.2072A>G	c.(2071-2073)AAC>AGC	p.N691S		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	691					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTTGACCTCGTTGCTGCTGAT	0.622												
MYO5C	55930	broad.mit.edu	37	15	52553183	52553183	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:52553183C>T	uc010bff.2	-	10	1326	c.1189G>A	c.(1189-1191)GCC>ACC	p.A397T	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_3'UTR	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	397	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		GCATCCCTGGCGTTGACAGCC	0.512												
NARG2	79664	broad.mit.edu	37	15	60741590	60741590	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:60741590T>C	uc002agp.2	-	10	1811	c.1576A>G	c.(1576-1578)AAT>GAT	p.N526D	NARG2_uc002ago.2_Missense_Mutation_p.N389D|NARG2_uc002agq.3_Missense_Mutation_p.N194D	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	526						nucleus				ovary(1)|lung(1)	2						TCATTTTTATTAGAAGTTTCA	0.323												
VPS13C	54832	broad.mit.edu	37	15	62165447	62165447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:62165447G>A	uc002agz.2	-	78	10650	c.10576C>T	c.(10576-10578)CGA>TGA	p.R3526*	VPS13C_uc002aha.2_Nonsense_Mutation_p.R3483*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.R3526*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.R3483*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3526					protein localization					ovary(2)	2						GAACTTACTCGCAGAAAGCCC	0.413												
HERC1	8925	broad.mit.edu	37	15	63944642	63944642	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:63944642T>C	uc002amp.2	-	52	10537	c.10389A>G	c.(10387-10389)TCA>TCG	p.S3463S		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3463	WD 4.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TCTGTTGCAGTGAATATTGCT	0.393												
ZNF609	23060	broad.mit.edu	37	15	64967943	64967943	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:64967943C>T	uc002ann.2	+	4	2890	c.2890C>T	c.(2890-2892)CGT>TGT	p.R964C		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	964						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CATCCAGCAGCGTCCCAATAT	0.522												
IGDCC4	57722	broad.mit.edu	37	15	65684597	65684597	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:65684597C>T	uc002aou.1	-	11	2207	c.1997G>A	c.(1996-1998)CGG>CAG	p.R666Q	IGDCC4_uc002aot.1_Missense_Mutation_p.R254Q	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	666	Extracellular (Potential).|Fibronectin type-III 3.					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						CCCCACCTCCCGCCAATATAG	0.622												
TMEM202	338949	broad.mit.edu	37	15	72691047	72691047	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:72691047G>A	uc002auq.2	+	2	135	c.135G>A	c.(133-135)CAG>CAA	p.Q45Q	TMEM202_uc002aur.2_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	transmembrane protein 202	45						integral to membrane				central_nervous_system(1)|skin(1)	2						GCCAAAGGCAGCAGCAGCTTA	0.512												
STRA6	64220	broad.mit.edu	37	15	74481567	74481567	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:74481567C>T	uc002axk.2	-	12	1161	c.979G>A	c.(979-981)GCA>ACA	p.A327T	STRA6_uc002axi.2_Missense_Mutation_p.A136T|STRA6_uc010ulh.1_Missense_Mutation_p.A365T|STRA6_uc002axj.2_Missense_Mutation_p.A366T|STRA6_uc010bji.2_Missense_Mutation_p.A327T|STRA6_uc002axl.2_Missense_Mutation_p.A259T|STRA6_uc002axm.2_Missense_Mutation_p.A327T|STRA6_uc002axn.2_Missense_Mutation_p.A318T|STRA6_uc010uli.1_Missense_Mutation_p.A364T|STRA6_uc010bjj.1_RNA	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	327	Helical; (Potential).				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1						GTGACCCCTGCCCTCACCTTC	0.617												
CYP11A1	1583	broad.mit.edu	37	15	74636145	74636145	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:74636145C>T	uc002axt.2	-	4	969	c.814G>A	c.(814-816)GTG>ATG	p.V272M	CYP11A1_uc002axs.2_Missense_Mutation_p.V114M|CYP11A1_uc010bjm.1_Missense_Mutation_p.V114M|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjo.1_Missense_Mutation_p.V272M|CYP11A1_uc010bjp.1_RNA|CYP11A1_uc010ulj.1_Missense_Mutation_p.V52M	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	272					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTGAAAATCACGTCCCATGCA	0.592												
CYP1A1	1543	broad.mit.edu	37	15	75014057	75014057	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:75014057C>T	uc002ayp.3	-	3	949	c.827G>A	c.(826-828)GGC>GAC	p.G276D	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.G12D|CYP1A1_uc010bjx.2_Missense_Mutation_p.G12D|CYP1A1_uc002ayq.3_Missense_Mutation_p.G276D|CYP1A1_uc010bjy.2_Missense_Mutation_p.G276D|CYP1A1_uc010bjz.1_Missense_Mutation_p.G12D	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	276					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			ovary(2)|breast(2)|pancreas(1)	5					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CCGGATGTGGCCCTTAGGTAG	0.507									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia			
CSK	1445	broad.mit.edu	37	15	75094810	75094810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:75094810C>T	uc010bkb.1	+	14	1492	c.1309C>T	c.(1309-1311)CGA>TGA	p.R437*	CSK_uc002ays.2_Nonsense_Mutation_p.R437*|CSK_uc010bkc.1_Nonsense_Mutation_p.R246*	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	437	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						CCTACAGCTCCGAGAGCAGCT	0.627												
ADAMTS7	11173	broad.mit.edu	37	15	79083560	79083560	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:79083560A>G	uc002bej.3	-	5	1036	c.825T>C	c.(823-825)GCT>GCC	p.A275A	ADAMTS7_uc010und.1_Silent_p.A275A|ADAMTS7_uc002bek.1_Silent_p.A275A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	275	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						GAAACAGGCCAGCCACCTGCC	0.602												
KIAA1024	23251	broad.mit.edu	37	15	79749949	79749949	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:79749949G>A	uc002bew.1	+	2	1535	c.1460G>A	c.(1459-1461)TGC>TAC	p.C487Y	KIAA1024_uc010unk.1_Missense_Mutation_p.C487Y	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	487						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						CCCAAGAAATGCAGAGACCTG	0.532												
ARNT2	9915	broad.mit.edu	37	15	80800575	80800575	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:80800575G>A	uc002bfr.2	+	6	867	c.701G>A	c.(700-702)CGG>CAG	p.R234Q	ARNT2_uc010unm.1_Missense_Mutation_p.R223Q|ARNT2_uc002bfs.2_Missense_Mutation_p.R223Q	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	234					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATGGGCTCGCGGCGGTCTTTC	0.542												
AP3B2	8120	broad.mit.edu	37	15	83332368	83332368	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:83332368G>A	uc010uoh.1	-	20	2561	c.2384C>T	c.(2383-2385)CCC>CTC	p.P795L	AP3B2_uc010uoi.1_Missense_Mutation_p.P814L|AP3B2_uc010uoj.1_Missense_Mutation_p.P763L|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.P431L|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	795	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTTGCTGCTGGGAGGCTGAAA	0.522												
WHAMM	123720	broad.mit.edu	37	15	83478511	83478511	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:83478511C>T	uc002bje.2	+	1	539	c.33C>T	c.(31-33)GGC>GGT	p.G11G		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	11						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						GCCTGGAGGGCTGGGTGCCGG	0.731												
ZSCAN2	54993	broad.mit.edu	37	15	85147391	85147391	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:85147391G>A	uc002bkr.2	+	2	459	c.233G>A	c.(232-234)GGC>GAC	p.G78D	ZSCAN2_uc002bkp.2_Missense_Mutation_p.G78D|ZSCAN2_uc002bkq.2_Missense_Mutation_p.G78D|ZSCAN2_uc010bmz.1_Missense_Mutation_p.G77D|ZSCAN2_uc010bna.2_Intron|ZSCAN2_uc010uox.1_Missense_Mutation_p.G77D|ZSCAN2_uc010uoy.1_Missense_Mutation_p.G77D|ZSCAN2_uc010uoz.1_Missense_Mutation_p.G77D	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	78	SCAN box.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GGTGCACTCGGCCGCCTCCGA	0.632												
HAPLN3	145864	broad.mit.edu	37	15	89422314	89422314	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:89422314A>G	uc002bnc.2	-	4	808	c.680T>C	c.(679-681)ATG>ACG	p.M227T	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.M289T	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	227	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCGGGGCAACATGATGGGGTA	0.692											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RHCG	51458	broad.mit.edu	37	15	90023598	90023598	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:90023598G>A	uc002bnz.2	-	4	588	c.564C>T	c.(562-564)GGC>GGT	p.G188G	RHCG_uc002bny.2_5'Flank|RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_Silent_p.G72G	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	188	Helical; (Potential).				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CAAAGTAGGCGCCAAATGTGT	0.577												
IQGAP1	8826	broad.mit.edu	37	15	91027453	91027453	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:91027453C>T	uc002bpl.1	+	30	3891	c.3790C>T	c.(3790-3792)CGG>TGG	p.R1264W		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1264	C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTATTTCAGACGGTTTTTCCA	0.428												
MAN2A2	4122	broad.mit.edu	37	15	91462927	91462927	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:91462927G>A	uc010bnz.2	+	23	3478	c.3363G>A	c.(3361-3363)ACG>ACA	p.T1121T	MAN2A2_uc002bqc.2_Silent_p.T1121T|MAN2A2_uc010uql.1_Silent_p.T783T|MAN2A2_uc010uqm.1_Silent_p.T700T|MAN2A2_uc010uqn.1_RNA	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1121					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTCCTTGACGTTACTGTACC	0.567												
CHD2	1106	broad.mit.edu	37	15	93489371	93489371	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:93489371A>G	uc002bsp.2	+	12	1877	c.1302A>G	c.(1300-1302)GGA>GGG	p.G434G	CHD2_uc002bsn.2_Silent_p.G434G|CHD2_uc002bso.1_Silent_p.G434G|CHD2_uc010urb.1_Silent_p.G447G|CHD2_uc010bof.1_RNA	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	434	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCCTCATTGGAAAGAAATTCC	0.448												
NR2F2	7026	broad.mit.edu	37	15	96877812	96877812	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:96877812C>T	uc010uri.1	+	2	2174	c.950C>T	c.(949-951)GCC>GTC	p.A317V	NR2F2_uc002btp.2_Missense_Mutation_p.A184V|NR2F2_uc010urj.1_Missense_Mutation_p.A164V|NR2F2_uc010urk.1_Missense_Mutation_p.A164V	NM_021005	NP_066285	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	317	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(1)	3	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TGCCTCAAGGCCATAGTCCTG	0.602												
TMEM8A	58986	broad.mit.edu	37	16	424092	424092	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:424092C>T	uc002cgu.3	-	11	1944	c.1815G>A	c.(1813-1815)ACG>ACA	p.T605T	TMEM8A_uc002cgv.3_Silent_p.T412T	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	605	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						AGTACTGCAGCGTGTCGTAGC	0.652											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
C16orf11	146325	broad.mit.edu	37	16	615240	615240	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:615240C>T	uc002chk.2	+	3	1928	c.1649C>T	c.(1648-1650)GCG>GTG	p.A550V	NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	550										central_nervous_system(1)	1						ACCTGTGTTGCGACGAGGAGT	0.672												
RAB40C	57799	broad.mit.edu	37	16	668205	668205	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:668205C>T	uc002chr.2	+	3	325	c.209C>T	c.(208-210)ACG>ATG	p.T70M	RAB40C_uc002chq.2_Missense_Mutation_p.T70M	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	70	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				TTCAGGGACACGTCGGGCCAG	0.612												
NARFL	64428	broad.mit.edu	37	16	784277	784277	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:784277C>T	uc002cjr.2	-	6	657	c.645G>A	c.(643-645)CCG>CCA	p.P215P	NARFL_uc002cjp.2_Silent_p.P113P|NARFL_uc002cjq.2_Silent_p.P113P|NARFL_uc002cjs.2_5'UTR|NARFL_uc010brc.1_3'UTR|NARFL_uc010uur.1_Missense_Mutation_p.R171H|NARFL_uc010uuq.1_5'Flank	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	215					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				TGACCTGCTGCGGGGACCGGG	0.662												
PRR25	388199	broad.mit.edu	37	16	857626	857626	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:857626G>A	uc010uut.1	+	2	623	c.623G>A	c.(622-624)CGC>CAC	p.R208H		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	proline rich 25	208										large_intestine(1)	1						AAAGGGACCCGCCAGCGGATC	0.711												
CACNA1H	8912	broad.mit.edu	37	16	1262003	1262003	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:1262003G>A	uc002cks.2	+	25	4872	c.4624G>A	c.(4624-4626)GTC>ATC	p.V1542I	CACNA1H_uc002ckt.2_Missense_Mutation_p.V1542I|CACNA1H_uc002cku.2_Missense_Mutation_p.V248I|CACNA1H_uc010brj.2_Missense_Mutation_p.V248I|CACNA1H_uc002ckv.2_Missense_Mutation_p.V248I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1542	Helical; Name=S6 of repeat III; (Potential).|III.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTGCTCATCGTCAGCTTCTT	0.647												
PTX4	390667	broad.mit.edu	37	16	1537330	1537330	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:1537330C>A	uc010uvf.1	-	2	768	c.768G>T	c.(766-768)CAG>CAT	p.Q256H		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	261						extracellular region	metal ion binding				0						CTCCTGGCACCTGGGGGGACC	0.607												
MAPK8IP3	23162	broad.mit.edu	37	16	1810417	1810417	+	Silent	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:1810417C>A	uc002cmk.2	+	12	1458	c.1338C>A	c.(1336-1338)GCC>GCA	p.A446A	MAPK8IP3_uc002cml.2_Silent_p.A440A|MAPK8IP3_uc010uvl.1_Silent_p.A447A	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	446	Potential.				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						ACCTGATTGCCAAGGTCGACC	0.562												
ZNF598	90850	broad.mit.edu	37	16	2049537	2049537	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:2049537C>T	uc002cof.1	-	11	2028	c.2013G>A	c.(2011-2013)GCG>GCA	p.A671A	ZNF598_uc002coe.1_Silent_p.A35A	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	671	Pro-rich.					intracellular	zinc ion binding			lung(1)|breast(1)	2						GGCCGCCGAGCGCTGGGAAGT	0.761												
CREBBP	1387	broad.mit.edu	37	16	3843416	3843416	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:3843416G>A	uc002cvv.2	-	4	1391	c.1187C>T	c.(1186-1188)ACG>ATG	p.T396M	CREBBP_uc002cvw.2_Missense_Mutation_p.T396M	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	396	TAZ-type 1.|Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGACAATGCGTCATGTGATT	0.488			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
HMOX2	3163	broad.mit.edu	37	16	4559660	4559660	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:4559660G>A	uc010bts.2	+	6	1025	c.854G>A	c.(853-855)CGA>CAA	p.R285Q	HMOX2_uc002cwr.3_Missense_Mutation_p.R285Q|HMOX2_uc002cwq.3_Missense_Mutation_p.R285Q|HMOX2_uc002cws.3_Missense_Mutation_p.R339Q|HMOX2_uc010btt.2_Missense_Mutation_p.R285Q|HMOX2_uc002cwt.2_Missense_Mutation_p.R285Q	NM_001127206	NP_001120678	P30519	HMOX2_HUMAN	heme oxygenase (decyclizing) 2	285	HRM 2.			SCPFRTAM -> LSLPTSY (in Ref. 2; AAB22110).	cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding				0					NADH(DB00157)	TGTCCCTTCCGAACAGCTATG	0.612												
GRIN2A	2903	broad.mit.edu	37	16	9858738	9858738	+	Missense_Mutation	SNP	G	G	A	rs149698593		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:9858738G>A	uc002czo.3	-	13	3211	c.2663C>T	c.(2662-2664)ACG>ATG	p.T888M	GRIN2A_uc010uym.1_Missense_Mutation_p.T888M|GRIN2A_uc010uyn.1_Missense_Mutation_p.T731M|GRIN2A_uc002czr.3_Missense_Mutation_p.T888M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	888	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGGGATCCCGTCAGATTGAA	0.468												
RUNDC2A	84127	broad.mit.edu	37	16	12145844	12145844	+	Missense_Mutation	SNP	G	G	A	rs149490127		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:12145844G>A	uc002dbw.1	+	8	951	c.889G>A	c.(889-891)GAC>AAC	p.D297N	SNX29_uc002dby.3_5'Flank	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	297										ovary(1)	1						GGACAACTCCGACCGCTCCTC	0.498			T	CIITA	PMBL|Hodgkin Lymphona|							
SNX29	92017	broad.mit.edu	37	16	12662399	12662399	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:12662399G>A	uc002dby.3	+	14	1256	c.1200G>A	c.(1198-1200)CGG>CGA	p.R400R		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	400					cell communication		phosphatidylinositol binding			ovary(1)	1						TGAACAGCCGGCCCAAAGCAG	0.622												
DNAH3	55567	broad.mit.edu	37	16	20994156	20994156	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:20994156C>T	uc010vbe.1	-	49	7746	c.7746G>A	c.(7744-7746)TCG>TCA	p.S2582S	DNAH3_uc010vbd.1_Silent_p.S17S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2582	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AATTGATCAGCGAAGGGAACA	0.483												
OTOA	146183	broad.mit.edu	37	16	21698928	21698928	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:21698928G>A	uc002djh.2	+	7	595	c.594G>A	c.(592-594)GAG>GAA	p.E198E	uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.E119E	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	198					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		ACATCACAGAGCGGCTCCCTC	0.473												
USP31	57478	broad.mit.edu	37	16	23080178	23080178	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:23080178C>T	uc002dll.2	-	16	3248	c.3248G>A	c.(3247-3249)GGC>GAC	p.G1083D	USP31_uc002dlk.2_Missense_Mutation_p.G355D|USP31_uc010vca.1_Missense_Mutation_p.G386D|USP31_uc010bxm.2_Missense_Mutation_p.G371D	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1083	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		CCGTCCACTGCCCCTGGAAGA	0.542												
TNRC6A	27327	broad.mit.edu	37	16	24806025	24806025	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:24806025G>T	uc002dmm.2	+	8	3627	c.3513G>T	c.(3511-3513)AAG>AAT	p.K1171N	TNRC6A_uc010bxs.2_Missense_Mutation_p.K918N|TNRC6A_uc010vcc.1_Missense_Mutation_p.K918N|TNRC6A_uc002dmn.2_Missense_Mutation_p.K918N|TNRC6A_uc002dmo.2_Missense_Mutation_p.K859N	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1171	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CATATACAAAGAAAATGTCAT	0.393												
AQP8	343	broad.mit.edu	37	16	25228757	25228757	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:25228757G>A	uc002doc.2	+	2	333	c.251G>A	c.(250-252)GGG>GAG	p.G84E		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	84	Extracellular (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		GCCACGCTGGGGAATATCAGG	0.617												
GTF3C1	2975	broad.mit.edu	37	16	27473769	27473769	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:27473769C>T	uc002dov.1	-	36	6003	c.5963G>A	c.(5962-5964)CGT>CAT	p.R1988H	GTF3C1_uc002dou.2_Missense_Mutation_p.R1963H	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1988						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						ATCCACGACACGCCACGGCCG	0.622												
MAZ	4150	broad.mit.edu	37	16	29819074	29819074	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:29819074G>A	uc002dty.2	+	2	1136	c.968G>A	c.(967-969)AGC>AAC	p.S323N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.S300N|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.S323N|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_Missense_Mutation_p.S41N|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	323	C2H2-type 3.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1						GACCGCATGAGCTACCACGTG	0.647												
MVP	9961	broad.mit.edu	37	16	29853161	29853161	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:29853161G>T	uc002dui.2	+	9	1520	c.1436G>T	c.(1435-1437)CGC>CTC	p.R479L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.R479L|MVP_uc010vea.1_Missense_Mutation_p.R73L	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	479	MVP 9.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						AAGCGAGCCCGGTGAGTGCTG	0.667												
TAOK2	9344	broad.mit.edu	37	16	30002182	30002182	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:30002182C>T	uc002dvc.1	+	18	3306	c.2523C>T	c.(2521-2523)AAC>AAT	p.N841N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						AGCTGCTCAACGCTTACCAGA	0.622												
C16orf58	64755	broad.mit.edu	37	16	31504963	31504963	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:31504963C>T	uc002eci.1	-	8	931	c.919G>A	c.(919-921)GAC>AAC	p.D307N	C16orf58_uc002ech.1_5'UTR|C16orf58_uc010vfq.1_Missense_Mutation_p.D165N	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	hypothetical protein LOC64755	307						integral to membrane				ovary(1)|breast(1)	2						GCAGTTGGGTCGAGTACCTCT	0.637												
ADCY7	113	broad.mit.edu	37	16	50338359	50338359	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:50338359G>A	uc002egd.1	+	10	1725	c.1457G>A	c.(1456-1458)CGG>CAG	p.R486Q	ADCY7_uc002egb.1_Missense_Mutation_p.R486Q|ADCY7_uc002egc.1_Missense_Mutation_p.R486Q	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	486	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CGCATGACCCGGTACCTCGAG	0.701												
IRX6	79190	broad.mit.edu	37	16	55362691	55362691	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:55362691G>T	uc002ehy.2	+	5	1334	c.801G>T	c.(799-801)GAG>GAT	p.E267D	IRX6_uc002ehx.2_Missense_Mutation_p.E267D	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	267						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						aggaggaggaggaagctgaag	0.502												
NUP93	9688	broad.mit.edu	37	16	56782290	56782290	+	Missense_Mutation	SNP	G	G	A	rs146068835		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:56782290G>A	uc002eka.2	+	2	252	c.131G>A	c.(130-132)CGT>CAT	p.R44H		NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	44					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						GAGCGCCTGCGTTCCCGTACC	0.587												
CDH16	1014	broad.mit.edu	37	16	66946576	66946576	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:66946576C>T	uc002eql.2	-	10	1346	c.1273G>A	c.(1273-1275)GCA>ACA	p.A425T	CDH16_uc010cdy.2_Missense_Mutation_p.A425T|CDH16_uc002eqm.2_Missense_Mutation_p.A328T	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	425	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCACCCTCTGCGCCTGCCAGG	0.642												
FHOD1	29109	broad.mit.edu	37	16	67271561	67271561	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:67271561G>A	uc002esl.2	-	7	865	c.753C>T	c.(751-753)ACC>ACT	p.T251T	FHOD1_uc010ced.2_Silent_p.T58T|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	251	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTCTCTGACCGGTGGTGCTGG	0.572												
FAM65A	79567	broad.mit.edu	37	16	67575405	67575405	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:67575405G>A	uc010vjp.1	+	11	1030	c.934G>A	c.(934-936)GCC>ACC	p.A312T	FAM65A_uc010cei.1_Missense_Mutation_p.A134T|FAM65A_uc002eth.2_Missense_Mutation_p.A292T|FAM65A_uc010cej.2_Missense_Mutation_p.A295T|FAM65A_uc002eti.1_Missense_Mutation_p.A255T|FAM65A_uc010vjq.1_Missense_Mutation_p.A306T|FAM65A_uc002etj.1_Missense_Mutation_p.A291T|FAM65A_uc002etk.2_Missense_Mutation_p.A291T	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	296						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGACCTGTTTGCCGCCCTGCC	0.567												
RLTPR	146206	broad.mit.edu	37	16	67683831	67683831	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:67683831A>G	uc002etn.2	+	21	2162	c.2042A>G	c.(2041-2043)CAG>CGG	p.Q681R	RLTPR_uc010cel.1_Missense_Mutation_p.Q674R|RLTPR_uc010vjr.1_Missense_Mutation_p.Q645R	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	681	LRR 16.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCCCAGGCGCAGCGCAGCCGC	0.647												
CDH1	999	broad.mit.edu	37	16	68844111	68844111	+	Silent	SNP	C	C	T	rs115494727	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:68844111C>T	uc002ewg.1	+	6	823	c.699C>T	c.(697-699)CAC>CAT	p.H233H	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.H233H	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	233	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.H233Q(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCTTCTCTCACGCTGTGTCAT	0.527			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
COG8	84342	broad.mit.edu	37	16	69368569	69368569	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:69368569A>G	uc002ewy.2	-	3	1339	c.1268T>C	c.(1267-1269)CTG>CCG	p.L423P	COG8_uc002ewz.3_Missense_Mutation_p.L423P	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	423					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						GGGTGGCTGCAGCGTCCCCGG	0.582												
TERF2	7014	broad.mit.edu	37	16	69400708	69400708	+	Splice_Site	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:69400708A>G	uc002exd.2	-	7	1339	c.1214_splice	c.e7+1	p.K405_splice		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2						age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				AGGTCTTCATACTTGGGATTC	0.537												
NFAT5	10725	broad.mit.edu	37	16	69726958	69726958	+	Missense_Mutation	SNP	A	A	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:69726958A>T	uc002exm.1	+	12	4384	c.3176A>T	c.(3175-3177)AAT>ATT	p.N1059I	NFAT5_uc002exi.2_Missense_Mutation_p.N983I|NFAT5_uc002exj.1_Missense_Mutation_p.N983I|NFAT5_uc002exk.1_Missense_Mutation_p.N983I|NFAT5_uc002exl.1_Missense_Mutation_p.N1077I|NFAT5_uc002exn.1_Missense_Mutation_p.N1076I|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1059					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CAATCTGGAAATTTTTTGCAG	0.413												
GAN	8139	broad.mit.edu	37	16	81390507	81390507	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:81390507A>G	uc002fgo.2	+	4	899	c.751A>G	c.(751-753)ATA>GTA	p.I251V		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	251					cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				GTGTAGCAATATACCGCTCAG	0.507												
CMIP	80790	broad.mit.edu	37	16	81712153	81712153	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:81712153C>T	uc002fgp.2	+	10	1380	c.1308C>T	c.(1306-1308)CCC>CCT	p.P436P	CMIP_uc002fgq.1_Silent_p.P342P|CMIP_uc010vnq.1_Silent_p.P249P|CMIP_uc002fgr.1_Silent_p.P283P	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	402						cytoplasm|nucleus					0						TGGTCAGCCCCGCCTGCAGCA	0.617												
SLC38A8	146167	broad.mit.edu	37	16	84050849	84050849	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:84050849G>A	uc002fhg.1	-	7	849	c.849C>T	c.(847-849)GAC>GAT	p.D283D		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	283					amino acid transport|sodium ion transport	integral to membrane					0						ACATCAAGACGTCAGCAGAAA	0.517												
TSR1	55720	broad.mit.edu	37	17	2237832	2237832	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:2237832G>A	uc002fuj.2	-	5	1872	c.915C>T	c.(913-915)CCC>CCT	p.P305P	SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	305					ribosome assembly	nucleolus	protein binding			ovary(1)	1						AAGGGTCTCCGGGGGCATCTA	0.418												
MYBBP1A	10514	broad.mit.edu	37	17	4453567	4453567	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:4453567G>A	uc002fyb.3	-	9	1167	c.1105C>T	c.(1105-1107)CGG>TGG	p.R369W	MYBBP1A_uc002fxz.3_Missense_Mutation_p.R369W	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	369	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						GCCAGCTGCCGCTCAGGGTCA	0.607												
GPR172B	55065	broad.mit.edu	37	17	4936399	4936399	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:4936399C>T	uc002gap.3	-	5	1913	c.1200G>A	c.(1198-1200)CTG>CTA	p.L400L	GPR172B_uc002gao.3_Silent_p.L400L|GPR172B_uc010ckw.2_Silent_p.L278L|GPR172B_uc010ckx.2_3'UTR	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	400						integral to plasma membrane	receptor activity|riboflavin transporter activity				0						CCCCACCATGCAGCAGGGAGC	0.617												
NLRP1	22861	broad.mit.edu	37	17	5442750	5442750	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:5442750T>C	uc002gci.2	-	7	3410	c.2855A>G	c.(2854-2856)AAA>AGA	p.K952R	NLRP1_uc002gcg.1_Missense_Mutation_p.K952R|NLRP1_uc002gck.2_Missense_Mutation_p.K952R|NLRP1_uc002gcj.2_Missense_Mutation_p.K952R|NLRP1_uc002gcl.2_Missense_Mutation_p.K952R|NLRP1_uc002gch.3_Missense_Mutation_p.K952R|NLRP1_uc010clh.2_Missense_Mutation_p.K952R	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	952	LRR 6.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				GCGTATGAGTTTGCAGGCAGG	0.557												
WSCD1	23302	broad.mit.edu	37	17	6023723	6023723	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:6023723C>T	uc010cli.2	+	9	1849	c.1470C>T	c.(1468-1470)TAC>TAT	p.Y490Y	WSCD1_uc002gcn.2_Silent_p.Y490Y|WSCD1_uc002gco.2_Silent_p.Y490Y|WSCD1_uc010clj.2_Silent_p.Y181Y	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	490						integral to membrane	sulfotransferase activity				0						TGGTGCACTACGAGGAGCTGC	0.627												
CLEC10A	10462	broad.mit.edu	37	17	6978442	6978442	+	Silent	SNP	G	G	A	rs139844327	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:6978442G>A	uc002gek.2	-	9	1185	c.882C>T	c.(880-882)GAC>GAT	p.D294D	CLEC10A_uc002gej.2_Silent_p.D270D|CLEC10A_uc002gel.2_Silent_p.D267D|CLEC10A_uc010clv.1_3'UTR	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	C-type lectin, superfamily member 14 isoform 1	294	C-type lectin.|Extracellular (Potential).				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding				0						TCTGGCAGACGTCGTCATTCC	0.657												
MYH10	4628	broad.mit.edu	37	17	8380246	8380246	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:8380246C>T	uc002gll.2	-	40	5830	c.5734G>A	c.(5734-5736)GAG>AAG	p.E1912K	MYH10_uc002glm.2_Missense_Mutation_p.E1943K|MYH10_uc010cnx.2_Missense_Mutation_p.E1921K	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1912	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TCGTTGGCCTCGGTGGCATCA	0.617												
MYH2	4620	broad.mit.edu	37	17	10429940	10429940	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:10429940C>T	uc010coi.2	-	30	4291	c.4163G>A	c.(4162-4164)CGC>CAC	p.R1388H	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1388H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1388	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1388H(1)		ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTCCTCTGTGCGCTGGATGGC	0.512												
NCOR1	9611	broad.mit.edu	37	17	16024467	16024467	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:16024467C>T	uc002gpo.2	-	16	1991	c.1751G>A	c.(1750-1752)CGG>CAG	p.R584Q	NCOR1_uc002gpn.2_Missense_Mutation_p.R584Q|NCOR1_uc002gpp.1_Missense_Mutation_p.R475Q|NCOR1_uc002gpr.2_Missense_Mutation_p.R475Q	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	584					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCTGGTGATCCGGCCCTTACG	0.607												
RAI1	10743	broad.mit.edu	37	17	17701303	17701303	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:17701303A>G	uc002grm.2	+	3	5510	c.5041A>G	c.(5041-5043)AGT>GGT	p.S1681G	RAI1_uc002grn.1_Missense_Mutation_p.S1681G	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1681						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CAAGGCCCTGAGTACCTCTTG	0.627												
SREBF1	6720	broad.mit.edu	37	17	17722871	17722871	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:17722871G>A	uc002gru.1	-	3	886	c.692C>T	c.(691-693)TCG>TTG	p.S231L	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Missense_Mutation_p.S207L|SREBF1_uc002grt.1_Missense_Mutation_p.S261L|SREBF1_uc010cpp.1_Missense_Mutation_p.S207L|SREBF1_uc010cpq.1_Missense_Mutation_p.S231L	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	231	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CTGGATCTGCGAGGTCACAGT	0.667												
MYO15A	51168	broad.mit.edu	37	17	18023440	18023440	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:18023440C>T	uc010vxh.1	+	2	1664	c.1326C>T	c.(1324-1326)GGC>GGT	p.G442G		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	442	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					AGGACGCGGGCGTAGAGCGTC	0.657												
FBXW10	10517	broad.mit.edu	37	17	18673378	18673378	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:18673378C>T	uc002guk.2	+	11	2218	c.1986C>T	c.(1984-1986)TCC>TCT	p.S662S	FBXW10_uc002guj.2_Silent_p.S662S|FBXW10_uc002gul.2_Silent_p.S691S|FBXW10_uc010cqh.1_Intron	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	662										ovary(1)	1						CTGTGCTGTCCTTCTTTATTC	0.473												
EPN2	22905	broad.mit.edu	37	17	19186802	19186802	+	Missense_Mutation	SNP	C	C	T	rs139687943		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:19186802C>T	uc002gvd.3	+	3	818	c.370C>T	c.(370-372)CGT>TGT	p.R124C	EPN2_uc002gvc.2_Missense_Mutation_p.R124C|EPN2_uc010vyn.1_Missense_Mutation_p.R124C|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.R124C|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.R124C|EPN2_uc010vyp.1_Missense_Mutation_p.R124C|EPN2_uc010vyq.1_Missense_Mutation_p.R124C|EPN2_uc002gvh.1_Missense_Mutation_p.R124C	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	124	ENTH.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CATCAATGTGCGTGAGAAGTC	0.572												
WSB1	26118	broad.mit.edu	37	17	25630636	25630636	+	Silent	SNP	T	T	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:25630636T>A	uc002gzd.1	+	3	769	c.453T>A	c.(451-453)CGT>CGA	p.R151R	WSB1_uc010vzy.1_Silent_p.R151R|WSB1_uc010vzz.1_Silent_p.R120R|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_RNA	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box-containing 1 isoform 1	151	WD 2.				intracellular signal transduction	intracellular	protein binding				0	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		ACAATGGGCGTATCAAAATAT	0.388												
PIGS	94005	broad.mit.edu	37	17	26881438	26881438	+	Missense_Mutation	SNP	C	C	T	rs61755367	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:26881438C>T	uc002hbo.2	-	12	1841	c.1468G>A	c.(1468-1470)GCC>ACC	p.A490T	UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Missense_Mutation_p.A482T|PIGS_uc010wap.1_Missense_Mutation_p.A429T	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	490	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					TCCTGGCTGGCGACAAAGGCA	0.547												
NEK8	284086	broad.mit.edu	37	17	27067956	27067956	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:27067956C>A	uc002hcp.2	+	12	1685	c.1685C>A	c.(1684-1686)CCT>CAT	p.P562H		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	562						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					GACCAGGAGCCTCTGCTGAGT	0.627												
SLC6A4	6532	broad.mit.edu	37	17	28536212	28536212	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:28536212C>T	uc002hey.3	-	12	2042	c.1498G>A	c.(1498-1500)GCA>ACA	p.A500T	SLC6A4_uc010csg.2_Intron	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	500	Helical; Name=10; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GTGAGCACTGCGGGCCCCGTG	0.632												
EVI2A	2123	broad.mit.edu	37	17	29645465	29645465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:29645465C>T	uc002hgm.2	-	2	782	c.567G>A	c.(565-567)TGG>TGA	p.W189*	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Nonsense_Mutation_p.W212*	NM_014210	NP_055025	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A isoform 2	189	Cytoplasmic (Potential).					integral to membrane	transmembrane receptor activity			ovary(1)|breast(1)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		ATTCAGCGGGCCATAGACCGC	0.473												
RASL10B	91608	broad.mit.edu	37	17	34068069	34068069	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:34068069A>G	uc002hju.2	+	4	723	c.357A>G	c.(355-357)TCA>TCG	p.S119S		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B precursor	119	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			lung(2)|breast(2)	4				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCGGAACCTCAGAGACGCCCA	0.637												
GPR179	440435	broad.mit.edu	37	17	36489178	36489178	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:36489178C>T	uc002hpz.2	-	10	2014	c.1993G>A	c.(1993-1995)GCC>ACC	p.A665T		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	665	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAGGCTGAGGCGATGCTGCTG	0.612												
KRT24	192666	broad.mit.edu	37	17	38855782	38855782	+	Silent	SNP	G	G	A	rs139679856		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:38855782G>A	uc002hvd.2	-	6	1332	c.1275C>T	c.(1273-1275)AAC>AAT	p.N425N		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	425	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				TGTACTCTGCGTTCTGGCATT	0.547												
KRT23	25984	broad.mit.edu	37	17	39092491	39092491	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:39092491T>C	uc002hvm.1	-	2	954	c.365A>G	c.(364-366)TAT>TGT	p.Y122C	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.Y122C|KRT23_uc002hvn.1_Missense_Mutation_p.Y122C	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	122	Rod.|Linker 1.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				GTTTTCCTCATACTGGGAATA	0.542												
KRT23	25984	broad.mit.edu	37	17	39092616	39092616	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:39092616G>A	uc002hvm.1	-	2	829	c.240C>T	c.(238-240)AAC>AAT	p.N80N	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.N80N|KRT23_uc002hvn.1_Silent_p.N80N	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	80	Rod.|Coil 1A.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				CCAGGCGGTCGTTGAGATTCT	0.612												
KRT32	3882	broad.mit.edu	37	17	39622145	39622145	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:39622145C>T	uc002hwr.2	-	3	649	c.588G>A	c.(586-588)GAG>GAA	p.E196E		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	196	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				TGATGTCGGCCTCCACCAGCT	0.587												
KRT14	3861	broad.mit.edu	37	17	39740077	39740077	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:39740077G>A	uc002hxf.1	-	4	923	c.862C>T	c.(862-864)CGT>TGT	p.R288C	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.R288C	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	288	Rod.|Coil 2.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				TACTGGTCACGCATCTCGTTC	0.557												
HSD17B1	3292	broad.mit.edu	37	17	40705214	40705214	+	Missense_Mutation	SNP	C	C	T	rs61738807		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:40705214C>T	uc002hzw.2	+	2	1138	c.170C>T	c.(169-171)CCG>CTG	p.P57L	HSD17B1_uc002hzx.2_Missense_Mutation_p.P57L|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Missense_Mutation_p.G123R|HSD17B1_uc010cyi.2_Missense_Mutation_p.P88L	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	57					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GCATGCCCTCCGGGATCCCTG	0.652												
AOC2	314	broad.mit.edu	37	17	40997145	40997145	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:40997145C>A	uc002ibu.2	+	1	537	c.502C>A	c.(502-504)CTG>ATG	p.L168M	AOC2_uc002ibt.2_Missense_Mutation_p.L168M	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	168					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGCCCGGTGCTGAGAGCTGA	0.607												
ETV4	2118	broad.mit.edu	37	17	41606543	41606543	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:41606543C>T	uc002idw.2	-	12	1318	c.1190G>A	c.(1189-1191)CGC>CAC	p.R397H	ETV4_uc002idv.2_Missense_Mutation_p.R120H|ETV4_uc010wih.1_Missense_Mutation_p.R343H|ETV4_uc010czh.2_Missense_Mutation_p.R396H|ETV4_uc010wii.1_Missense_Mutation_p.R358H|ETV4_uc002idx.2_Missense_Mutation_p.R397H|ETV4_uc010wij.1_Missense_Mutation_p.R358H	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	397	ETS.				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TCGGAGCGAGCGGCTCAGCTT	0.562			T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma							
GPATCH8	23131	broad.mit.edu	37	17	42475981	42475981	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:42475981C>T	uc002igw.1	-	8	3528	c.3464G>A	c.(3463-3465)CGA>CAA	p.R1155Q	GPATCH8_uc002igv.1_Missense_Mutation_p.R1077Q|GPATCH8_uc010wiz.1_Missense_Mutation_p.R1077Q	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1155						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATTGGGCTTTCGGGTAGCTGG	0.552												
ARHGAP27	201176	broad.mit.edu	37	17	43475388	43475388	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:43475388T>C	uc002iix.2	-	10	1195	c.746A>G	c.(745-747)TAC>TGC	p.Y249C	ARHGAP27_uc010dak.2_Missense_Mutation_p.Y222C|ARHGAP27_uc010wjl.1_Missense_Mutation_p.Y368C	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	590	PH.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					CTGGATCAGGTACTCAGAGCC	0.612												
CRHR1	1394	broad.mit.edu	37	17	43907538	43907538	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:43907538G>A	uc010dap.2	+	7	865	c.600G>A	c.(598-600)GTG>GTA	p.V200V	CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Silent_p.V70V|CRHR1_uc002ijm.2_Silent_p.V171V|CRHR1_uc002ijn.2_Silent_p.V131V|CRHR1_uc010dar.2_Silent_p.V171V|CRHR1_uc010dao.2_Silent_p.V70V|CRHR1_uc010daq.2_Intron|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	200	Helical; Name=2; (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTGGTTCGTGGTCCAGCTAA	0.642												
CRHR1	1394	broad.mit.edu	37	17	43912090	43912090	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:43912090G>A	uc010dap.2	+	14	1560	c.1295G>A	c.(1294-1296)CGT>CAT	p.R432H	CRHR1_uc010wjx.1_Missense_Mutation_p.R228H|CRHR1_uc002ijp.2_Missense_Mutation_p.V257M|CRHR1_uc002ijm.2_Missense_Mutation_p.R403H|CRHR1_uc002ijn.2_Missense_Mutation_p.R363H|CRHR1_uc010dar.2_Missense_Mutation_p.R389H|CRHR1_uc010dao.2_Missense_Mutation_p.R302H|CRHR1_uc010daq.2_Missense_Mutation_p.R228H	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	432	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCCCCAACCCGTGTCAGCTTT	0.642												
HOXB3	3213	broad.mit.edu	37	17	46627995	46627995	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:46627995C>T	uc002inn.2	-	2	1397	c.997G>A	c.(997-999)GTC>ATC	p.V333I	HOXB3_uc010wlm.1_Missense_Mutation_p.V260I|HOXB3_uc010dbf.2_Missense_Mutation_p.V333I|HOXB3_uc010dbg.2_Missense_Mutation_p.V333I|HOXB3_uc002ino.2_Missense_Mutation_p.V333I|HOXB3_uc010wlk.1_Missense_Mutation_p.V201I|HOXB3_uc010wll.1_Missense_Mutation_p.V260I	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	333					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTTGGAGGACGTGCGGCTCA	0.721											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM117A	81558	broad.mit.edu	37	17	47788852	47788852	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:47788852G>T	uc002ipk.2	-	8	1196	c.1127C>A	c.(1126-1128)CCG>CAG	p.P376Q	FAM117A_uc010wlz.1_Missense_Mutation_p.P104Q	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	376										ovary(1)	1						TGAGCCAGTCGGGTTGAAATG	0.562												
KIF2B	84643	broad.mit.edu	37	17	51900882	51900882	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:51900882G>A	uc002iua.2	+	1	644	c.488G>A	c.(487-489)CGC>CAC	p.R163H	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	163	Potential.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						CGGGAAAAGCGCAGGCGGCTG	0.547												
RNF43	54894	broad.mit.edu	37	17	56439936	56439936	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:56439936C>T	uc002iwf.2	-	5	2612	c.656G>A	c.(655-657)CGC>CAC	p.R219H	RNF43_uc010wnv.1_Missense_Mutation_p.R178H|RNF43_uc002iwh.3_Missense_Mutation_p.R219H|RNF43_uc002iwg.3_Missense_Mutation_p.R219H|RNF43_uc010dcw.2_Missense_Mutation_p.R92H	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	219	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCACCGGATGCGCAGCACCGA	0.612												
CCDC45	90799	broad.mit.edu	37	17	62528036	62528036	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:62528036G>A	uc002jem.2	+	14	1626	c.1568G>A	c.(1567-1569)CGT>CAT	p.R523H	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.R359H|CCDC45_uc002jeo.1_5'Flank	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	523						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GAAGCTGTTCGTAAAGGAACT	0.358												
CACNG5	27091	broad.mit.edu	37	17	64881181	64881181	+	Missense_Mutation	SNP	C	C	T	rs141669982		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:64881181C>T	uc010wqi.1	+	6	889	c.652C>T	c.(652-654)CGC>TGC	p.R218C	CACNG5_uc010wqj.1_Missense_Mutation_p.R218C	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	218				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGGCTTCTACCGCCCTCGGCT	0.622												
ABCA5	23461	broad.mit.edu	37	17	67298996	67298996	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:67298996C>T	uc002jif.2	-	7	2200	c.982G>A	c.(982-984)GGA>AGA	p.G328R	ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.G328R|ABCA5_uc002jih.2_Missense_Mutation_p.G328R|ABCA5_uc010dfe.2_Missense_Mutation_p.G328R	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	328	Helical; (Potential).				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					TCAACTATTCCCACATGTTTT	0.308												
DNAI2	64446	broad.mit.edu	37	17	72301522	72301522	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:72301522C>T	uc002jkf.2	+	9	1251	c.1152C>T	c.(1150-1152)GGC>GGT	p.G384G	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	384	WD 4.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						TGACGGTTGGCGACTGGACAG	0.577									Kartagener_syndrome			
KIAA0195	9772	broad.mit.edu	37	17	73482483	73482483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:73482483C>T	uc002jnz.3	+	5	660	c.385C>T	c.(385-387)CGA>TGA	p.R129*	KIAA0195_uc010wsa.1_Nonsense_Mutation_p.R139*	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	129					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGAGGCTGCGAGGGATCAT	0.582												
TRIM65	201292	broad.mit.edu	37	17	73888549	73888549	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:73888549G>A	uc002jpx.2	-	3	579	c.543C>T	c.(541-543)TCC>TCT	p.S181S		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	181	Potential.					intracellular	zinc ion binding				0			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAACTTGCCGGAGACCCAGG	0.647												
FBF1	85302	broad.mit.edu	37	17	73910251	73910251	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:73910251G>A	uc002jqc.2	-	25	3172	c.2898C>T	c.(2896-2898)ACC>ACT	p.T966T	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.T957T|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Silent_p.T276T	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	966											0						CACGCAGGGCGGTGGCGTTGA	0.692												
FBF1	85302	broad.mit.edu	37	17	73915794	73915794	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:73915794G>A	uc002jqc.2	-	19	2322	c.2048C>T	c.(2047-2049)GCG>GTG	p.A683V	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.A674V|FBF1_uc002jqd.1_Missense_Mutation_p.A684V|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_5'UTR	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	683											0						CTTCTCCTGCGCTATGGCCGC	0.657												
EVPL	2125	broad.mit.edu	37	17	74018596	74018596	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:74018596G>A	uc002jqi.2	-	5	732	c.504C>T	c.(502-504)TAC>TAT	p.Y168Y	EVPL_uc010wss.1_Silent_p.Y168Y|EVPL_uc010wst.1_Translation_Start_Site	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	168	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TGCCCGGCCCGTACTGGCCTG	0.682												
TNRC6C	57690	broad.mit.edu	37	17	76075622	76075622	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:76075622G>T	uc002jud.2	+	11	3957	c.3357G>T	c.(3355-3357)CAG>CAT	p.Q1119H	TNRC6C_uc002juf.2_Missense_Mutation_p.Q1116H	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1119					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TATCCCCTCAGGTCAGACCCA	0.537												
ENPP7	339221	broad.mit.edu	37	17	77709045	77709045	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:77709045G>A	uc002jxa.2	+	3	623	c.603G>A	c.(601-603)ACG>ACA	p.T201T		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	201					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGACTCCACGGGCCACAGGT	0.652												
RNF213	57674	broad.mit.edu	37	17	78363631	78363631	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:78363631T>C	uc002jyh.1	+	41	9641	c.9418T>C	c.(9418-9420)TTA>CTA	p.L3140L	uc002jyi.1_Intron|RNF213_uc010dhx.1_Silent_p.L84L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCTGCAGGCCTTAAACAGATG	0.537												
ARL16	339231	broad.mit.edu	37	17	79648877	79648877	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:79648877A>G	uc002kbf.2	-	5	554	c.455T>C	c.(454-456)ATG>ACG	p.M152T	ARL16_uc002kbe.2_Missense_Mutation_p.M81T|HGS_uc010wus.1_5'Flank|HGS_uc002kbg.2_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	152							GTP binding				0	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TAATGACTTCATCTCCTCCGT	0.577												
YES1	7525	broad.mit.edu	37	18	732849	732849	+	Silent	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:732849G>T	uc002kky.2	-	11	1629	c.1408C>A	c.(1408-1410)CGA>AGA	p.R470R	YES1_uc002kkz.2_Silent_p.R470R	NM_005433	NP_005424	P07947	YES_HUMAN	viral oncogene yes-1 homolog 1	470	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)	3					Dasatinib(DB01254)	TATGGCACTCGGCCCTTTGTT	0.418												
LAMA1	284217	broad.mit.edu	37	18	7023203	7023203	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:7023203G>A	uc002knm.2	-	19	2755	c.2661C>T	c.(2659-2661)GAC>GAT	p.D887D	LAMA1_uc010wzj.1_Silent_p.D363D	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	887	Laminin EGF-like 8.				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)	CATAGAACCCGTCAGCACACC	0.587												
KIAA0802	23255	broad.mit.edu	37	18	8813106	8813106	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:8813106C>T	uc002knr.2	+	12	2876	c.2734C>T	c.(2734-2736)CGC>TGC	p.R912C	KIAA0802_uc002knq.2_Missense_Mutation_p.R871C|KIAA0802_uc002kns.2_Missense_Mutation_p.R280C	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1222											0						CATGGACCTGCGCTGGCAGAT	0.592												
C18orf10	25941	broad.mit.edu	37	18	34408646	34408646	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:34408646C>A	uc002kzw.1	-	1	513	c.85G>T	c.(85-87)GAA>TAA	p.E29*	KIAA1328_uc002kzz.2_5'Flank|C18orf10_uc002kzv.1_Nonsense_Mutation_p.E29*|C18orf10_uc010xci.1_Nonsense_Mutation_p.E29*|C18orf10_uc002kzx.1_Nonsense_Mutation_p.E29*|C18orf10_uc002kzy.3_Nonsense_Mutation_p.E29*	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	29						cytoplasm|microtubule				skin(1)	1						CTTTCCTCACCTAGGATGCGC	0.682												
ATP5A1	498	broad.mit.edu	37	18	43666116	43666116	+	Silent	SNP	G	G	A	rs143320751		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:43666116G>A	uc002lbr.1	-	10	1482	c.1392C>T	c.(1390-1392)GGC>GGT	p.G464G	ATP5A1_uc010dnl.1_Silent_p.G414G|ATP5A1_uc002lbs.1_Silent_p.G414G|ATP5A1_uc002lbt.1_Silent_p.G464G	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	464					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism				0						TTAGACGCACGCCACGACTCA	0.478												
MBD1	4152	broad.mit.edu	37	18	47800666	47800666	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:47800666G>A	uc010dow.1	-	11	1473	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Missense_Mutation_p.R296W|MBD1_uc010xdi.1_Missense_Mutation_p.R397W|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_Missense_Mutation_p.R346W|MBD1_uc002lei.3_Missense_Mutation_p.R346W|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_Missense_Mutation_p.R297W|MBD1_uc002lel.3_Missense_Mutation_p.R323W|MBD1_uc002lem.3_Missense_Mutation_p.R346W|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_Missense_Mutation_p.R371W|MBD1_uc010dox.1_Missense_Mutation_p.R323W|MBD1_uc002leo.2_Missense_Mutation_p.R346W	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	346	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						TCCATCCGCCGTAGGCAGGCT	0.642												
C18orf54	162681	broad.mit.edu	37	18	51888230	51888230	+	Missense_Mutation	SNP	T	T	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:51888230T>A	uc002lfn.3	+	3	617	c.501T>A	c.(499-501)AAT>AAA	p.N167K	C18orf54_uc002lfo.3_Missense_Mutation_p.N167K	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	167						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TTGAGAAGAATCCACATTTTC	0.403												
ALPK2	115701	broad.mit.edu	37	18	56171292	56171292	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:56171292A>G	uc002lhj.3	-	11	6332	c.6118T>C	c.(6118-6120)TAT>CAT	p.Y2040H		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	2040	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						CTGATGGAATACTTCACAAAT	0.443												
FBXO15	201456	broad.mit.edu	37	18	71740947	71740947	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:71740947C>T	uc002lle.2	-	10	1390	c.1054G>A	c.(1054-1056)GTA>ATA	p.V352I	FBXO15_uc002lld.2_RNA|FBXO15_uc002llf.2_Missense_Mutation_p.V428I	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	352										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAAAGAGTTACGTCCATCATG	0.453												
NFATC1	4772	broad.mit.edu	37	18	77246762	77246762	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:77246762G>A	uc010xfg.1	+	9	3060	c.2607G>A	c.(2605-2607)CCG>CCA	p.P869P	NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Silent_p.P397P|NFATC1_uc002lnf.2_Silent_p.P856P|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	869	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CAGCGTGCCCGCCCGCCACGG	0.726												
ODF3L2	284451	broad.mit.edu	37	19	474683	474683	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:474683G>A	uc002lor.2	-	1	301	c.65C>T	c.(64-66)ACG>ATG	p.T22M	ODF3L2_uc010drp.2_Missense_Mutation_p.T22M	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	22											0						CTGGCCCTCCGTCACTCGCCG	0.711												
HCN2	610	broad.mit.edu	37	19	605121	605121	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:605121A>G	uc002lpe.2	+	3	1170	c.1117A>G	c.(1117-1119)ATG>GTG	p.M373V		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	373	Helical; Name=Segment S5; (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCATCAGCATGATGCTGCT	0.607												
HCN2	610	broad.mit.edu	37	19	613949	613949	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:613949G>A	uc002lpe.2	+	7	1976	c.1923G>A	c.(1921-1923)GTG>GTA	p.V641V		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	641	cAMP.|Cytoplasmic (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAACGAGGTGCTGGAGGAGT	0.706												
GRIN3B	116444	broad.mit.edu	37	19	1003296	1003296	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:1003296C>T	uc002lqo.1	+	2	594	c.594C>T	c.(592-594)CCC>CCT	p.P198P		NM_138690	NP_619635	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic,	198	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CTGGCCGGCCCCCACAGCTGG	0.746												
CNN2	1265	broad.mit.edu	37	19	1036231	1036231	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:1036231G>A	uc002lqu.2	+	5	856	c.493G>A	c.(493-495)GTC>ATC	p.V165I	CNN2_uc002lqt.1_Intron|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Intron|CNN2_uc010xgb.1_Missense_Mutation_p.V154I|CNN2_uc010xgc.1_Missense_Mutation_p.V186I	NM_004368	NP_004359	Q99439	CNN2_HUMAN	calponin 2 isoform a	165				V -> G (in Ref. 4; BAA20887).	actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCAGTGCGTCATCGGGCT	0.642												
PCSK4	54760	broad.mit.edu	37	19	1486876	1486876	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:1486876G>A	uc002ltb.1	-	8	1106	c.1044C>T	c.(1042-1044)AGC>AGT	p.S348S	PCSK4_uc002lsz.2_5'Flank|PCSK4_uc002lta.2_Silent_p.S160S	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	348	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCACGCCGCTGCTGTAGG	0.701												
MKNK2	2872	broad.mit.edu	37	19	2046391	2046391	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:2046391G>A	uc002lus.2	-	4	461	c.216C>T	c.(214-216)ACC>ACT	p.T72T	MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_5'UTR|MKNK2_uc002lur.2_Silent_p.T72T	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	72					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGCTGTCGGTGGCCCGGC	0.687												
GNA15	2769	broad.mit.edu	37	19	3151745	3151745	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:3151745G>A	uc002lxf.2	+	4	784	c.526G>A	c.(526-528)GTC>ATC	p.V176I		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	176					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GGAGGGCTACGTCCCCACAGC	0.632												
ZFR2	23217	broad.mit.edu	37	19	3821382	3821382	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:3821382C>T	uc002lyw.2	-	10	1599	c.1587G>A	c.(1585-1587)GCG>GCA	p.A529A	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	529	Potential.					intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCCGCTCCTCCGCCAGGTGCC	0.697												
SH3GL1	6455	broad.mit.edu	37	19	4365576	4365576	+	Silent	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:4365576C>A	uc002maj.2	-	4	340	c.234G>T	c.(232-234)CGG>CGT	p.R78R	SH3GL1_uc002mak.2_Silent_p.R78R|SH3GL1_uc010xig.1_Intron	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	78	Required for dimerization upon membrane association (By similarity).|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCACCTGGCCCCGGATCTTGG	0.657			T	MLL	AL							
C19orf10	56005	broad.mit.edu	37	19	4658063	4658063	+	Missense_Mutation	SNP	A	A	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:4658063A>C	uc002may.2	-	6	545	c.476T>G	c.(475-477)CTG>CGG	p.L159R		NM_019107	NP_061980	Q969H8	CS010_HUMAN	hypothetical protein LOC56005 precursor	159						ER-Golgi intermediate compartment|extracellular region					0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		CAGCTTGGACAGCTCAGCTTT	0.567												
PTPRS	5802	broad.mit.edu	37	19	5212381	5212381	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:5212381G>A	uc002mbv.2	-	31	4970	c.4736C>T	c.(4735-4737)CCG>CTG	p.P1579L	PTPRS_uc002mbu.1_Missense_Mutation_p.P1148L|PTPRS_uc010xin.1_Missense_Mutation_p.P1121L|PTPRS_uc002mbw.2_Missense_Mutation_p.P1541L|PTPRS_uc002mbx.2_Missense_Mutation_p.P1136L|PTPRS_uc002mby.2_Missense_Mutation_p.P1132L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1579	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				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)		GGCATCTGGCGGGTTGCAGGT	0.672												
ARHGEF18	23370	broad.mit.edu	37	19	7531811	7531811	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:7531811C>T	uc002mgi.2	+	14	2601	c.2348C>T	c.(2347-2349)GCG>GTG	p.A783V	ARHGEF18_uc010xjm.1_Missense_Mutation_p.A625V|ARHGEF18_uc002mgh.2_Missense_Mutation_p.A625V|ARHGEF18_uc002mgj.1_Missense_Mutation_p.A426V	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	783					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				CAGGTGGAGGCGCCAGGCACG	0.587												
FBN3	84467	broad.mit.edu	37	19	8203327	8203327	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:8203327C>T	uc002mjf.2	-	8	1008	c.987G>A	c.(985-987)CCG>CCA	p.P329P		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	329	TB 2.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GCTCAGGGACCGGGCCAGCTG	0.682												
KEAP1	9817	broad.mit.edu	37	19	10610266	10610266	+	Silent	SNP	G	G	A	rs11545828		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:10610266G>A	uc002moq.1	-	2	600	c.444C>T	c.(442-444)GGC>GGT	p.G148G	KEAP1_uc002mor.1_Silent_p.G148G	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	148	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CACACTTCTCGCCCATGGAGA	0.592												
RAB3D	9545	broad.mit.edu	37	19	11446214	11446214	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:11446214G>A	uc002mqy.2	-	4	619	c.381C>T	c.(379-381)AAC>AAT	p.N127N		NM_004283	NP_004274	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	127					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(2)	2						TGACCTGGGCGTTGTCCCAGG	0.607												
PRKCSH	5589	broad.mit.edu	37	19	11552108	11552108	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:11552108G>A	uc002mrt.2	+	6	740	c.404G>A	c.(403-405)CGC>CAC	p.R135H	PRKCSH_uc002mru.2_Missense_Mutation_p.R135H|PRKCSH_uc010xlz.1_Missense_Mutation_p.R135H|PRKCSH_uc010dya.2_Missense_Mutation_p.A104T|PRKCSH_uc002mrv.1_Missense_Mutation_p.R135H|PRKCSH_uc010dyb.2_Missense_Mutation_p.R135H	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	135					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						GAGGTCACCCGCGAAGGGTTC	0.612												
ZNF439	90594	broad.mit.edu	37	19	11978875	11978875	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:11978875T>C	uc002mss.2	+	3	1119	c.991T>C	c.(991-993)TGT>CGT	p.C331R	ZNF439_uc002msr.2_Missense_Mutation_p.C195R	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	331	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						ATGTAAGCAGTGTGGGAAAGC	0.378												
BEST2	54831	broad.mit.edu	37	19	12864133	12864133	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:12864133A>G	uc002mux.2	+	2	212	c.212A>G	c.(211-213)CAG>CGG	p.Q71R		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	71	Helical; (Potential).				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						TATTGTGACCAGTATGCCAGC	0.542												
MAST1	22983	broad.mit.edu	37	19	12969483	12969483	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:12969483G>A	uc002mvm.2	+	12	1424	c.1296G>A	c.(1294-1296)CCG>CCA	p.P432P	MAST1_uc002mvk.2_Silent_p.P428P	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	432	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CCGAGAACCCGTTTGTGGTCG	0.557												
GCDH	2639	broad.mit.edu	37	19	13007752	13007752	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:13007752G>A	uc002mvq.2	+	9	958	c.881G>A	c.(880-882)CGG>CAG	p.R294Q	GCDH_uc010xms.1_Missense_Mutation_p.R261Q|GCDH_uc002mvp.2_Missense_Mutation_p.R294Q|GCDH_uc010xmt.1_Missense_Mutation_p.R128Q|GCDH_uc010xmu.1_Missense_Mutation_p.R250Q	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	294	Substrate binding.		R -> W (in GA1).		lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						AACAACGCCCGGTACGGCATC	0.617												
NANOS3	342977	broad.mit.edu	37	19	13988458	13988458	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:13988458C>T	uc002mxj.3	+	1	509	c.396C>T	c.(394-396)GGC>GGT	p.G132G		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	113					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CACTTACTGGCCAGGGCTACA	0.662												
SLC1A6	6511	broad.mit.edu	37	19	15083604	15083604	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:15083604C>T	uc002naa.1	-	1	127	c.119G>A	c.(118-120)CGC>CAC	p.R40H	SLC1A6_uc010dzu.1_Missense_Mutation_p.R40H|SLC1A6_uc010xod.1_Silent_p.A44A|SLC1A6_uc002nab.2_Missense_Mutation_p.R40H|SLC1A6_uc002nac.2_Missense_Mutation_p.R40H|SLC1A6_uc002nad.1_Missense_Mutation_p.R40H	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	40	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	GGTCTGCAGGCGCAGGCGCGT	0.682												
SYDE1	85360	broad.mit.edu	37	19	15224598	15224598	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:15224598G>A	uc002nah.1	+	8	2063	c.2032G>A	c.(2032-2034)GTG>ATG	p.V678M	SYDE1_uc002nai.1_Missense_Mutation_p.V611M|SYDE1_uc002naj.1_Missense_Mutation_p.V335M	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	678					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						CTACGACCACGTGACGGGCAG	0.672												
EPHX3	79852	broad.mit.edu	37	19	15342858	15342858	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:15342858G>A	uc002nap.2	-	1	374	c.165C>T	c.(163-165)TGC>TGT	p.C55C	EPHX3_uc002naq.2_Silent_p.C55C	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	55						extracellular region	hydrolase activity				0						GGCGCCCGCAGCAGCCGCGCC	0.716												
BRD4	23476	broad.mit.edu	37	19	15354055	15354055	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:15354055G>A	uc002nar.2	-	14	3047	c.2825C>T	c.(2824-2826)ACG>ATG	p.T942M		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	942					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GAGTAGCGGCGTAGGGGGCTG	0.398			T	NUT|C15orf55	lethal midline carcinoma of young people							
CYP4F22	126410	broad.mit.edu	37	19	15651270	15651270	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:15651270T>C	uc002nbh.3	+	8	848	c.681T>C	c.(679-681)AGT>AGC	p.S227S		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	227						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						GGAAGATGAGTGATTATATCT	0.542												
TPM4	7171	broad.mit.edu	37	19	16192753	16192753	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:16192753C>T	uc002ndj.2	+	2	404	c.163C>T	c.(163-165)CGC>TGC	p.R55C	TPM4_uc002ndi.2_Missense_Mutation_p.R91C|TPM4_uc002ndk.1_Translation_Start_Site	NM_003290	NP_003281	P67936	TPM4_HUMAN	tropomyosin 4 isoform 2	55	By similarity.				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	soft_tissue(10)|haematopoietic_and_lymphoid_tissue(2)|breast(1)	13						CCTCAACCGACGCATCCAGCT	0.607			T	ALK	ALCL							
USE1	55850	broad.mit.edu	37	19	17330519	17330519	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:17330519C>T	uc002nfo.2	+	8	737	c.677C>T	c.(676-678)ACG>ATG	p.T226M	USE1_uc010eal.1_3'UTR	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog	226	Cytoplasmic (Potential).|Potential.				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding				0						GAGCAGCACACGCAGAAGTCA	0.507												
USHBP1	83878	broad.mit.edu	37	19	17369181	17369181	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:17369181C>T	uc002nfs.1	-	8	1173	c.1060G>A	c.(1060-1062)GAG>AAG	p.E354K	USHBP1_uc002nfr.1_5'UTR|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E290K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	354							PDZ domain binding			ovary(1)	1						CTGTATGCCTCTTCACAGTGT	0.438												
FAM129C	199786	broad.mit.edu	37	19	17643096	17643096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:17643096C>T	uc010xpr.1	+	4	442	c.304C>T	c.(304-306)CGA>TGA	p.R102*	FAM129C_uc010xpq.1_Nonsense_Mutation_p.R102*|FAM129C_uc010xps.1_Nonsense_Mutation_p.R71*|FAM129C_uc010xpt.1_RNA	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	102											0						CCGTGAGCACCGAGGACCCCT	0.672												
TMEM59L	25789	broad.mit.edu	37	19	18726894	18726894	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:18726894C>T	uc002njy.3	+	4	605	c.518C>T	c.(517-519)ACA>ATA	p.T173I	TMEM59L_uc010ebu.1_Missense_Mutation_p.T173I	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	173						Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						TCCACCTGGACATACTACTTG	0.562												
KLHL26	55295	broad.mit.edu	37	19	18779982	18779982	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:18779982T>C	uc002njz.1	+	3	1802	c.1775T>C	c.(1774-1776)CTG>CCG	p.L592P		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	592	Kelch 6.									ovary(1)	1						GAGCGGGACCTGCACTTCCCG	0.662												
ATP13A1	57130	broad.mit.edu	37	19	19764812	19764812	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:19764812G>A	uc002nnh.3	-	14	1983	c.1955C>T	c.(1954-1956)GCC>GTC	p.A652V	ATP13A1_uc002nne.2_5'Flank|ATP13A1_uc002nnf.3_Missense_Mutation_p.A20V|ATP13A1_uc002nng.2_Missense_Mutation_p.A534V	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	652	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						CCCCTTCACGGCCGCGATGTA	0.632												
ZNF254	9534	broad.mit.edu	37	19	24310333	24310333	+	Missense_Mutation	SNP	A	A	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:24310333A>T	uc002nru.2	+	4	1665	c.1531A>T	c.(1531-1533)ATT>TTT	p.I511F	ZNF254_uc010xrk.1_Missense_Mutation_p.I426F	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	511	C2H2-type 11.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ACATAAGATAATTCATACTGG	0.373												
PLEKHF1	79156	broad.mit.edu	37	19	30165483	30165483	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:30165483A>G	uc002nsh.3	+	2	839	c.737A>G	c.(736-738)GAC>GGC	p.D246G	PLEKHF1_uc002nsi.3_Missense_Mutation_p.D331G	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	246					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AGTGGAGATGACGATGACTCC	0.716												
ZNF536	9745	broad.mit.edu	37	19	31040129	31040129	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:31040129C>T	uc002nsu.1	+	4	3741	c.3603C>T	c.(3601-3603)AGC>AGT	p.S1201S	ZNF536_uc010edd.1_Silent_p.S1201S	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCAAAGACAGCAGCAGCGATG	0.587												
WDR88	126248	broad.mit.edu	37	19	33623132	33623132	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:33623132G>A	uc002nui.2	+	1	135	c.57G>A	c.(55-57)CCG>CCA	p.P19P		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	19										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					GCAAGTTGCCGCCACCCTCCG	0.701												
ARHGAP33	115703	broad.mit.edu	37	19	36276311	36276311	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:36276311G>T	uc002obr.1	+	19	1953	c.1868G>T	c.(1867-1869)GGC>GTC	p.G623V	ARHGAP33_uc002obs.1_Missense_Mutation_p.G623V|ARHGAP33_uc002obt.1_Missense_Mutation_p.G487V|ARHGAP33_uc010eel.2_Missense_Mutation_p.G211V|ARHGAP33_uc002obv.1_Missense_Mutation_p.G211V	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	623					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TCTCCTGCAGGCAGCAGACCC	0.667												
CLIP3	25999	broad.mit.edu	37	19	36517493	36517493	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:36517493G>A	uc010eeq.1	-	4	839	c.557C>T	c.(556-558)CCG>CTG	p.P186L	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.P186L	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	186	ANK 2.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCACCTCGCGGCCTCGCACC	0.672												
ZNF585B	92285	broad.mit.edu	37	19	37678131	37678131	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:37678131T>C	uc002ofq.2	-	5	562	c.308A>G	c.(307-309)GAC>GGC	p.D103G	ZNF585B_uc002ofr.1_5'UTR	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGATTATGGTCCCATAATTT	0.338												
EIF3K	27335	broad.mit.edu	37	19	39116703	39116703	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:39116703C>T	uc002oiz.1	+	4	502	c.315C>T	c.(313-315)CTC>CTT	p.L105L	EIF3K_uc010xuh.1_Silent_p.L105L|EIF3K_uc010xui.1_Silent_p.L18L	NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3,	105					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTTTGTACCTCGGGGACCTGC	0.582												
ACTN4	81	broad.mit.edu	37	19	39207831	39207831	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:39207831C>T	uc002oja.1	+	10	1077	c.1018C>T	c.(1018-1020)CGT>TGT	p.R340C	ACTN4_uc010egc.1_Missense_Mutation_p.R340C	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	340	Spectrin 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGACTACCGGCGTGTGCACAA	0.622												
FBXO27	126433	broad.mit.edu	37	19	39517602	39517602	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:39517602C>T	uc002okh.2	-	5	698	c.616G>A	c.(616-618)GTC>ATC	p.V206I		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	F-box protein 27	206	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			ovary(1)	1	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGAAGTTGGACGAGGAGTCTG	0.557												
FCGBP	8857	broad.mit.edu	37	19	40368737	40368737	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:40368737G>A	uc002omp.3	-	28	12619	c.12611C>T	c.(12610-12612)ACG>ATG	p.T4204M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4204	VWFD 10.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGGGGAGCGTCACGTCTAC	0.602												
LTBP4	8425	broad.mit.edu	37	19	41132959	41132959	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:41132959C>T	uc002ooh.1	+	32	4266	c.4266C>T	c.(4264-4266)TAC>TAT	p.Y1422Y	LTBP4_uc002oog.1_Silent_p.Y1385Y|LTBP4_uc002ooi.1_Silent_p.Y1355Y|LTBP4_uc002ooj.1_Silent_p.Y295Y|LTBP4_uc002ook.1_Silent_p.Y556Y|LTBP4_uc002ool.1_Silent_p.Y434Y|LTBP4_uc010xvp.1_Silent_p.Y182Y	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1422	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GACTCCCCTACGAGTACGGCC	0.632												
CYP2B6	1555	broad.mit.edu	37	19	41509957	41509957	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:41509957G>A	uc002opr.1	+	2	230	c.223G>A	c.(223-225)GTG>ATG	p.V75M	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.V35M	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	75					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCGAGGCCCGTGGTCATGCT	0.532												
BCKDHA	593	broad.mit.edu	37	19	41928113	41928113	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:41928113G>A	uc002oqq.2	+	6	720	c.691G>A	c.(691-693)GTC>ATC	p.V231I	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Missense_Mutation_p.V265I|BCKDHA_uc002oqp.1_Missense_Mutation_p.V123I|BCKDHA_uc002oqr.2_Missense_Mutation_p.V231I|BCKDHA_uc010xvz.1_Missense_Mutation_p.V209I	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	231					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						TGCCAACAGGGTCGTCATCTG	0.637												
CEACAM7	1087	broad.mit.edu	37	19	42187807	42187807	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:42187807G>A	uc002ori.1	-	3	617	c.615C>T	c.(613-615)AGC>AGT	p.S205S	CEACAM7_uc010ehx.2_Silent_p.S205S|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	205	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCTTTGTGGCGCTGAGTAGAA	0.537												
CEACAM5	1048	broad.mit.edu	37	19	42224051	42224051	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:42224051C>T	uc002ork.2	+	7	1816	c.1695C>T	c.(1693-1695)GAC>GAT	p.D565D	CEACAM5_uc002orj.1_Silent_p.D564D|CEACAM5_uc002orl.2_Silent_p.D565D	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	565	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAAGAAATGACGCAAGAGCCT	0.517												
LYPD4	147719	broad.mit.edu	37	19	42343292	42343292	+	Splice_Site	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:42343292C>T	uc002orp.1	-	2	1051	c.67_splice	c.e2+1	p.R23_splice	LYPD4_uc002orq.1_Missense_Mutation_p.R23H	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4 precursor							anchored to membrane|plasma membrane				ovary(1)	1						ACAGGACATACGAGGCAGAGT	0.577												
GRIK5	2901	broad.mit.edu	37	19	42509992	42509992	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:42509992G>A	uc002osj.1	-	16	2181	c.2146C>T	c.(2146-2148)CGC>TGC	p.R716C	GRIK5_uc002osi.1_Missense_Mutation_p.R288C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	716	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AAGGCGTAGCGGGAGTTGAGG	0.597												
CIC	23152	broad.mit.edu	37	19	42791309	42791309	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:42791309G>A	uc002otf.1	+	3	409	c.369G>A	c.(367-369)CCG>CCA	p.P123P		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	123	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GTAAGGGTCCGCCTCCCACCA	0.677			T	DUX4	soft tissue sarcoma							
CIC	23152	broad.mit.edu	37	19	42795157	42795157	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:42795157C>T	uc002otf.1	+	10	2277	c.2237C>T	c.(2236-2238)GCT>GTT	p.A746V		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	746	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CACTTGGTGGCTGGACCCCTG	0.672			T	DUX4	soft tissue sarcoma							
CEACAM1	634	broad.mit.edu	37	19	43026288	43026288	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:43026288G>A	uc002otv.2	-	3	604	c.491C>T	c.(490-492)GCC>GTC	p.A164V	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Missense_Mutation_p.A164V|CEACAM1_uc010eij.2_Missense_Mutation_p.A164V|CEACAM1_uc002otx.2_Missense_Mutation_p.A164V|CEACAM1_uc002oty.2_Missense_Mutation_p.A164V|CEACAM1_uc002otz.2_Missense_Mutation_p.A164V|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.A164V|CEACAM1_uc002oub.2_Missense_Mutation_p.A164V|CEACAM1_uc002ouc.2_Missense_Mutation_p.A164V	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	164	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACAGGTGAAGGCCACAGCATC	0.552												
CEACAM8	1088	broad.mit.edu	37	19	43098935	43098935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:43098935G>A	uc002oud.2	-	1	148	c.46C>T	c.(46-48)CAG>TAG	p.Q16*	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	16					immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				AGGAGCCCCTGCCAGGGGATG	0.627												
ZNF180	7733	broad.mit.edu	37	19	44980971	44980971	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:44980971G>A	uc002ozf.3	-	5	2009	c.1727C>T	c.(1726-1728)CCG>CTG	p.P576L	ZNF180_uc002ozh.3_Missense_Mutation_p.P233L|ZNF180_uc002ozi.3_Missense_Mutation_p.P549L|ZNF180_uc002ozg.3_Missense_Mutation_p.P575L|ZNF180_uc010ejm.2_Missense_Mutation_p.P551L	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P576L(1)		ovary(2)	2		Prostate(69;0.0435)				ACATTCATACGGTTTTTCCCC	0.408												
QPCTL	54814	broad.mit.edu	37	19	46206170	46206170	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:46206170G>A	uc010xxr.1	+	7	1233	c.1012G>A	c.(1012-1014)GTG>ATG	p.V338M	QPCTL_uc010ekn.2_Missense_Mutation_p.V244M	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	338					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AGGGGTACCCGTGCTCCATCT	0.602												
DMPK	1760	broad.mit.edu	37	19	46280705	46280705	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:46280705G>A	uc002pdd.1	-	7	1600	c.1056C>T	c.(1054-1056)CTC>CTT	p.L352L	DMPK_uc010xxs.1_Silent_p.L253L|DMPK_uc002pde.1_Silent_p.L352L|DMPK_uc002pdf.1_Silent_p.L342L|DMPK_uc002pdg.1_Silent_p.L342L|DMPK_uc002pdh.1_Silent_p.L342L|DMPK_uc002pdi.1_Silent_p.L368L|DMPK_uc010xxt.1_Silent_p.L342L	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	352	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CATCCCAGTCGAGGCCAAAGA	0.622												
DMWD	1762	broad.mit.edu	37	19	46289222	46289222	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:46289222G>A	uc002pdj.1	-	3	1578	c.1532C>T	c.(1531-1533)GCG>GTG	p.A511V	DMWD_uc002pdk.1_Missense_Mutation_p.A511V|DMWD_uc010eko.1_Missense_Mutation_p.A196V	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	511					meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		AGGCTCTGCCGCCACACCCGG	0.726												
IGFL2	147920	broad.mit.edu	37	19	46663963	46663963	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:46663963G>A	uc010xxv.1	+	3	202	c.166G>A	c.(166-168)GCC>ACC	p.A56T	IGFL2_uc002peb.2_Missense_Mutation_p.A67T	NM_001135113	NP_001128585	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2 isoform b	56						extracellular region	protein binding				0		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TTACAATGACGCCATCGTGTC	0.592												
STRN4	29888	broad.mit.edu	37	19	47225520	47225520	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:47225520G>A	uc002pfl.2	-	15	2017	c.1984C>T	c.(1984-1986)CGC>TGC	p.R662C	STRN4_uc002pfm.2_Missense_Mutation_p.R669C|STRN4_uc010xyf.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	662	WD 5.					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TCCAGGAAGCGGATGCCCCTG	0.607												
SYNGR4	23546	broad.mit.edu	37	19	48876813	48876813	+	Missense_Mutation	SNP	G	G	A	rs139662043		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:48876813G>A	uc002piz.2	+	3	378	c.133G>A	c.(133-135)GGC>AGC	p.G45S		NM_012451	NP_036583	O95473	SNG4_HUMAN	synaptogyrin 4	45	MARVEL.|Helical; (Potential).					integral to membrane					0		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GCTGACCGACGGCTACCAGAA	0.592												
LMTK3	114783	broad.mit.edu	37	19	49012113	49012113	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:49012113C>T	uc002pjk.2	-	6	639	c.639G>A	c.(637-639)CCG>CCA	p.P213P		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGTACCTGTACGGCTGTGCTT	0.463												
HSD17B14	51171	broad.mit.edu	37	19	49316486	49316486	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:49316486G>A	uc002pkv.1	-	9	1025	c.759C>T	c.(757-759)TAC>TAT	p.Y253Y	BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_3'UTR	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	dehydrogenase/reductase (SDR family) member 10	253					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity				0		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CCTTGCACCCGTACCCCAGCT	0.642												
TULP2	7288	broad.mit.edu	37	19	49391390	49391390	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:49391390G>A	uc002pkz.2	-	8	916	c.765C>T	c.(763-765)CAC>CAT	p.H255H		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	255					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGGAGGCTTCGTGCCTCATAT	0.627												
PRR12	57479	broad.mit.edu	37	19	50105065	50105065	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:50105065G>A	uc002poo.3	+	6	4663	c.4663G>A	c.(4663-4665)GCG>ACG	p.A1555T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	734							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCAGGAGACGGCGGCAGTGTG	0.692												
SCAF1	58506	broad.mit.edu	37	19	50156708	50156708	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:50156708C>T	uc002poq.2	+	7	3186	c.3062C>T	c.(3061-3063)GCG>GTG	p.A1021V		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1021	Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGAGGTGGGGCggaggaggag	0.498												
IRF3	3661	broad.mit.edu	37	19	50165476	50165476	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:50165476C>T	uc010end.1	-	6	1093	c.711G>A	c.(709-711)ACG>ACA	p.T237T	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Intron|IRF3_uc002pox.1_Silent_p.T237T|IRF3_uc002poy.1_Silent_p.T237T|IRF3_uc002pou.2_Silent_p.T237T|IRF3_uc002pov.2_Silent_p.T91T|IRF3_uc002pow.2_Silent_p.T237T|IRF3_uc002poz.1_Silent_p.T237T|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	237	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		ATCCAGGCAGCGTCCTGTCTC	0.652												
POLD1	5424	broad.mit.edu	37	19	50916998	50916998	+	Splice_Site	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:50916998G>T	uc002psb.3	+	19	2307	c.2251_splice	c.e19-1	p.V751_splice	POLD1_uc002psc.3_Splice_Site_p.V751_splice|POLD1_uc010enx.2_Splice_Site|POLD1_uc010eny.2_Splice_Site_p.V777_splice	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACCGCCCGCAGGTGGTGTATG	0.642								DNA_polymerases_(catalytic_subunits)				
FPR1	2357	broad.mit.edu	37	19	52249833	52249833	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:52249833C>T	uc002pxq.2	-	2	510	c.415G>A	c.(415-417)GTG>ATG	p.V139M		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	139	Cytoplasmic (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCCAGGCTCACGGTGCGGTGG	0.552												
MYADM	91663	broad.mit.edu	37	19	54377407	54377407	+	Silent	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:54377407G>T	uc002qcl.2	+	3	772	c.624G>T	c.(622-624)GCG>GCT	p.A208A	MYADM_uc002qcm.2_Silent_p.A208A|MYADM_uc002qcn.2_Silent_p.A208A|MYADM_uc002qco.2_Silent_p.A208A|MYADM_uc002qcp.2_Silent_p.A208A	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	208	MARVEL 2.|Helical; (Potential).					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GGTGCGTGGCGGTGTACGCCA	0.622												
PRKCG	5582	broad.mit.edu	37	19	54395051	54395051	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:54395051C>T	uc002qcq.1	+	6	935	c.653C>T	c.(652-654)ACG>ATG	p.T218M	PRKCG_uc010eqz.1_Missense_Mutation_p.T218M|PRKCG_uc010yef.1_Missense_Mutation_p.T218M|PRKCG_uc010yeg.1_Missense_Mutation_p.T218M|PRKCG_uc010yeh.1_Missense_Mutation_p.T105M	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	218	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GTGAAAGCCACGCTAAACCCT	0.537												
LILRB2	10288	broad.mit.edu	37	19	54783647	54783647	+	Silent	SNP	T	T	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:54783647T>G	uc002qfb.2	-	4	620	c.354A>C	c.(352-354)ACA>ACC	p.T118T	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.T118T|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.T118T|LILRB2_uc010yet.1_Silent_p.T2T|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	118	Extracellular (Potential).|Ig-like C2-type 2.				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)		TCCTCTCACCTGTCATCACCA	0.617												
NLRP7	199713	broad.mit.edu	37	19	55449463	55449463	+	Missense_Mutation	SNP	C	C	T	rs104895502		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:55449463C>T	uc002qih.3	-	5	2154	c.2078G>A	c.(2077-2079)CGG>CAG	p.R693Q	NLRP7_uc002qig.3_Missense_Mutation_p.R665Q|NLRP7_uc002qii.3_Missense_Mutation_p.R693Q|NLRP7_uc010esk.2_Missense_Mutation_p.R693Q|NLRP7_uc010esl.2_Missense_Mutation_p.R721Q	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	693	LRR 2.		R -> W (in HYDM).|R -> P (in HYDM).|R -> Q (in HYDM).				ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		ACAAAGAATCCGCACAGAAGA	0.468												
NLRP11	204801	broad.mit.edu	37	19	56321602	56321602	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:56321602G>A	uc010ygf.1	-	5	1085	c.374C>T	c.(373-375)TCG>TTG	p.S125L	NLRP11_uc002qlz.2_Missense_Mutation_p.S26L|NLRP11_uc002qmb.2_Missense_Mutation_p.S26L|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	125							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CACATCTGACGAAACGTCACG	0.383												
ZNF460	10794	broad.mit.edu	37	19	57803241	57803241	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:57803241A>G	uc002qog.2	+	3	1654	c.1332A>G	c.(1330-1332)GGA>GGG	p.G444G	ZNF460_uc010ygv.1_Silent_p.G403G	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	444					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)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCATACTGGAGAGAAGCCGT	0.483												
ZNF772	400720	broad.mit.edu	37	19	57986509	57986509	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:57986509T>C	uc002qot.2	-	4	466	c.205A>G	c.(205-207)ACA>GCA	p.T69A	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Intron|ZNF772_uc010ygz.1_Intron|ZNF772_uc010yha.1_Intron|ZNF772_uc002qou.2_Intron	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		ATGAAAGATGTATGTCCTAAG	0.448												
ZNF497	162968	broad.mit.edu	37	19	58868276	58868276	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:58868276G>A	uc002qsh.1	-	3	915	c.726C>T	c.(724-726)GGC>GGT	p.G242G	A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Silent_p.G242G|uc002qsj.1_5'UTR|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCGGCCGCGCGCCCGTGTGCA	0.697												
TPO	7173	broad.mit.edu	37	2	1481016	1481016	+	Silent	SNP	G	G	A	rs145985334	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:1481016G>A	uc002qww.2	+	8	1069	c.978G>A	c.(976-978)GCG>GCA	p.A326A	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.A326A|TPO_uc002qwr.2_Silent_p.A326A|TPO_uc002qwx.2_Silent_p.A326A|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Silent_p.A326A	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	326	Extracellular (Potential).		A -> T (in TDH2A).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCCTGGACGCGTCCACCGTGT	0.706												
PXDN	7837	broad.mit.edu	37	2	1648403	1648403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:1648403G>A	uc002qxa.2	-	18	3794	c.3730C>T	c.(3730-3732)CGA>TGA	p.R1244*		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1244					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCCCCATCTCGCAGGCGCTTG	0.617												
ADAM17	6868	broad.mit.edu	37	2	9630357	9630357	+	Silent	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:9630357G>T	uc002qzu.2	-	19	2607	c.2424C>A	c.(2422-2424)TCC>TCA	p.S808S	IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Silent_p.S791S|ADAM17_uc010ewz.2_Silent_p.S151S	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	808	Cytoplasmic (Potential).				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GCAGTTTAAAGGAGGCAGCCT	0.443												
GREB1	9687	broad.mit.edu	37	2	11751001	11751001	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:11751001C>T	uc002rbk.1	+	18	3154	c.2854C>T	c.(2854-2856)CTG>TTG	p.L952L	GREB1_uc002rbo.1_Silent_p.L586L|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	952						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CATGGTCCTGCTGCGGGTGCC	0.667												
GREB1	9687	broad.mit.edu	37	2	11777870	11777870	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:11777870C>T	uc002rbk.1	+	31	5675	c.5375C>T	c.(5374-5376)CCG>CTG	p.P1792L	GREB1_uc002rbp.1_Missense_Mutation_p.P790L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1792						integral to membrane		p.P1792L(1)		ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCGGTCGTGCCGGCCCAGTAC	0.662												
NBAS	51594	broad.mit.edu	37	2	15468434	15468434	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:15468434C>T	uc002rcc.1	-	37	4376	c.4350G>A	c.(4348-4350)GGG>GGA	p.G1450G	NBAS_uc010exl.1_Silent_p.G522G|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1450										ovary(2)|liver(1)|skin(1)	4						CACATTTTTGCCCCTaaaaag	0.209												
SMC6	79677	broad.mit.edu	37	2	17877597	17877597	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:17877597T>C	uc002rco.2	-	22	2787	c.2491A>G	c.(2491-2493)AAA>GAA	p.K831E	SMC6_uc010exo.2_Missense_Mutation_p.K831E|SMC6_uc002rcn.2_Missense_Mutation_p.K831E|SMC6_uc002rcp.1_Missense_Mutation_p.K857E	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	831	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGTTTCTTTTTATTTAAGGTA	0.318												
MFSD2B	388931	broad.mit.edu	37	2	24246517	24246517	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:24246517A>G	uc002reo.1	+	12	1248	c.1234A>G	c.(1234-1236)ACC>GCC	p.T412A		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	412	Helical; (Potential).				transport	integral to membrane				ovary(2)	2						AGGCCTGGAGACCATCTTCTA	0.612												
HADHB	3032	broad.mit.edu	37	2	26502949	26502949	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:26502949A>G	uc002rgz.2	+	10	1150	c.899A>G	c.(898-900)TAC>TGC	p.Y300C	HADHB_uc010ykv.1_Missense_Mutation_p.Y278C|HADHB_uc010ykw.1_Missense_Mutation_p.Y285C|HADHB_uc002rha.2_Missense_Mutation_p.Y177C|HADHB_uc010ykx.1_Missense_Mutation_p.Y226C	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	300					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAAGCCCTACGGCACAGTG	0.383												
KCNK3	3777	broad.mit.edu	37	2	26950776	26950776	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:26950776C>T	uc002rhn.2	+	2	688	c.525C>T	c.(523-525)GCC>GCT	p.A175A		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	175	Helical; (Potential).				synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCGGCGCCGCCGCCTTCT	0.637												
NRBP1	29959	broad.mit.edu	37	2	27663726	27663726	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:27663726G>A	uc002rko.2	+	15	2080	c.1248G>A	c.(1246-1248)CAG>CAA	p.Q416Q	NRBP1_uc002rkq.2_Silent_p.Q415Q|NRBP1_uc002rkp.2_Silent_p.Q416Q|NRBP1_uc002rkr.2_Silent_p.Q207Q|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	416					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					AGCAGCCACAGCAGGAGGAGG	0.602												
NRBP1	29959	broad.mit.edu	37	2	27664014	27664014	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:27664014C>T	uc002rko.2	+	16	2182	c.1350C>T	c.(1348-1350)AAC>AAT	p.N450N	NRBP1_uc002rkq.2_Silent_p.N449N|NRBP1_uc002rkp.2_Silent_p.N450N|NRBP1_uc002rkr.2_Silent_p.N241N|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	450					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					TGCAGTGCAACATTGAGTCGG	0.532												
IFT172	26160	broad.mit.edu	37	2	27688653	27688653	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:27688653T>C	uc002rku.2	-	17	1840	c.1789A>G	c.(1789-1791)ATC>GTC	p.I597V		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	597	TPR 1.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CCAAACTCGATGAGGCCCTCA	0.547												
CRIM1	51232	broad.mit.edu	37	2	36668566	36668566	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:36668566C>T	uc002rpd.2	+	3	710	c.671C>T	c.(670-672)CCG>CTG	p.P224L		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	224	Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTCTGCCAGCCGGGAAACCTG	0.577												
EIF2AK2	5610	broad.mit.edu	37	2	37353552	37353552	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:37353552A>G	uc010ynh.1	-	11	1345	c.788T>C	c.(787-789)TTT>TCT	p.F263S	EIF2AK2_uc010fab.1_Intron|EIF2AK2_uc010yng.1_Missense_Mutation_p.F263S|EIF2AK2_uc010fac.2_Missense_Mutation_p.F263S|EIF2AK2_uc010fad.2_Missense_Mutation_p.F263S	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	263				Missing: Loss of activity.	evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				ATCCATGCCAAACCTTAAAGA	0.393												
TTC7A	57217	broad.mit.edu	37	2	47278950	47278950	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:47278950C>T	uc002rvo.2	+	18	2451	c.2083C>T	c.(2083-2085)CCC>TCC	p.P695S	TTC7A_uc002rvm.2_Missense_Mutation_p.P661S|TTC7A_uc010fbb.2_Missense_Mutation_p.P719S|TTC7A_uc010fbc.2_Missense_Mutation_p.P341S|TTC7A_uc002rvp.2_Missense_Mutation_p.P576S|TTC7A_uc002rvq.2_Missense_Mutation_p.P435S|TTC7A_uc002rvr.2_Missense_Mutation_p.P144S	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	695							binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCTGACTATGCCCTCTTCGGT	0.657												
BCL11A	53335	broad.mit.edu	37	2	60688523	60688523	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:60688523G>A	uc002sae.1	-	4	1752	c.1524C>T	c.(1522-1524)AGC>AGT	p.S508S	BCL11A_uc002sab.2_Silent_p.S508S|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.S177S|BCL11A_uc010ypj.1_Silent_p.S474S|BCL11A_uc002sad.1_Silent_p.S356S|BCL11A_uc002saf.1_Silent_p.S474S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	508	Glu-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCACCCTCTCGCTCTCCGTCA	0.463			T	IGH@	B-CLL							
CTNNA2	1496	broad.mit.edu	37	2	80136848	80136848	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:80136848G>A	uc010ysh.1	+	6	986	c.981G>A	c.(979-981)CGG>CGA	p.R327R	CTNNA2_uc010yse.1_Silent_p.R327R|CTNNA2_uc010ysf.1_Silent_p.R327R|CTNNA2_uc010ysg.1_Silent_p.R327R	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	327					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GAGACGACCGGCGCGAGAGGA	0.637												
POLR1A	25885	broad.mit.edu	37	2	86305045	86305045	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:86305045G>A	uc002sqs.2	-	11	1696	c.1317C>T	c.(1315-1317)TAC>TAT	p.Y439Y		NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	439				YA -> ST (in Ref. 1; AAC99959).	termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						AGCGCGCAGCGTAGTCCACTC	0.358												
ZAP70	7535	broad.mit.edu	37	2	98351799	98351799	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:98351799T>C	uc002syd.1	+	10	1376	c.1169T>C	c.(1168-1170)ATG>ACG	p.M390T	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.M280T|ZAP70_uc002syf.1_Missense_Mutation_p.M83T	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	390	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GCGCAGATCATGCACCAGCTG	0.652												
POU3F3	5455	broad.mit.edu	37	2	105472966	105472966	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:105472966G>A	uc010ywg.1	+	1	998	c.998G>A	c.(997-999)CGC>CAC	p.R333H		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	333	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						AAGCAGCGGCGCATCAAGCTG	0.652												
IL1F6	27179	broad.mit.edu	37	2	113765559	113765559	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:113765559A>G	uc010yxr.1	+	4	415	c.415A>G	c.(415-417)ATC>GTC	p.I139V		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	interleukin 1 family, member 6 (epsilon)	139					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding				0						CTGTCCTCTCATCCTTACCCA	0.512												
PRPF40A	55660	broad.mit.edu	37	2	153519623	153519623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:153519623G>A	uc002tyh.3	-	20	2174	c.2152C>T	c.(2152-2154)CGA>TGA	p.R718*	PRPF40A_uc002tyg.3_Nonsense_Mutation_p.R174*|PRPF40A_uc010zcd.1_Nonsense_Mutation_p.R669*	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	745	FF 5.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						GATTCTTTTCGTTTCATCTTC	0.338												
TANC1	85461	broad.mit.edu	37	2	160035383	160035383	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:160035383A>G	uc002uag.2	+	14	2493	c.2219A>G	c.(2218-2220)CAG>CGG	p.Q740R	TANC1_uc010fol.1_Missense_Mutation_p.Q634R|TANC1_uc010zcm.1_Missense_Mutation_p.Q732R|TANC1_uc010fom.1_Missense_Mutation_p.Q546R|TANC1_uc002uai.1_RNA	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	740						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						TATTTGCTTCAGTGCAACATG	0.552												
IFIH1	64135	broad.mit.edu	37	2	163128888	163128888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:163128888G>A	uc002uce.2	-	13	2686	c.2464C>T	c.(2464-2466)CGA>TGA	p.R822*		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	822	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						GCTCTGGCTCGACCACGGGCC	0.428												
FIGN	55137	broad.mit.edu	37	2	164466291	164466291	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:164466291C>T	uc002uck.1	-	3	2362	c.2051G>A	c.(2050-2052)CGC>CAC	p.R684H		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	684						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GCCTTCTGTGCGCTGGACGAG	0.522												
DYNC1I2	1781	broad.mit.edu	37	2	172563873	172563873	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:172563873C>T	uc002uha.1	+	5	486	c.321C>T	c.(319-321)GGC>GGT	p.G107G	DYNC1I2_uc002uhc.2_Silent_p.G101G|DYNC1I2_uc002uhb.1_Silent_p.G101G|DYNC1I2_uc010zds.1_Silent_p.G119G|DYNC1I2_uc002uhd.1_Silent_p.G101G|DYNC1I2_uc002uhe.1_Silent_p.G107G|DYNC1I2_uc002uhf.1_Silent_p.G101G|DYNC1I2_uc010zdt.1_Silent_p.G119G|DYNC1I2_uc002uhg.1_Silent_p.G22G	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	107					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.198)			CTGGAGATGGCGCCGTGGGAT	0.413												
SLC25A12	8604	broad.mit.edu	37	2	172647993	172647993	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:172647993C>T	uc002uhh.2	-	15	1642	c.1553G>A	c.(1552-1554)GGT>GAT	p.G518D	SLC25A12_uc010fqh.2_Missense_Mutation_p.G411D	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	518	Solcar 3.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAGATTTAAACCTCCCACGTG	0.378												
TTN	7273	broad.mit.edu	37	2	179440987	179440987	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:179440987G>A	uc010zfg.1	-	275	62392	c.62168C>T	c.(62167-62169)ACC>ATC	p.T20723I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T14418I|TTN_uc010zfi.1_Missense_Mutation_p.T14351I|TTN_uc010zfj.1_Missense_Mutation_p.T14226I|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21650							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)			GGTTCCTGTGGTATCTTTTAT	0.453												
DNAH7	56171	broad.mit.edu	37	2	196822106	196822106	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:196822106G>A	uc002utj.3	-	19	3058	c.2957C>T	c.(2956-2958)ACG>ATG	p.T986M		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	986	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ATACAGCCACGTGGCTTGGAC	0.493												
CDK15	65061	broad.mit.edu	37	2	202671472	202671472	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:202671472C>T	uc002uyt.2	+	1	134	c.85C>T	c.(85-87)CGG>TGG	p.R29W	CDK15_uc010ftm.2_Intron|CDK15_uc002uys.2_Intron|CDK15_uc010ftn.1_Intron|CDK15_uc010fto.1_Missense_Mutation_p.R29W	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	29							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	ACACAGCTGTCGGAGGAGTCA	0.507												
ADAM23	8745	broad.mit.edu	37	2	207413068	207413068	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:207413068G>T	uc002vbq.2	+	8	1080	c.857G>T	c.(856-858)AGA>ATA	p.R286I	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	286					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGAAGGAAGAGAGCAGTGAAT	0.413												
ADAM23	8745	broad.mit.edu	37	2	207459518	207459518	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:207459518G>A	uc002vbq.2	+	23	2359	c.2136G>A	c.(2134-2136)ACG>ACA	p.T712T	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	712	Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AAGATGGAACGCCATGTGGCC	0.428												
ABCA12	26154	broad.mit.edu	37	2	215809791	215809791	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:215809791C>T	uc002vew.2	-	49	7497	c.7277G>A	c.(7276-7278)CGG>CAG	p.R2426Q	ABCA12_uc002vev.2_Missense_Mutation_p.R2108Q|ABCA12_uc010zjn.1_Missense_Mutation_p.R1353Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2426	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAGAGGTGCCGTTTCGACTT	0.373												
ABCA12	26154	broad.mit.edu	37	2	215914482	215914482	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:215914482G>A	uc002vew.2	-	6	781	c.561C>T	c.(559-561)AGC>AGT	p.S187S	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	187					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCCTGAATAGCTGTCACATA	0.328												
IHH	3549	broad.mit.edu	37	2	219920419	219920419	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:219920419C>T	uc002vjo.1	-	3	746	c.746G>A	c.(745-747)CGC>CAC	p.R249H		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	249					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGAGGCTCGCGGTCCAGGAA	0.647												
KIAA1486	57624	broad.mit.edu	37	2	226447162	226447162	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:226447162C>T	uc002voe.2	+	4	1204	c.1029C>T	c.(1027-1029)CCC>CCT	p.P343P	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.P113P	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	343	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CCCCCGCCCCCGTGCATTGCT	0.632												
SP140	11262	broad.mit.edu	37	2	231150516	231150516	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:231150516C>T	uc002vql.2	+	17	1729	c.1614C>T	c.(1612-1614)AAC>AAT	p.N538N	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Silent_p.N424N|SP140_uc002vqm.2_Silent_p.N478N|SP140_uc010fxl.2_Silent_p.N511N	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	538					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAAGGCGAACGTGAATCTGA	0.448												
GPR55	9290	broad.mit.edu	37	2	231775308	231775308	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:231775308G>A	uc002vrg.2	-	2	563	c.370C>T	c.(370-372)CGT>TGT	p.R124C	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.R124C	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	124	Cytoplasmic (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGCGGGTAACGGATGGCCAAG	0.582												
ARL4C	10123	broad.mit.edu	37	2	235405084	235405084	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:235405084G>A	uc002vvn.2	-	1	610	c.147C>T	c.(145-147)ACC>ACT	p.T49T	ARL4C_uc002vvm.3_Silent_p.T49T	NM_005737	NP_005728	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	49					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			skin(1)	1		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		TGATCTTCTCGGTGTTGAAGC	0.612												
COL6A3	1293	broad.mit.edu	37	2	238280505	238280505	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:238280505G>A	uc002vwl.2	-	9	4440	c.4155C>T	c.(4153-4155)CCC>CCT	p.P1385P	COL6A3_uc002vwo.2_Silent_p.P1179P|COL6A3_uc010znj.1_Silent_p.P778P|COL6A3_uc002vwq.2_Silent_p.P1179P|COL6A3_uc002vwr.2_Silent_p.P978P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1385	VWFA 7.|Nonhelical region.				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)		ACACATATTCGGGGCTCAGCG	0.617												
ESPNL	339768	broad.mit.edu	37	2	239040289	239040289	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:239040289C>T	uc002vxq.3	+	9	3044	c.2934C>T	c.(2932-2934)AAC>AAT	p.N978N	ESPNL_uc010fyw.2_Silent_p.N674N	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	978										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCAGCTTCAACGGTGAGGACA	0.637												
HDAC4	9759	broad.mit.edu	37	2	240085512	240085512	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:240085512G>A	uc002vyk.3	-	6	1390	c.598C>T	c.(598-600)CGC>TGC	p.R200C	HDAC4_uc010fyz.1_Missense_Mutation_p.R195C|HDAC4_uc010zoa.1_Missense_Mutation_p.R195C|HDAC4_uc010fza.2_Missense_Mutation_p.R200C|HDAC4_uc010fyy.2_Missense_Mutation_p.R152C|HDAC4_uc010znz.1_Missense_Mutation_p.R83C	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	200	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TACCAGTAGCGAGGGTCGCTG	0.567												
GPR35	2859	broad.mit.edu	37	2	241570285	241570285	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:241570285G>A	uc002vzs.1	+	1	1491	c.916G>A	c.(916-918)GTG>ATG	p.V306M	GPR35_uc010fzh.1_Missense_Mutation_p.V337M|GPR35_uc010fzi.1_Missense_Mutation_p.V337M	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	306	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(2)|pancreas(1)	3		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CTCTCTGTGCGTGACCCTCGC	0.642												
PASK	23178	broad.mit.edu	37	2	242080005	242080005	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:242080005T>C	uc002wao.1	-	3	452	c.360A>G	c.(358-360)TCA>TCG	p.S120S	PASK_uc010zol.1_Intron|PASK_uc010zom.1_Silent_p.S120S|PASK_uc010fzl.1_Silent_p.S120S|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Silent_p.S120S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	120	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAAGCAGAGGTGAGGACCACC	0.612												
DEFB125	245938	broad.mit.edu	37	20	76838	76838	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:76838A>G	uc002wcw.2	+	2	251	c.251A>G	c.(250-252)GAT>GGT	p.D84G		NM_153325	NP_697020	Q8N687	DB125_HUMAN	defensin, beta 125 preproprotein	84					defense response to bacterium	extracellular region				ovary(1)|central_nervous_system(1)|skin(1)	3		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			GATTATAGTGATGTGGACTCT	0.368												
FASTKD5	60493	broad.mit.edu	37	20	3129630	3129630	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:3129630T>C	uc002whz.2	-	2	398	c.87A>G	c.(85-87)TCA>TCG	p.S29S	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	29					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						CATTCCAGTATGACACACTTC	0.463												
SIGLEC1	6614	broad.mit.edu	37	20	3678776	3678776	+	Silent	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:3678776G>T	uc002wja.2	-	8	1791	c.1791C>A	c.(1789-1791)CCC>CCA	p.P597P	SIGLEC1_uc002wiz.3_Silent_p.P597P	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	597	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GTTGTCGAGGGGGGTCTGCAG	0.637												
HAO1	54363	broad.mit.edu	37	20	7866403	7866403	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:7866403C>T	uc002wmw.1	-	6	946	c.922G>A	c.(922-924)GCC>ACC	p.A308T	HAO1_uc010gbu.2_Missense_Mutation_p.A308T	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	308	FMN hydroxy acid dehydrogenase.|FMN (By similarity).				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3						ACAGCCTTGGCGCCAAGAGCC	0.483												
SPTLC3	55304	broad.mit.edu	37	20	13053052	13053052	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:13053052C>T	uc002wod.1	+	3	741	c.452C>T	c.(451-453)ACG>ATG	p.T151M		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	151					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	TATAACTGGACGTTTAGGTGA	0.463												
RRBP1	6238	broad.mit.edu	37	20	17617341	17617341	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:17617341C>T	uc002wpv.1	-	7	1273	c.919G>A	c.(919-921)GGG>AGG	p.G307R	RRBP1_uc002wpu.2_Missense_Mutation_p.G81R|RRBP1_uc002wpw.1_Missense_Mutation_p.G307R|RRBP1_uc010gcl.1_Missense_Mutation_p.G81R|RRBP1_uc010gcm.1_5'UTR	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	740	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						TTGGCCTCCCCGGCTGCTGCT	0.622												
PAX1	5075	broad.mit.edu	37	20	21687400	21687400	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:21687400G>A	uc002wsj.2	+	2	665	c.611G>A	c.(610-612)GGC>GAC	p.G204D	PAX1_uc010zsl.1_Missense_Mutation_p.G204D|PAX1_uc010zsm.1_Missense_Mutation_p.G180D	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	204	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CTGGCCGACGGCGTCTGTGAC	0.627												
MYH7B	57644	broad.mit.edu	37	20	33572917	33572917	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:33572917G>A	uc002xbi.1	+	11	1008	c.916G>A	c.(916-918)GCG>ACG	p.A306T		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	264	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCTGGCATCCGCGGATATTGA	0.642												
FAM83C	128876	broad.mit.edu	37	20	33876355	33876355	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:33876355A>G	uc010zux.1	-	3	833	c.715T>C	c.(715-717)TAC>CAC	p.Y239H	FAM83C_uc002xcb.1_Missense_Mutation_p.Y63H	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	239										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTGCTGCAGTATGTGTCCCCA	0.607												
SPAG4	6676	broad.mit.edu	37	20	34206915	34206915	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:34206915C>T	uc002xdb.1	+	8	905	c.788C>T	c.(787-789)TCT>TTT	p.S263F	SPAG4_uc010zvi.1_Missense_Mutation_p.S186F	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	263					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCTTTGAGCTCTGTGGGTAAG	0.458												
BPI	671	broad.mit.edu	37	20	36962864	36962864	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:36962864T>C	uc002xib.2	+	13	1379	c.1317T>C	c.(1315-1317)ATT>ATC	p.I439I		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	439					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				TGAACTACATTGTACCCATTC	0.512												
JPH2	57158	broad.mit.edu	37	20	42788504	42788504	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:42788504C>T	uc002xli.1	-	2	1796	c.923G>A	c.(922-924)CGC>CAC	p.R308H		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	308	MORN 7.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCACTGGAGCGTTCGCTCAC	0.672												
R3HDML	140902	broad.mit.edu	37	20	42973914	42973914	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:42973914A>G	uc002xls.1	+	4	697	c.525A>G	c.(523-525)GCA>GCG	p.A175A		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	175						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TGGTGTGGGCATCCTCCAATC	0.587												
PABPC1L	80336	broad.mit.edu	37	20	43545420	43545420	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:43545420C>T	uc010ggv.1	+	3	493	c.411C>T	c.(409-411)TCC>TCT	p.S137S	PABPC1L_uc010zwq.1_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	137	RRM 2.						nucleotide binding|RNA binding			ovary(1)	1						AGCATGGCTCCCGGGGTTTCG	0.557												
PREX1	57580	broad.mit.edu	37	20	47269921	47269921	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:47269921C>T	uc002xtw.1	-	20	2347	c.2324G>A	c.(2323-2325)CGG>CAG	p.R775Q	PREX1_uc002xtv.1_Missense_Mutation_p.R72Q	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	775					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCGCCGACTCCGGAATGCCTG	0.592												
CSE1L	1434	broad.mit.edu	37	20	47688929	47688929	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:47688929G>A	uc002xty.2	+	9	1009	c.875G>A	c.(874-876)CGT>CAT	p.R292H	CSE1L_uc010zyg.1_Missense_Mutation_p.R75H|CSE1L_uc010ghx.2_Intron|CSE1L_uc010ghy.2_5'UTR|CSE1L_uc010zyh.1_5'Flank	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	292					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TACCTGCCTCGTTTTGTTACA	0.398												
KCNB1	3745	broad.mit.edu	37	20	47991257	47991257	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:47991257G>A	uc002xur.1	-	2	1004	c.840C>T	c.(838-840)ACC>ACT	p.T280T	KCNB1_uc002xus.1_Silent_p.T280T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	280	Helical; Name=Segment S3; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGTTGGATTCGGTGAGGAAAA	0.522												
MC3R	4159	broad.mit.edu	37	20	54824454	54824454	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:54824454C>T	uc002xxb.2	+	1	667	c.555C>T	c.(553-555)AGC>AGT	p.S185S		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	222	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			ACTCGGAGAGCAAAATGGTCA	0.567												
AURKA	6790	broad.mit.edu	37	20	54956591	54956591	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:54956591A>G	uc002xxd.1	-	8	1169	c.603T>C	c.(601-603)CAT>CAC	p.H201H	AURKA_uc002xxe.1_Silent_p.H201H|AURKA_uc002xxf.1_Silent_p.H201H|AURKA_uc002xxg.1_Silent_p.H201H|AURKA_uc002xxh.1_Silent_p.H201H|AURKA_uc002xxi.1_Silent_p.H201H|AURKA_uc002xxj.1_Silent_p.H201H|AURKA_uc002xxk.1_Silent_p.H201H|AURKA_uc010zzd.1_RNA	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	201	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)			TGGTAGCATCATGGAAATAAC	0.373												
C20orf43	51507	broad.mit.edu	37	20	55059239	55059239	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:55059239C>T	uc002xxt.2	+	5	578	c.471C>T	c.(469-471)TGC>TGT	p.C157C	C20orf43_uc010zzf.1_Silent_p.C187C|C20orf43_uc002xxu.2_Silent_p.C157C|C20orf43_uc002xxv.2_Silent_p.C157C	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	157										ovary(1)	1			Colorectal(105;0.202)			CGGAAGTTTGCCACACGGTGA	0.478												
CTSZ	1522	broad.mit.edu	37	20	57576650	57576650	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:57576650G>A	uc002yai.2	-	3	483	c.357C>T	c.(355-357)TCC>TCT	p.S119S	CTSZ_uc002yaj.3_Silent_p.S119S	NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	cathepsin Z preproprotein	119					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			kidney(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			CGTTCTGCACGGACAGGAGGG	0.602												
ZBTB46	140685	broad.mit.edu	37	20	62421541	62421541	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:62421541G>A	uc002ygv.1	-	2	771	c.570C>T	c.(568-570)CAC>CAT	p.H190H	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCCCTCCGTCGTGACAGCTGG	0.622												
UCKL1	54963	broad.mit.edu	37	20	62572046	62572046	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:62572046G>A	uc010gkn.2	-	12	1246	c.1203C>T	c.(1201-1203)CGC>CGT	p.R401R	UCKL1_uc002yhj.2_Silent_p.R44R|UCKL1_uc011abm.1_Silent_p.R386R|UCKL1_uc011abn.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	401					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTTCACCGGCGCGCAGAATGG	0.682												
KRTAP8-1	337879	broad.mit.edu	37	21	32185383	32185383	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:32185383G>A	uc002you.2	-	1	188	c.156C>T	c.(154-156)TTC>TTT	p.F52F		NM_175857	NP_787053	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	52	12 X 2 AA repeats of G-[YCGS].					intermediate filament					0						TCCTGTAGCCGAAAGCCCCAC	0.562												
SFRS15	57466	broad.mit.edu	37	21	33073415	33073415	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:33073415T>C	uc002ypd.2	-	7	1096	c.670A>G	c.(670-672)ATG>GTG	p.M224V	SFRS15_uc002ype.2_Missense_Mutation_p.M224V|SFRS15_uc010glu.2_Missense_Mutation_p.M209V|SFRS15_uc002ypf.1_5'UTR|SFRS15_uc002ypg.2_Missense_Mutation_p.M224V	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	224						nucleus	nucleotide binding|RNA binding				0						ACCTGAGCCATCACAGCATTG	0.448												
MRAP	56246	broad.mit.edu	37	21	33684248	33684248	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:33684248G>A	uc002ypj.2	+	5	647	c.460G>A	c.(460-462)GTC>ATC	p.V154I	MRAP_uc002ypk.2_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.1_Missense_Mutation_p.V95I|MRAP_uc002ypl.2_Missense_Mutation_p.V154I	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	154	Extracellular (Potential).				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding				0						GGGTCCCCTCGTCAGGAGCAA	0.602												
GART	2618	broad.mit.edu	37	21	34907049	34907049	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:34907049C>T	uc002yrx.2	-	4	387	c.252G>A	c.(250-252)GGG>GGA	p.G84G	GART_uc002yrz.2_Silent_p.G84G|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Silent_p.G84G|GART_uc002ysa.2_Silent_p.G84G	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	84					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	ACCTCAGGTTCCCAACAATCC	0.473												
TTC3	7267	broad.mit.edu	37	21	38497038	38497038	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:38497038T>C	uc002yvz.2	+	14	1334	c.1229T>C	c.(1228-1230)CTA>CCA	p.L410P	TTC3_uc011aee.1_Missense_Mutation_p.L100P|TTC3_uc002ywa.2_Missense_Mutation_p.L410P|TTC3_uc002ywb.2_Missense_Mutation_p.L410P|TTC3_uc010gnf.2_Missense_Mutation_p.L175P|TTC3_uc002ywc.2_Missense_Mutation_p.L100P|TTC3_uc011aed.1_Missense_Mutation_p.L100P|TTC3_uc010gne.1_Missense_Mutation_p.L410P	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	410					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				AATCAGAATCTAAAGGTAAGC	0.323												
TTC3	7267	broad.mit.edu	37	21	38529174	38529174	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:38529174G>A	uc002yvz.2	+	28	3063	c.2958G>A	c.(2956-2958)TTG>TTA	p.L986L	TTC3_uc011aee.1_Silent_p.L676L|TTC3_uc002ywa.2_Silent_p.L986L|TTC3_uc002ywb.2_Silent_p.L986L|TTC3_uc010gnf.2_Silent_p.L751L|TTC3_uc002ywc.2_Silent_p.L676L|TTC3_uc002ywd.1_Silent_p.L50L	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	986					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				TCCCAGCATTGCATAGTGCTT	0.378												
UMODL1	89766	broad.mit.edu	37	21	43519199	43519199	+	Silent	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:43519199G>T	uc002zaf.1	+	7	1095	c.1095G>T	c.(1093-1095)GTG>GTT	p.V365V	UMODL1_uc002zad.1_Silent_p.V293V|UMODL1_uc002zae.1_Silent_p.V293V|UMODL1_uc002zag.1_Silent_p.V365V|UMODL1_uc010gow.1_Silent_p.V157V|UMODL1_uc002zai.1_Silent_p.V16V|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Silent_p.V16V|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Silent_p.V110V	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	365	Extracellular (Potential).|Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CACTGGCAGTGGCTGGGCTGG	0.597												
COL6A2	1292	broad.mit.edu	37	21	47536294	47536294	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:47536294G>A	uc002zia.1	+	8	986	c.904G>A	c.(904-906)GTT>ATT	p.V302I	COL6A2_uc002zhy.1_Missense_Mutation_p.V302I|COL6A2_uc002zhz.1_Missense_Mutation_p.V302I|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	302	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCCCAGGGCGTTCCTGGCTT	0.667												
COL6A2	1292	broad.mit.edu	37	21	47546072	47546072	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:47546072G>A	uc002zia.1	+	26	2425	c.2343G>A	c.(2341-2343)CAG>CAA	p.Q781Q	COL6A2_uc002zhy.1_Silent_p.Q781Q|COL6A2_uc002zhz.1_Silent_p.Q781Q|COL6A2_uc002zib.1_Silent_p.Q187Q|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	781	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACAAGCCACAGCAGGTGCGCA	0.622												
UFD1L	7353	broad.mit.edu	37	22	19438229	19438229	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:19438229T>C	uc002zpm.2	-	12	1018	c.888A>G	c.(886-888)GAA>GAG	p.E296E	UFD1L_uc002zpo.2_3'UTR|UFD1L_uc011agy.1_3'UTR|UFD1L_uc002zpp.2_3'UTR	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	296					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					ATGACTGTCCTTCTCCAGAGA	0.398												
CLDN5	7122	broad.mit.edu	37	22	19511360	19511360	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:19511360G>A	uc002zpu.2	-	2	889	c.674C>T	c.(673-675)GCC>GTC	p.A225V	CLDN5_uc010grr.2_Missense_Mutation_p.A225V	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	140	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					GACAATGTTGGCGAACCAGCA	0.687												
RTN4R	65078	broad.mit.edu	37	22	20230610	20230610	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:20230610G>A	uc002zrv.2	-	2	247	c.46C>T	c.(46-48)CTG>TTG	p.L16L	RTN4R_uc002zru.2_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	16					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					TGCAGCCACAGCACCCATGCC	0.637												
CCDC116	164592	broad.mit.edu	37	22	21988981	21988981	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:21988981T>C	uc002zve.2	+	4	722	c.629T>C	c.(628-630)CTC>CCC	p.L210P	CCDC116_uc011aih.1_Missense_Mutation_p.L210P	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	210										ovary(1)|skin(1)	2	Colorectal(54;0.105)					CAGAAAGGCCTCAGTCAGTCC	0.607												
CABIN1	23523	broad.mit.edu	37	22	24560426	24560426	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:24560426T>C	uc002zzi.1	+	30	4932	c.4805T>C	c.(4804-4806)ATG>ACG	p.M1602T	CABIN1_uc002zzj.1_Missense_Mutation_p.M1523T|CABIN1_uc002zzl.1_Missense_Mutation_p.M1602T|CABIN1_uc002zzm.1_Missense_Mutation_p.M27T	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1602					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GCCTGGCACATGAACCGCTCC	0.647												
HPS4	89781	broad.mit.edu	37	22	26860141	26860141	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:26860141C>T	uc003acl.2	-	11	2114	c.1455G>A	c.(1453-1455)ACG>ACA	p.T485T	HPS4_uc003aci.2_Silent_p.T480T|HPS4_uc003acj.2_Silent_p.T349T|HPS4_uc003ack.2_Silent_p.T276T|HPS4_uc003acn.2_Silent_p.T331T|HPS4_uc010gvd.1_Silent_p.T503T|HPS4_uc003ach.2_Silent_p.T220T	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	485					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						CTTGTTCCCCCGTGGGAAGCT	0.582									Hermansky-Pudlak_syndrome			
TFIP11	24144	broad.mit.edu	37	22	26890185	26890185	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:26890185T>C	uc003acr.2	-	13	2452	c.2078A>G	c.(2077-2079)CAA>CGA	p.Q693R	TFIP11_uc003acq.2_Missense_Mutation_p.Q52R|TFIP11_uc003acs.2_Missense_Mutation_p.Q693R|TFIP11_uc003act.2_Missense_Mutation_p.Q693R|uc003acu.1_RNA	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	693					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						TGCCAGCACTTGGTCTGAGAA	0.473												
CHEK2	11200	broad.mit.edu	37	22	29090060	29090060	+	Missense_Mutation	SNP	C	C	T	rs121908706		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:29090060C>T	uc003adu.1	-	13	1493	c.1421G>A	c.(1420-1422)CGT>CAT	p.R474H	CHEK2_uc003ads.1_Missense_Mutation_p.R253H|CHEK2_uc010gvh.1_Missense_Mutation_p.R383H|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.R517H|CHEK2_uc003adv.1_Missense_Mutation_p.R445H|CHEK2_uc003adw.1_Missense_Mutation_p.R474H|CHEK2_uc003adx.1_Missense_Mutation_p.R253H|CHEK2_uc003ady.1_Missense_Mutation_p.R463H|CHEK2_uc003adz.1_Missense_Mutation_p.R278H	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	474	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						TGTCGTAAAACGTGCCTTTGG	0.458			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			
EMID1	129080	broad.mit.edu	37	22	29621174	29621174	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:29621174G>A	uc003aen.2	+	4	441	c.366G>A	c.(364-366)CGG>CGA	p.R122R	EMID1_uc003aem.2_Silent_p.R124R|EMID1_uc003aeo.2_Silent_p.R124R|EMID1_uc003aep.2_Silent_p.R124R	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	EMI domain containing 1	122						collagen					0						GTACCATGCGGCGGATGGCGC	0.642												
PATZ1	23598	broad.mit.edu	37	22	31723054	31723054	+	Silent	SNP	G	G	A	rs139600326	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:31723054G>A	uc003akq.2	-	5	2548	c.1887C>T	c.(1885-1887)GTC>GTT	p.V629V	PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Silent_p.V583V	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	629					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						CGAGAGCCCGGACATGCACCT	0.562												
SLC5A4	6527	broad.mit.edu	37	22	32616985	32616985	+	Missense_Mutation	SNP	G	G	A	rs139861447	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:32616985G>A	uc003ami.2	-	14	1692	c.1690C>T	c.(1690-1692)CGG>TGG	p.R564W		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	564	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						GTACTGTTCCGAAGAACCCAG	0.398												
RFPL3	10738	broad.mit.edu	37	22	32754283	32754283	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:32754283T>C	uc003amj.2	+	1	430	c.225T>C	c.(223-225)GAT>GAC	p.D75D	RFPL3_uc010gwn.2_Silent_p.D46D	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN	ret finger protein-like 3 isoform 1	75	RING-type.						zinc ion binding			ovary(1)	1						ATGGGGAGGATCTGCTTTGCT	0.532												
IL2RB	3560	broad.mit.edu	37	22	37531453	37531453	+	Missense_Mutation	SNP	C	C	T	rs141482021		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:37531453C>T	uc003aqv.1	-	8	864	c.733G>A	c.(733-735)GGC>AGC	p.G245S		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	245	Helical; (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGGAGGTGGCCGAGCCACGGA	0.592												
MICALL1	85377	broad.mit.edu	37	22	38322025	38322025	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:38322025G>A	uc003aui.2	+	8	1524	c.1440G>A	c.(1438-1440)CCG>CCA	p.P480P		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	480	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					GCCCTGCCCCGCGCGCACCCA	0.706												
KCNJ4	3761	broad.mit.edu	37	22	38823343	38823343	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:38823343G>A	uc003avs.1	-	2	892	c.795C>T	c.(793-795)ATC>ATT	p.I265I	KCNJ4_uc003avt.1_Silent_p.I265I	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	265	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TGTCCTCGTCGATCTCGTGGA	0.617												
PDGFB	5155	broad.mit.edu	37	22	39627801	39627801	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:39627801G>A	uc003axf.2	-	4	1271	c.282C>T	c.(280-282)ATC>ATT	p.I94I	PDGFB_uc003axe.2_Silent_p.I79I	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	94					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	TGCACTCGGCGATCATGGCCG	0.647			T	COL1A1	DFSP							
MCHR1	2847	broad.mit.edu	37	22	41077613	41077613	+	Missense_Mutation	SNP	G	G	A	rs45439291	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:41077613G>A	uc003ayz.2	+	2	1218	c.950G>A	c.(949-951)CGG>CAG	p.R317Q	MCHR1_uc003aza.2_Missense_Mutation_p.R206Q|uc003azb.1_RNA	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	317	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						CGCAGCATCCGGCTGCGGACA	0.612												
ZC3H7B	23264	broad.mit.edu	37	22	41753226	41753226	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:41753226C>T	uc003azw.2	+	23	2943	c.2727C>T	c.(2725-2727)TGC>TGT	p.C909C	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	925	C3H1-type 4.|Potential.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						AGTGCCGCTGCGCCCATGGAC	0.662												
SCUBE1	80274	broad.mit.edu	37	22	43623396	43623396	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:43623396G>A	uc003bdt.1	-	10	1279	c.1191C>T	c.(1189-1191)AAC>AAT	p.N397N		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	397	EGF-like 9; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				AATCCTTCCCGTTCCAGTGGA	0.662												
EFCAB6	64800	broad.mit.edu	37	22	44063056	44063056	+	Silent	SNP	C	C	T	rs150612043		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:44063056C>T	uc003bdy.1	-	17	2126	c.1911G>A	c.(1909-1911)CCG>CCA	p.P637P	EFCAB6_uc003bdz.1_Silent_p.P485P|EFCAB6_uc010gzi.1_Silent_p.P485P|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	637	EF-hand 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TTTTGAATGCCGGGTCCTGCT	0.403												
CELSR1	9620	broad.mit.edu	37	22	46932131	46932131	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:46932131G>A	uc003bhw.1	-	1	937	c.937C>T	c.(937-939)CGC>TGC	p.R313C		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	313	Extracellular (Potential).|Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTGGTCTCGCGGTCCAGTACG	0.627												
BRD1	23774	broad.mit.edu	37	22	50192691	50192691	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:50192691C>T	uc003biv.2	-	3	2088	c.1601G>A	c.(1600-1602)CGC>CAC	p.R534H	BRD1_uc011arf.1_Missense_Mutation_p.R129H|BRD1_uc011arg.1_Missense_Mutation_p.R588H|BRD1_uc011arh.1_Missense_Mutation_p.R534H|BRD1_uc003biu.3_Missense_Mutation_p.R534H	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	534					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGGCGAGCGCGCTCCAGGTC	0.622												
SAPS2	9701	broad.mit.edu	37	22	50882340	50882340	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:50882340G>A	uc003blb.1	+	24	3068	c.2646G>A	c.(2644-2646)GCG>GCA	p.A882A	SAPS2_uc003bky.1_Silent_p.A849A|SAPS2_uc003bkz.1_Silent_p.A848A|SAPS2_uc003blc.2_Silent_p.A875A|SAPS2_uc003bla.1_Silent_p.A849A|SAPS2_uc003bld.1_Silent_p.A408A	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	882						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		CCTGCCCCGCGCCAAAGGAAG	0.677												
CPT1B	1375	broad.mit.edu	37	22	51012809	51012809	+	Missense_Mutation	SNP	T	T	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:51012809T>G	uc003bmk.3	-	8	1087	c.925A>C	c.(925-927)ATG>CTG	p.M309L	CPT1B_uc003bml.2_Missense_Mutation_p.M309L|CPT1B_uc003bmm.2_Missense_Mutation_p.M309L|CPT1B_uc003bmo.2_Missense_Mutation_p.M309L|CPT1B_uc011asa.1_Missense_Mutation_p.M275L|CPT1B_uc003bmn.2_Missense_Mutation_p.M309L|CPT1B_uc011asb.1_Missense_Mutation_p.M309L|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.M106L	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	309	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		ATCCTCTCCATCTGGTAGGAG	0.612												
SHANK3	85358	broad.mit.edu	37	22	51160556	51160556	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:51160556C>T	uc003bne.1	+	22	4343	c.4343C>T	c.(4342-4344)CCG>CTG	p.P1448L	SHANK3_uc003bnf.1_Missense_Mutation_p.P895L|SHANK3_uc010hbg.1_Missense_Mutation_p.P630L	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1448										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TTCAGGGACCCGCTGCTGAAG	0.682												
AZI2	64343	broad.mit.edu	37	3	28382055	28382055	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:28382055A>G	uc003ceb.2	-	2	586	c.54T>C	c.(52-54)CAT>CAC	p.H18H	AZI2_uc003cec.2_5'UTR|AZI2_uc003ced.2_Silent_p.H18H|AZI2_uc003cee.3_Silent_p.H18H|AZI2_uc003ceg.2_Silent_p.H18H|AZI2_uc011axd.1_Silent_p.H18H|AZI2_uc003cef.2_Silent_p.H18H	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2 isoform a	18						mitochondrion|plasma membrane				ovary(2)	2						TATCTCTCTTATGGGCTTTTT	0.358												
VILL	50853	broad.mit.edu	37	3	38039623	38039623	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:38039623G>A	uc003chj.2	+	8	1093	c.807G>A	c.(805-807)GCG>GCA	p.A269A	VILL_uc003chk.1_Silent_p.A269A|VILL_uc003chl.2_Silent_p.A269A|VILL_uc010hgu.2_Silent_p.A99A	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	269	Gelsolin-like 3.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGTTGGCGACCCCCCCAC	0.637												
DLEC1	9940	broad.mit.edu	37	3	38159361	38159361	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:38159361A>G	uc003cho.1	+	33	4571	c.4550A>G	c.(4549-4551)TAC>TGC	p.Y1517C	DLEC1_uc003chp.1_Missense_Mutation_p.Y1517C|DLEC1_uc010hgv.1_Missense_Mutation_p.Y1520C|DLEC1_uc003chr.1_Missense_Mutation_p.Y588C|DLEC1_uc003chs.1_Missense_Mutation_p.Y74C	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1517					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATCCCACACTACTTCCGGCTT	0.597											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DLEC1	9940	broad.mit.edu	37	3	38163206	38163206	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:38163206C>T	uc003cho.1	+	35	4975	c.4954C>T	c.(4954-4956)CAG>TAG	p.Q1652*	DLEC1_uc003chp.1_Nonsense_Mutation_p.Q1652*|DLEC1_uc010hgv.1_Nonsense_Mutation_p.Q1655*|DLEC1_uc003chr.1_Nonsense_Mutation_p.Q723*|DLEC1_uc003chs.1_Nonsense_Mutation_p.Q209*	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1652					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGTGAGCCAGCAGCGAGTCCG	0.632												
XIRP1	165904	broad.mit.edu	37	3	39227496	39227496	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:39227496G>A	uc003cjk.1	-	2	3662	c.3441C>T	c.(3439-3441)CCC>CCT	p.P1147P	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1147							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGGTCCTCACGGGATGAGCGG	0.622												
KLHL18	23276	broad.mit.edu	37	3	47378111	47378111	+	Missense_Mutation	SNP	G	G	A	rs149811108		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:47378111G>A	uc003crd.2	+	7	1111	c.985G>A	c.(985-987)GTT>ATT	p.V329I	KLHL18_uc003crc.2_Missense_Mutation_p.V329I|KLHL18_uc011bav.1_Missense_Mutation_p.V217I|KLHL18_uc010hjq.1_Missense_Mutation_p.V185I	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	329	Kelch 1.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCGCAGCCGCGTTGGCGTGGC	0.567												
CELSR3	1951	broad.mit.edu	37	3	48698477	48698477	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:48698477C>T	uc003cul.2	-	1	1872	c.1591G>A	c.(1591-1593)GTA>ATA	p.V531I	CELSR3_uc003cuf.1_Missense_Mutation_p.V601I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	531	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTTATGTGTACGCGCACAGTG	0.642												
ARIH2	10425	broad.mit.edu	37	3	49008080	49008080	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:49008080G>A	uc003cvb.2	+	8	1025	c.713G>A	c.(712-714)CGG>CAG	p.R238Q	ARIH2_uc003cvc.2_Missense_Mutation_p.R238Q|ARIH2_uc003cvf.2_Missense_Mutation_p.R156Q|ARIH2_uc010hkl.2_Missense_Mutation_p.R238Q	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	238	IBR-type.				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ATGGTTATTCGGGTACAGGAG	0.547												
BSN	8927	broad.mit.edu	37	3	49690307	49690307	+	Silent	SNP	G	G	A	rs139466364		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:49690307G>A	uc003cxe.3	+	5	3432	c.3318G>A	c.(3316-3318)ACG>ACA	p.T1106T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1106					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTCCCCGACGGAGGAGCTGA	0.647												
RAD54L2	23132	broad.mit.edu	37	3	51690036	51690036	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:51690036G>A	uc011bdt.1	+	19	3201	c.3076G>A	c.(3076-3078)GTG>ATG	p.V1026M	RAD54L2_uc003dbh.2_Missense_Mutation_p.V615M|RAD54L2_uc011bdu.1_Missense_Mutation_p.V720M|RAD54L2_uc003dbj.2_Missense_Mutation_p.V352M	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1026						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGTTCGTCCTGTGCAGTCCAC	0.507												
RAD54L2	23132	broad.mit.edu	37	3	51696526	51696526	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:51696526C>T	uc011bdt.1	+	22	3619	c.3494C>T	c.(3493-3495)GCC>GTC	p.A1165V	RAD54L2_uc003dbh.2_Missense_Mutation_p.A754V|RAD54L2_uc011bdu.1_Missense_Mutation_p.A859V|RAD54L2_uc003dbj.2_Missense_Mutation_p.A491V	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1165						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GAGGGGCTGGCCAGGCCCGTC	0.607												
WDR82	80335	broad.mit.edu	37	3	52292564	52292564	+	Silent	SNP	C	C	T	rs141471824	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:52292564C>T	uc003ddl.2	-	8	1182	c.900G>A	c.(898-900)GCG>GCA	p.A300A	WDR82_uc003ddk.2_Silent_p.A225A	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	300	WD 6.				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding				0				BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGTTGGAACACGCACTGGCAA	0.493												
PRICKLE2	166336	broad.mit.edu	37	3	64133273	64133273	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:64133273A>G	uc003dmf.2	-	7	1479	c.893T>C	c.(892-894)CTC>CCC	p.L298P		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	298	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTGCTTCGGGAGGAATGGCCG	0.582												
FRMD4B	23150	broad.mit.edu	37	3	69230203	69230203	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:69230203G>A	uc003dnv.2	-	21	2988	c.2698C>T	c.(2698-2700)CGT>TGT	p.R900C	FRMD4B_uc003dnw.2_RNA|FRMD4B_uc003dnu.2_Missense_Mutation_p.R552C|FRMD4B_uc011bga.1_Missense_Mutation_p.R744C	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	900						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TACCAGCCACGCAAGTGCTCG	0.572												
ROBO2	6092	broad.mit.edu	37	3	77671492	77671492	+	Silent	SNP	C	C	T	rs2272164		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:77671492C>T	uc003dpy.3	+	23	4312	c.3669C>T	c.(3667-3669)GAC>GAT	p.D1223D	ROBO2_uc003dpz.2_Silent_p.D1227D|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.D1227D	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1223	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGCCGACGACGAAGAGGAAG	0.502												
CGGBP1	8545	broad.mit.edu	37	3	88105087	88105087	+	Missense_Mutation	SNP	G	G	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:88105087G>C	uc003dqs.2	-	4	552	c.40C>G	c.(40-42)CGT>GGT	p.R14G	CGGBP1_uc003dqt.2_Missense_Mutation_p.R14G|CGGBP1_uc003dqu.2_Missense_Mutation_p.R14G	NM_001008390	NP_001008391	Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding				0		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		GTCTTAGAACGGTTTCGAGCA	0.413												
TMPRSS7	344805	broad.mit.edu	37	3	111795816	111795816	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:111795816C>T	uc010hqb.2	+	14	1841	c.1671C>T	c.(1669-1671)CAC>CAT	p.H557H	TMPRSS7_uc011bhr.1_Silent_p.H412H	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	683	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						TTGTGGTCCACGAGTACTATA	0.478												
CCDC80	151887	broad.mit.edu	37	3	112358275	112358275	+	Missense_Mutation	SNP	A	A	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:112358275A>C	uc003dzf.2	-	2	696	c.478T>G	c.(478-480)TCG>GCG	p.S160A	CCDC80_uc011bhv.1_Missense_Mutation_p.S160A|CCDC80_uc003dzg.2_Missense_Mutation_p.S160A|CCDC80_uc003dzh.1_Missense_Mutation_p.S160A	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	160										ovary(2)	2						TAGCCTTCCGAGGCATGAGGG	0.557												
BOC	91653	broad.mit.edu	37	3	112969433	112969433	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:112969433G>A	uc003dzx.2	+	4	750	c.129G>A	c.(127-129)GCG>GCA	p.A43A	BOC_uc010hqi.2_Silent_p.A43A|BOC_uc003dzy.2_Silent_p.A43A|BOC_uc003dzz.2_Silent_p.A43A|BOC_uc003dzw.1_Silent_p.A43A|BOC_uc003eaa.1_Silent_p.A43A	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	43	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			TCCAGCCTGCGTCCACCGTCC	0.552												
KIAA2018	205717	broad.mit.edu	37	3	113379374	113379374	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:113379374A>G	uc003eam.2	-	7	1566	c.1155T>C	c.(1153-1155)CCT>CCC	p.P385P	KIAA2018_uc003eal.2_Silent_p.P329P	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	385					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						GAGTGCTTATAGGAATGGTGG	0.428												
PLXNA1	5361	broad.mit.edu	37	3	126730836	126730836	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:126730836C>T	uc003ejg.2	+	9	2083	c.2079C>T	c.(2077-2079)TAC>TAT	p.Y693Y		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	716	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CGCAGATCTACGTGCCAGTGG	0.617												
EEFSEC	60678	broad.mit.edu	37	3	128060255	128060255	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:128060255A>G	uc003eki.2	+	5	1004	c.966A>G	c.(964-966)ATA>ATG	p.I322M	EEFSEC_uc003ekj.2_Missense_Mutation_p.I267M	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	322						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						TGGAAAAGATACCGTATTTCC	0.582												
PIK3R4	30849	broad.mit.edu	37	3	130447382	130447382	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:130447382A>G	uc003enj.2	-	6	2313	c.1732T>C	c.(1732-1734)TTG>CTG	p.L578L		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	578	HEAT 3.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						ATGTGGGACAACAAAACATCG	0.353												
DZIP1L	199221	broad.mit.edu	37	3	137822357	137822357	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:137822357G>T	uc003erq.2	-	2	820	c.457C>A	c.(457-459)CTG>ATG	p.L153M	DZIP1L_uc003err.1_Missense_Mutation_p.L153M	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	153						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						AGCTGCTGCAGGGTGCTGATC	0.662												
PRR23B	389151	broad.mit.edu	37	3	138738987	138738987	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:138738987C>T	uc003esy.1	-	1	782	c.517G>A	c.(517-519)GGC>AGC	p.G173S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	173										breast(1)	1						GCGGCTGAGCCGGTTGGGGAG	0.652												
ATP1B3	483	broad.mit.edu	37	3	141632589	141632589	+	Missense_Mutation	SNP	A	A	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:141632589A>T	uc003eug.1	+	4	616	c.442A>T	c.(442-444)ATT>TTT	p.I148F	ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.I134F	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Na+/K+ -ATPase beta 3 subunit	148	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity				0						TCAGTTTCCTATTTCATTACT	0.378												
ATR	545	broad.mit.edu	37	3	142266679	142266679	+	Missense_Mutation	SNP	C	C	T	rs146504354		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:142266679C>T	uc003eux.3	-	16	3367	c.3245G>A	c.(3244-3246)CGT>CAT	p.R1082H		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1082					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TTCTCCAATACGCAGCAATAA	0.373								Other_conserved_DNA_damage_response_genes				
PLS1	5357	broad.mit.edu	37	3	142388367	142388367	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:142388367G>A	uc010huv.2	+	3	365	c.206G>A	c.(205-207)GGC>GAC	p.G69D	PLS1_uc003euz.2_Missense_Mutation_p.G69D|PLS1_uc003eva.2_Missense_Mutation_p.G69D	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN	plastin 1	69	2 (Potential).|EF-hand 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(1)	1						AACAAAGATGGCAAAATCAGT	0.418												
TRPC1	7220	broad.mit.edu	37	3	142524988	142524988	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:142524988C>T	uc003evc.2	+	13	2429	c.2293C>T	c.(2293-2295)CGC>TGC	p.R765C	TRPC1_uc003evb.2_Missense_Mutation_p.R731C	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	765					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						AAACGAACTGCGCCAAGATCT	0.373												
TRPC1	7220	broad.mit.edu	37	3	142525010	142525010	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:142525010G>A	uc003evc.2	+	13	2451	c.2315G>A	c.(2314-2316)CGA>CAA	p.R772Q	TRPC1_uc003evb.2_Missense_Mutation_p.R738Q	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	772					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						TCAAAATTCCGAAATGAAATA	0.363												
ZIC4	84107	broad.mit.edu	37	3	147113919	147113919	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:147113919G>A	uc003ewd.1	-	3	681	c.408C>T	c.(406-408)GAC>GAT	p.D136D	ZIC4_uc003ewc.1_Silent_p.D66D|ZIC4_uc011bno.1_Silent_p.D186D	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	136	C2H2-type 1; atypical.					nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						TCGCGGTGCCGTCGGCCGCCA	0.657												
MED12L	116931	broad.mit.edu	37	3	151105932	151105932	+	Missense_Mutation	SNP	G	G	A	rs149611856		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:151105932G>A	uc003eyp.2	+	35	5356	c.5318G>A	c.(5317-5319)CGC>CAC	p.R1773H	MED12L_uc011bnz.1_Missense_Mutation_p.R1633H|MED12L_uc003eyy.1_Missense_Mutation_p.R936H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1773					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAAGGAAGCGCAAGACGAAA	0.428												
NCEH1	57552	broad.mit.edu	37	3	172351525	172351525	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:172351525G>A	uc011bpx.1	-	5	1225	c.1087C>T	c.(1087-1089)CGC>TGC	p.R363C	NCEH1_uc003fig.2_Missense_Mutation_p.R355C|NCEH1_uc011bpw.1_Missense_Mutation_p.R190C|NCEH1_uc011bpy.1_Missense_Mutation_p.R190C	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN	arylacetamide deacetylase-like 1 isoform a	323	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity				0						GGGGCGGAGCGGGCATCCAGC	0.542												
PEX5L	51555	broad.mit.edu	37	3	179537729	179537729	+	Missense_Mutation	SNP	T	T	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:179537729T>G	uc003fki.1	-	9	988	c.858A>C	c.(856-858)GAA>GAC	p.E286D	PEX5L_uc011bqd.1_Missense_Mutation_p.E243D|PEX5L_uc011bqe.1_Missense_Mutation_p.E94D|PEX5L_uc011bqf.1_Missense_Mutation_p.E178D|PEX5L_uc003fkj.1_Missense_Mutation_p.E251D|PEX5L_uc010hxd.1_Missense_Mutation_p.E284D|PEX5L_uc011bqg.1_Missense_Mutation_p.E262D|PEX5L_uc011bqh.1_Missense_Mutation_p.E227D	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	286					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTTCTTCCCATTCTGCTTGCA	0.428												
HTR3E	285242	broad.mit.edu	37	3	183824457	183824457	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:183824457C>T	uc010hxq.2	+	9	1813	c.1347C>T	c.(1345-1347)ACC>ACT	p.T449T	HTR3E_uc003fml.3_Silent_p.T434T|HTR3E_uc003fmm.2_Silent_p.T464T|HTR3E_uc010hxr.2_Silent_p.T475T|HTR3E_uc003fmn.2_Silent_p.T449T	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	449	Helical; Name=4; (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTATCATCACCGTCATATGCC	0.582												
ECE2	9718	broad.mit.edu	37	3	183994720	183994720	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:183994720G>A	uc003fni.3	+	3	559	c.521G>A	c.(520-522)CGC>CAC	p.R174H	ECE2_uc011brg.1_Missense_Mutation_p.R102H|ECE2_uc011brh.1_Missense_Mutation_p.R27H|ECE2_uc003fnl.3_Missense_Mutation_p.R102H|ECE2_uc003fnm.3_Missense_Mutation_p.R56H|ECE2_uc003fnk.3_Missense_Mutation_p.R27H|ECE2_uc011bri.1_Missense_Mutation_p.R89H|ECE2_uc010hxv.2_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	174	Cytoplasmic (Potential).				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTAGGCTCACGCACGCAGCTG	0.592												
BCL6	604	broad.mit.edu	37	3	187442794	187442794	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:187442794G>A	uc003frp.3	-	9	2369	c.1912C>T	c.(1912-1914)CGT>TGT	p.R638C	BCL6_uc011bsf.1_Missense_Mutation_p.R582C|BCL6_uc010hza.2_Missense_Mutation_p.R536C|BCL6_uc003frq.1_Missense_Mutation_p.R638C	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	638	C2H2-type 5.				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGCCGGAAACGGGTGCCACAG	0.557			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL							
WDR53	348793	broad.mit.edu	37	3	196288243	196288243	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:196288243G>T	uc003fwt.2	-	3	575	c.104C>A	c.(103-105)GCT>GAT	p.A35D		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	35	WD 1.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TTCACCCCAAGCCGTGAGATC	0.542												
KIAA0226	9711	broad.mit.edu	37	3	197421303	197421303	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:197421303G>A	uc003fyc.2	-	10	1810	c.1627C>T	c.(1627-1629)CGC>TGC	p.R543C	KIAA0226_uc003fyd.3_Missense_Mutation_p.R498C|KIAA0226_uc003fye.1_Missense_Mutation_p.R250C|KIAA0226_uc003fyf.2_Missense_Mutation_p.R391C	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	543					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATTTGCTGGCGCCGAAGGCGG	0.547												
TMEM175	84286	broad.mit.edu	37	4	941596	941596	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:941596C>T	uc003gbq.2	+	2	167	c.69C>T	c.(67-69)GAC>GAT	p.D23D	TMEM175_uc010ibl.1_Silent_p.D23D|TMEM175_uc003gbp.1_Translation_Start_Site|TMEM175_uc003gbr.2_Translation_Start_Site|TMEM175_uc003gbu.2_Intron|TMEM175_uc003gbs.2_Translation_Start_Site|TMEM175_uc003gbt.2_Translation_Start_Site|TMEM175_uc003gbv.2_Intron	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	23						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCAGGAGAGACGAGGACGCTG	0.687												
DRD5	1816	broad.mit.edu	37	4	9784294	9784294	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:9784294C>T	uc003gmb.3	+	1	1037	c.641C>T	c.(640-642)GCA>GTA	p.A214V		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	214	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GACGTGAATGCAGAGAACTGT	0.602												
SCFD2	152579	broad.mit.edu	37	4	54140037	54140037	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:54140037C>T	uc003gzu.2	-	4	1401	c.1267G>A	c.(1267-1269)GCC>ACC	p.A423T	SCFD2_uc010igm.2_Missense_Mutation_p.A423T	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	423					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCCCACTTGGCAGTCTGTGGG	0.448												
SRD5A3	79644	broad.mit.edu	37	4	56225592	56225592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:56225592G>T	uc003hau.2	+	2	396	c.301G>T	c.(301-303)GGA>TGA	p.G101*		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	101	Helical; (Potential).				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			TCTGTTCCTGGGAGCACCTTT	0.493												
AASDH	132949	broad.mit.edu	37	4	57221488	57221488	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:57221488C>T	uc003hbn.2	-	6	1116	c.963G>A	c.(961-963)GCG>GCA	p.A321A	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.A168A|AASDH_uc003hbo.2_Silent_p.A221A|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Silent_p.A321A|AASDH_uc003hbp.2_Silent_p.A321A	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	321					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)				ATGATGGAAACGCTTCACCAC	0.413												
UGT2B15	7366	broad.mit.edu	37	4	69536157	69536157	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:69536157A>G	uc011cal.1	-	1	218	c.180T>C	c.(178-180)GCT>GCC	p.A60A		NM_001076	NP_001067	P54855	UDB15_HUMAN	UDP glycosyltransferase 2B15 precursor	60					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0						CAAGAGTAGAAGCCGAAGATG	0.373												
PAQR3	152559	broad.mit.edu	37	4	79841787	79841787	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:79841787G>A	uc003hlp.1	-	6	1046	c.842C>T	c.(841-843)GCA>GTA	p.A281V	PAQR3_uc003hlm.2_RNA|PAQR3_uc003hln.2_RNA|PAQR3_uc003hlq.1_Missense_Mutation_p.A163V	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	281	Helical; (Potential).					Golgi membrane|integral to membrane	receptor activity				0						CATCACTACTGCAAGGATATG	0.378												
GK2	2712	broad.mit.edu	37	4	80329257	80329257	+	Missense_Mutation	SNP	G	G	A	rs140376639	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:80329257G>A	uc003hlu.2	-	1	116	c.98C>T	c.(97-99)GCG>GTG	p.A33V		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	33					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						AAGTAGTTCCGCTGTTTTTGA	0.493												
C4orf22	255119	broad.mit.edu	37	4	81866027	81866027	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:81866027C>T	uc003hmf.2	+	5	589	c.540C>T	c.(538-540)GCC>GCT	p.A180A	C4orf22_uc010ijp.2_Silent_p.A197A	NM_152770	NP_689983	Q6V702	CD022_HUMAN	hypothetical protein LOC255119	180										skin(2)	2						AAGTGATTGCCGATAATCCAG	0.323												
PRKG2	5593	broad.mit.edu	37	4	82026979	82026979	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:82026979C>T	uc003hmh.2	-	15	2065	c.2051G>A	c.(2050-2052)CGG>CAG	p.R684Q	PRKG2_uc011ccf.1_Missense_Mutation_p.R264Q|PRKG2_uc011ccg.1_Missense_Mutation_p.R264Q|PRKG2_uc011cch.1_Missense_Mutation_p.R655Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	684	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						GCAAAGCCTCCGAATCAAATC	0.398												
SEC31A	22872	broad.mit.edu	37	4	83785628	83785628	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:83785628G>A	uc003hnf.2	-	11	1485	c.1321C>T	c.(1321-1323)CGA>TGA	p.R441*	SEC31A_uc003hne.2_Nonsense_Mutation_p.R213*|SEC31A_uc011ccl.1_Nonsense_Mutation_p.R441*|SEC31A_uc003hnl.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hng.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hnh.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hni.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hnj.2_Nonsense_Mutation_p.R441*|SEC31A_uc011ccm.1_Nonsense_Mutation_p.R436*|SEC31A_uc011ccn.1_Nonsense_Mutation_p.R441*|SEC31A_uc003hnk.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hnm.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hnn.1_Nonsense_Mutation_p.R441*|SEC31A_uc003hno.2_Nonsense_Mutation_p.R441*	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	441	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TGGTCTGATCGGCTGAGGAAC	0.433												
WDFY3	23001	broad.mit.edu	37	4	85708803	85708803	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:85708803C>T	uc003hpd.2	-	23	4141	c.3733G>A	c.(3733-3735)GTC>ATC	p.V1245I		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1245						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAGGCATAGACCGTGCTCACC	0.483												
PTPN13	5783	broad.mit.edu	37	4	87671685	87671685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:87671685C>T	uc003hpz.2	+	18	3193	c.2713C>T	c.(2713-2715)CGA>TGA	p.R905*	PTPN13_uc003hpy.2_Nonsense_Mutation_p.R905*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.R905*|PTPN13_uc003hqb.2_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	905						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TAATATGGGACGAGCAATCAG	0.468												
HERC6	55008	broad.mit.edu	37	4	89311998	89311998	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:89311998G>A	uc011cdi.1	+	4	814	c.631G>A	c.(631-633)GGG>AGG	p.G211R	HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Missense_Mutation_p.G211R|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	211	RCC1 4.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TAACAGTGCCGGGCAGCTGGC	0.562												
EIF4E	1977	broad.mit.edu	37	4	99812387	99812387	+	Splice_Site	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:99812387C>T	uc003hue.2	-	3	1744	c.221_splice	c.e3+1	p.A74_splice	EIF4E_uc011cea.1_Splice_Site_p.A94_splice|EIF4E_uc011ceb.1_Splice_Site_p.A74_splice|EIF4E_uc011cec.1_Splice_Site_p.A74_splice	NM_001968	NP_001959	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E						G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			lung(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		TGGTTACTTACGCCCAAAAGT	0.294												
DNAJB14	79982	broad.mit.edu	37	4	100824920	100824920	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:100824920A>G	uc003hvl.2	-	7	1129	c.978T>C	c.(976-978)ACT>ACC	p.T326T	DNAJB14_uc003hvk.2_Silent_p.T241T|DNAJB14_uc010ili.2_Silent_p.T259T	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	326					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTCGAATATTAGTCACATAAT	0.303												
NFKB1	4790	broad.mit.edu	37	4	103527761	103527761	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:103527761C>T	uc011ceq.1	+	17	2325	c.1858C>T	c.(1858-1860)CAC>TAC	p.H620Y	NFKB1_uc011cep.1_Missense_Mutation_p.H621Y|NFKB1_uc011cer.1_Missense_Mutation_p.H440Y	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	620	Interaction with CFLAR.|ANK 3.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CTCTGTTTTGCACCTAGCTGC	0.517												
SYNPO2	171024	broad.mit.edu	37	4	119952584	119952584	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:119952584A>G	uc003icm.3	+	4	2850	c.2654A>G	c.(2653-2655)AAG>AGG	p.K885R	SYNPO2_uc010ina.2_Missense_Mutation_p.K885R|SYNPO2_uc010inb.2_Missense_Mutation_p.K885R|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.K813R	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	885						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						AGAATGGAGAAGTATGTGGTC	0.552												
KIAA1109	84162	broad.mit.edu	37	4	123170765	123170765	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:123170765C>T	uc003ieh.2	+	34	5683	c.5638C>T	c.(5638-5640)CGA>TGA	p.R1880*	KIAA1109_uc003iek.2_Nonsense_Mutation_p.R499*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1880					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AGATGTAACTCGAATAGGTCC	0.343												
INTU	27152	broad.mit.edu	37	4	128628042	128628042	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:128628042C>T	uc003ifk.1	+	12	2259	c.2189C>T	c.(2188-2190)CCC>CTC	p.P730L	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	730										ovary(1)	1						GGCTTTAGCCCCCATACTACA	0.463												
PCDH10	57575	broad.mit.edu	37	4	134084227	134084227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:134084227C>T	uc003iha.2	+	4	3719	c.2893C>T	c.(2893-2895)CAG>TAG	p.Q965*		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	965	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGATGGACGCCAGGCTGCTGA	0.527												
POU4F2	5458	broad.mit.edu	37	4	147561355	147561355	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:147561355G>A	uc003ikv.2	+	2	873	c.625G>A	c.(625-627)GAC>AAC	p.D209N		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	209					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					GGCGGGCCCCGACGGCGCTGT	0.647												
PRMT10	90826	broad.mit.edu	37	4	148594871	148594871	+	Missense_Mutation	SNP	T	T	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:148594871T>A	uc003ilc.2	-	3	635	c.493A>T	c.(493-495)ATT>TTT	p.I165F	PRMT10_uc003ild.2_Missense_Mutation_p.I52F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	165						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						GCATTATAAATTGTATTCCTC	0.403												
LRBA	987	broad.mit.edu	37	4	151520209	151520209	+	Missense_Mutation	SNP	G	G	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:151520209G>C	uc010ipj.2	-	38	6470	c.5996C>G	c.(5995-5997)CCT>CGT	p.P1999R	LRBA_uc003ilt.3_Missense_Mutation_p.P658R|LRBA_uc003ilu.3_Missense_Mutation_p.P1999R	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1999						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CGATCCTAGAGGGTTACGCAC	0.502												
DCHS2	54798	broad.mit.edu	37	4	155241940	155241940	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:155241940A>G	uc003inw.2	-	14	3246	c.3246T>C	c.(3244-3246)GAT>GAC	p.D1082D		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1082	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACTGCCGTCATCATCTTTGG	0.443												
TKTL2	84076	broad.mit.edu	37	4	164394816	164394816	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:164394816C>T	uc003iqp.3	-	1	232	c.71G>A	c.(70-72)CGG>CAG	p.R24Q		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	24						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGAATGGATCCGCAGGCGGTT	0.602												
SCRG1	11341	broad.mit.edu	37	4	174312470	174312470	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:174312470T>C	uc003ite.2	-	2	509	c.96A>G	c.(94-96)ATA>ATG	p.I32M	SCRG1_uc003itf.2_RNA	NM_007281	NP_009212	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1 precursor	32					nervous system development	extracellular space					0		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		GATCTTTTAGTATCTTTCTGT	0.453												
SLC6A18	348932	broad.mit.edu	37	5	1243678	1243678	+	Silent	SNP	G	G	A	rs151263479	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:1243678G>A	uc003jby.1	+	9	1263	c.1140G>A	c.(1138-1140)TCG>TCA	p.S380S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	380	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGAGTGCCTCGGGCCCGGGCC	0.652												
SEMA5A	9037	broad.mit.edu	37	5	9190505	9190505	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:9190505G>A	uc003jek.2	-	11	1859	c.1147C>T	c.(1147-1149)CAT>TAT	p.H383Y		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	383	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						ACCACCTCATGCATCAGAATG	0.577												
DNAH5	1767	broad.mit.edu	37	5	13871844	13871844	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:13871844G>A	uc003jfd.2	-	23	3469	c.3427C>T	c.(3427-3429)CGC>TGC	p.R1143C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1143	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGATTGTAGCGTTTGAAGCAA	0.343									Kartagener_syndrome			
TRIO	7204	broad.mit.edu	37	5	14389425	14389425	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:14389425G>A	uc003jff.2	+	25	3982	c.3976G>A	c.(3976-3978)GTG>ATG	p.V1326M	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.V1277M|TRIO_uc003jfh.1_Missense_Mutation_p.V975M	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1326	DH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GACCAGTGGCGTGGAAGAGAT	0.398												
MYO10	4651	broad.mit.edu	37	5	16701363	16701363	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:16701363C>T	uc003jft.3	-	25	3609	c.3141G>A	c.(3139-3141)GCG>GCA	p.A1047A	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Silent_p.A404A|MYO10_uc011cne.1_Silent_p.A404A|MYO10_uc010itx.2_Silent_p.A670A	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1047					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CCGTGCTGTCCGCACTGGGGC	0.637												
CDH10	1008	broad.mit.edu	37	5	24593378	24593378	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:24593378G>A	uc003jgr.1	-	2	554	c.222C>T	c.(220-222)TAC>TAT	p.Y74Y	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	74	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CCTTGCCTACGTACTGATAAT	0.333										HNSCC(23;0.051)		
UGT3A2	167127	broad.mit.edu	37	5	36037950	36037950	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:36037950A>G	uc003jjz.1	-	6	1337	c.1244T>C	c.(1243-1245)CTC>CCC	p.L415P	UGT3A2_uc011cos.1_Missense_Mutation_p.L381P|UGT3A2_uc011cot.1_Missense_Mutation_p.L113P	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	415	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCTGCCTTGAGCTTCTTTAA	0.453												
EGFLAM	133584	broad.mit.edu	37	5	38352305	38352305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:38352305C>A	uc003jlc.1	+	5	741	c.417C>A	c.(415-417)TGC>TGA	p.C139*	EGFLAM_uc003jlb.1_Nonsense_Mutation_p.C139*	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	139						cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TAGATTCCTGCCTGCCTCCTG	0.562												
HCN1	348980	broad.mit.edu	37	5	45262136	45262136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:45262136G>A	uc003jok.2	-	8	2585	c.2560C>T	c.(2560-2562)CGA>TGA	p.R854*		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	854	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GGGACTCCTCGGTTCGGGGGG	0.632												
C5orf35	133383	broad.mit.edu	37	5	56208890	56208890	+	Silent	SNP	G	G	A	rs146080809	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:56208890G>A	uc003jqx.2	+	3	892	c.519G>A	c.(517-519)CCG>CCA	p.P173P	C5orf35_uc003jqy.2_RNA	NM_153706	NP_714917	Q8NE22	CE035_HUMAN	hypothetical protein LOC133383	173										ovary(1)	1		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173)		OV - Ovarian serous cystadenocarcinoma(10;2.58e-39)		TTGGAAATCCGTTTATTTTTA	0.348												
MAP1B	4131	broad.mit.edu	37	5	71490625	71490625	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:71490625G>A	uc003kbw.3	+	5	1684	c.1443G>A	c.(1441-1443)GCG>GCA	p.A481A	MAP1B_uc010iyw.1_Silent_p.A498A|MAP1B_uc010iyx.1_Silent_p.A355A|MAP1B_uc010iyy.1_Silent_p.A355A	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	481						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAAACCCTGCGGAGAAAATCA	0.463												
GFM2	84340	broad.mit.edu	37	5	74054702	74054702	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:74054702G>A	uc003kdh.1	-	5	580	c.276C>T	c.(274-276)TAC>TAT	p.Y92Y	GFM2_uc003kdi.1_Silent_p.Y92Y|GFM2_uc010izj.1_Silent_p.Y124Y|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Silent_p.Y92Y|GFM2_uc010izl.1_Silent_p.Y92Y	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	92					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ATCCGGAATAGTACAATATTC	0.363												
S100Z	170591	broad.mit.edu	37	5	76171212	76171212	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:76171212G>A	uc003kep.1	+	3	358	c.28G>A	c.(28-30)GAC>AAC	p.D10N	S100Z_uc003keq.3_Missense_Mutation_p.D10N	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	10							calcium ion binding			ovary(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		GATGGCCATGGACACCATGAT	0.532												
CMYA5	202333	broad.mit.edu	37	5	79054697	79054697	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:79054697G>T	uc003kgc.2	+	7	11304	c.11232G>T	c.(11230-11232)GAG>GAT	p.E3744D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3744	Fibronectin type-III 1.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACTGCATGGAGGAGCCACAAG	0.373												
RASGRF2	5924	broad.mit.edu	37	5	80513294	80513294	+	Splice_Site	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:80513294T>C	uc003kha.1	+	25	3552	c.3552_splice	c.e25+2	p.M1184_splice	RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_Splice_Site	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATGAGAATGGTAGGTATAATT	0.338												
EFNA5	1946	broad.mit.edu	37	5	106717055	106717055	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:106717055G>A	uc003kol.2	-	5	870	c.588C>T	c.(586-588)GCC>GCT	p.A196A		NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5 precursor	196					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GGGATGGCTCGGCTGACTCAT	0.493												
PJA2	9867	broad.mit.edu	37	5	108719145	108719145	+	Translation_Start_Site	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:108719145G>A	uc003kos.3	-	2	210	c.-10C>T	c.(-12--8)GACGC>GATGC			NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing						long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		atatggcagcgtctgtgtgac	0												
FSTL4	23105	broad.mit.edu	37	5	132552921	132552921	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:132552921C>A	uc003kyn.1	-	13	1826	c.1608G>T	c.(1606-1608)CAG>CAT	p.Q536H	FSTL4_uc003kym.1_Missense_Mutation_p.Q185H	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	536						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAGGTGTACCTGTAGGACTT	0.522												
FAM53C	51307	broad.mit.edu	37	5	137677044	137677044	+	Missense_Mutation	SNP	A	A	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:137677044A>T	uc003lcv.2	+	2	490	c.20A>T	c.(19-21)GAG>GTG	p.E7V	CDC25C_uc011cyp.1_5'Flank|CDC25C_uc003lcs.1_5'Flank|FAM53C_uc003lcw.2_Missense_Mutation_p.E7V|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_Intron	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	7										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGATCACTGAGCAGCTACAG	0.502												
LRRTM2	26045	broad.mit.edu	37	5	138209269	138209269	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:138209269G>A	uc011cyz.1	-	2	1438	c.981C>T	c.(979-981)GGC>GGT	p.G327G	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Silent_p.G193G|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	327	Extracellular (Potential).|LRRCT.					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTTGGAAACTGCCCAGCCAGG	0.537												
PCDHA4	56144	broad.mit.edu	37	5	140186857	140186857	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140186857G>A	uc003lhi.2	+	1	186	c.85G>A	c.(85-87)GGT>AGT	p.G29S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.G29S|PCDHA4_uc011daa.1_Missense_Mutation_p.G29S	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	29					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGGGAACGGTCAGCTCCA	0.632												
PCDHA4	56144	broad.mit.edu	37	5	140188890	140188890	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140188890G>A	uc003lhi.2	+	1	2219	c.2118G>A	c.(2116-2118)GCG>GCA	p.A706A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A706A|PCDHA4_uc011daa.1_Silent_p.A706A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	706	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCTGCGCGGTGTCCAGCC	0.672												
PCDHA6	56142	broad.mit.edu	37	5	140209767	140209767	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140209767C>T	uc003lho.2	+	1	2118	c.2091C>T	c.(2089-2091)AAC>AAT	p.N697N	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_uc011dab.1_Silent_p.N697N	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	697	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATGTCAACGTGTACCTGA	0.682												
PCDHA8	56140	broad.mit.edu	37	5	140221046	140221046	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140221046G>A	uc003lhs.2	+	1	140	c.140G>A	c.(139-141)CGG>CAG	p.R47Q	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_uc003lhr.1_Missense_Mutation_p.R47Q	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	47	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGGATCGCGCAG	0.662												
PCDHA11	56138	broad.mit.edu	37	5	140249968	140249968	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140249968G>A	uc003lia.2	+	1	2138	c.1280G>A	c.(1279-1281)CGG>CAG	p.R427Q	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_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R427Q	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACTGCGCGGGATGGGGGT	0.617												
PCDHA11	56138	broad.mit.edu	37	5	140250122	140250122	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140250122G>A	uc003lia.2	+	1	2292	c.1434G>A	c.(1432-1434)GCG>GCA	p.A478A	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_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.A478A	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	478	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGTCGGCGCGGGACGCGG	0.667												
PCDHA12	56137	broad.mit.edu	37	5	140256792	140256792	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140256792G>A	uc003lic.2	+	1	1862	c.1735G>A	c.(1735-1737)GAG>AAG	p.E579K	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_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.E579K	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	579	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGTTAGCGAGTTGGTACC	0.667												
PCDHB2	56133	broad.mit.edu	37	5	140475679	140475679	+	Silent	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140475679C>A	uc003lil.2	+	1	1443	c.1305C>A	c.(1303-1305)ACC>ACA	p.T435T	PCDHB2_uc003lim.1_Silent_p.T96T	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	435	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGAAAACCGAGCACAACA	0.577												
PCDHB7	56129	broad.mit.edu	37	5	140553577	140553577	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140553577C>T	uc003lit.2	+	1	1335	c.1161C>T	c.(1159-1161)GAC>GAT	p.D387D		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	387	Extracellular (Potential).|Cadherin 4.				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)			CCATCCAGGACGATGTCCCCT	0.473												
PCDHGA8	9708	broad.mit.edu	37	5	140774370	140774370	+	Missense_Mutation	SNP	G	G	A	rs143444747	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140774370G>A	uc003lkd.1	+	1	2888	c.1990G>A	c.(1990-1992)GTG>ATG	p.V664M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V664M	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	664	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTAGCCGTGGCTGACAG	0.627												
PCDH12	51294	broad.mit.edu	37	5	141325097	141325097	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:141325097G>A	uc003llx.2	-	4	4615	c.3404C>T	c.(3403-3405)GCG>GTG	p.A1135V		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	1135	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCGCAGCGCCTCGGAGGC	0.647												
PDGFRB	5159	broad.mit.edu	37	5	149515165	149515165	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:149515165C>T	uc003lro.2	-	3	786	c.317G>A	c.(316-318)CGT>CAT	p.R106H	PDGFRB_uc010jhd.2_Translation_Start_Site|PDGFRB_uc011dcg.1_Missense_Mutation_p.R106H	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	106	Extracellular (Potential).|Ig-like C2-type 1.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCAGTCCACGGGAGTCATT	0.577			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
GRIA1	2890	broad.mit.edu	37	5	153030051	153030051	+	Missense_Mutation	SNP	C	C	T	rs146865938	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:153030051C>T	uc003lva.3	+	4	987	c.622C>T	c.(622-624)CGC>TGC	p.R208C	GRIA1_uc003luy.3_Missense_Mutation_p.R208C|GRIA1_uc003luz.3_Missense_Mutation_p.R113C|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R128C|GRIA1_uc011dcx.1_Missense_Mutation_p.R139C|GRIA1_uc011dcy.1_Missense_Mutation_p.R218C|GRIA1_uc011dcz.1_Missense_Mutation_p.R218C|GRIA1_uc010jia.1_Missense_Mutation_p.R188C	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	208	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGAATCAGAACGCCTCAATGC	0.527												
GEMIN5	25929	broad.mit.edu	37	5	154272096	154272096	+	Missense_Mutation	SNP	A	A	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:154272096A>T	uc003lvx.3	-	25	3694	c.3611T>A	c.(3610-3612)ATT>AAT	p.I1204N	GEMIN5_uc011ddk.1_Missense_Mutation_p.I1203N	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	1204					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCATGGCAAATGTGAAGCAG	0.577												
PWWP2A	114825	broad.mit.edu	37	5	159520771	159520771	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:159520771G>A	uc011ded.1	-	2	943	c.886C>T	c.(886-888)CGA>TGA	p.R296*	PWWP2A_uc003lxv.3_Nonsense_Mutation_p.R296*|PWWP2A_uc011dec.1_Nonsense_Mutation_p.R296*	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A isoform b	296											0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTTTGGGTCGCTTAATTTTC	0.423												
MAT2B	27430	broad.mit.edu	37	5	162945289	162945289	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:162945289A>G	uc003lzk.2	+	7	1033	c.925A>G	c.(925-927)ACA>GCA	p.T309A	MAT2B_uc003lzj.2_Missense_Mutation_p.T298A|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.2_Missense_Mutation_p.T49A	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta isoform	309					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			upper_aerodigestive_tract(1)	1	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGGCCAACGAACACCATTTCG	0.433												
DOCK2	1794	broad.mit.edu	37	5	169108866	169108866	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:169108866C>T	uc003maf.2	+	7	669	c.589C>T	c.(589-591)CGT>TGT	p.R197C	DOCK2_uc011der.1_RNA	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	197					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATCACAGAGCGTATCAAAGA	0.383												
RGS14	10636	broad.mit.edu	37	5	176793219	176793219	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:176793219C>T	uc003mgf.2	+	3	291	c.109C>T	c.(109-111)CGC>TGC	p.R37C	RGS14_uc003mgg.1_5'Flank|RGS14_uc003mgh.2_5'Flank|RGS14_uc003mgi.2_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	37					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCGAGGGCCGCGGCAGCTC	0.697												
SQSTM1	8878	broad.mit.edu	37	5	179263532	179263532	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:179263532A>G	uc003mkw.3	+	8	1357	c.1262A>G	c.(1261-1263)AAC>AGC	p.N421S	SQSTM1_uc011dgr.1_Missense_Mutation_p.N337S|SQSTM1_uc011dgs.1_Missense_Mutation_p.N337S|SQSTM1_uc003mkv.3_Missense_Mutation_p.T338A|SQSTM1_uc003mkx.2_Missense_Mutation_p.N337S	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	421	Interaction with NTRK1 (By similarity).|UBA.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGACCAAGAACTATGACATC	0.592									Paget_Disease_of_Bone			
GFPT2	9945	broad.mit.edu	37	5	179734305	179734305	+	Splice_Site	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:179734305T>C	uc003mlw.1	-	16	1645	c.1547_splice	c.e16-1	p.E516_splice		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2						dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGATCAGCTCTGGGCCATGCA	0.537												
EXOC2	55770	broad.mit.edu	37	6	576834	576834	+	Missense_Mutation	SNP	C	C	T	rs145867129		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:576834C>T	uc003mtd.2	-	12	1375	c.1241G>A	c.(1240-1242)CGT>CAT	p.R414H	EXOC2_uc003mte.2_Missense_Mutation_p.R414H|EXOC2_uc011dho.1_Missense_Mutation_p.R9H	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	414					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CACTGAGGGACGTGTATCATT	0.502												
C6orf146	222826	broad.mit.edu	37	6	4073578	4073578	+	Splice_Site	SNP	T	T	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:4073578T>G	uc003mvx.2	-	6	575	c.235_splice	c.e6-1	p.N79_splice	C6orf146_uc010jnq.1_Splice_Site|C6orf146_uc003mvy.2_Splice_Site_p.N16_splice	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	hypothetical protein LOC222826											ovary(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TTTACTATTCTGATGACAGAA	0.303												
PECI	10455	broad.mit.edu	37	6	4125528	4125528	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:4125528C>T	uc003mwf.2	-	7	788	c.751G>A	c.(751-753)GTC>ATC	p.V251I	C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_RNA|C6orf201_uc011dhw.1_3'UTR|C6orf201_uc003mwb.3_RNA|PECI_uc003mwc.2_Missense_Mutation_p.V84I|PECI_uc003mwd.2_Missense_Mutation_p.V221I|PECI_uc003mwe.2_Missense_Mutation_p.V98I|PECI_uc010jnr.1_Intron	NM_206836	NP_996667	O75521	ECI2_HUMAN	peroxisomal D3,D2-enoyl-CoA isomerase isoform 2	251	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding				0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGGAGGGTGACGGAGATGCCC	0.493												
CD83	9308	broad.mit.edu	37	6	14131847	14131847	+	Missense_Mutation	SNP	G	G	A	rs147342996		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:14131847G>A	uc003nbi.2	+	3	428	c.250G>A	c.(250-252)GCC>ACC	p.A84T	CD83_uc003nbh.2_Missense_Mutation_p.A84T	NM_004233	NP_004224	Q01151	CD83_HUMAN	CD83 antigen isoform a	84	Extracellular (Potential).|Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane					0	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TTCTTTCGACGCCCCCAATGA	0.542												
NHLRC1	378884	broad.mit.edu	37	6	18122356	18122356	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:18122356G>A	uc003ncl.1	-	1	496	c.482C>T	c.(481-483)GCG>GTG	p.A161V		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	161	NHL 2.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AAACTGATGCGCGCATCCTCC	0.602												
HIST1H2BF	8343	broad.mit.edu	37	6	26200079	26200079	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:26200079C>T	uc003ngx.2	+	1	293	c.293C>T	c.(292-294)GCC>GTC	p.A98V	HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	NM_003522	NP_003513	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	98					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0		all_hematologic(11;0.196)				ATCCAGACGGCCGTACGCCTG	0.597												
HIST1H2AE	3012	broad.mit.edu	37	6	26217297	26217297	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:26217297A>G	uc003nha.1	+	1	150	c.95A>G	c.(94-96)CAC>CGC	p.H32R	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	32					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				GGCCGTGTGCACCGCCTCCTC	0.597												
DDR1	780	broad.mit.edu	37	6	30856514	30856514	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:30856514C>T	uc003nrr.2	+	3	267	c.8C>T	c.(7-9)CCA>CTA	p.P3L	DDR1_uc010jse.2_Missense_Mutation_p.P3L|DDR1_uc003nrq.2_Missense_Mutation_p.P3L|DDR1_uc003nrs.2_Missense_Mutation_p.P3L|DDR1_uc003nrt.2_Missense_Mutation_p.P3L|DDR1_uc011dms.1_Missense_Mutation_p.P21L|DDR1_uc011dmt.1_Missense_Mutation_p.P29L|DDR1_uc003nru.2_Missense_Mutation_p.P3L|DDR1_uc011dmu.1_Missense_Mutation_p.P3L|DDR1_uc003nrv.2_Missense_Mutation_p.P3L|DDR1_uc003nrw.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	3					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	GCTATGGGACCAGAGGCCCTG	0.542												
VARS2	57176	broad.mit.edu	37	6	30887544	30887544	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:30887544G>A	uc003nsc.1	+	11	1716	c.1084G>A	c.(1084-1086)GGG>AGG	p.G362R	VARS2_uc011dmx.1_Missense_Mutation_p.G362R|VARS2_uc011dmy.1_Missense_Mutation_p.G222R|VARS2_uc011dmz.1_Missense_Mutation_p.G392R|VARS2_uc011dna.1_Missense_Mutation_p.G362R|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	362					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						GCATCTACACGGGCGACAGCT	0.587												
C6orf27	80737	broad.mit.edu	37	6	31733790	31733790	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:31733790A>G	uc011dog.1	-	16	2607	c.2369T>C	c.(2368-2370)CTG>CCG	p.L790P		NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	790						extracellular region				ovary(3)	3						TGGGACCTCCAGCCACAGGCG	0.622												
C6orf48	50854	broad.mit.edu	37	6	31807422	31807422	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:31807422A>G	uc003rjx.1	+	5	723	c.210A>G	c.(208-210)GGA>GGG	p.G70G	C6orf48_uc003rjy.1_Silent_p.G70G|C6orf48_uc003rjz.1_RNA	NM_001040437	NP_001035527	Q9UBA6	G8_HUMAN	G8 protein	70											0						TTATTGGGGGAAAAATGCCTG	0.368												
TNXB	7148	broad.mit.edu	37	6	32063535	32063535	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:32063535G>A	uc003nzl.2	-	3	2297	c.2095C>T	c.(2095-2097)CGG>TGG	p.R699W		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	699	EGF-like 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TGGCCTGCCCGGCACAGTTCC	0.682												
GPSM3	63940	broad.mit.edu	37	6	32159934	32159934	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:32159934G>A	uc003oay.3	-	2	529	c.136C>T	c.(136-138)CGC>TGC	p.R46C	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Silent_p.P35P|GPSM3_uc003oaz.2_Missense_Mutation_p.R46C	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	46					signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CCTGTGTGGCGGGTCCCTGGA	0.662												
NOTCH4	4855	broad.mit.edu	37	6	32187491	32187491	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:32187491C>T	uc003obb.2	-	8	1527	c.1388G>A	c.(1387-1389)TGT>TAT	p.C463Y	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.C463Y	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	463	EGF-like 11; calcium-binding (Potential).|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GCCAGGTGGACAGAGGCAGTT	0.607												
ITPR3	3710	broad.mit.edu	37	6	33623607	33623607	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:33623607G>A	uc011drk.1	+	3	444	c.225G>A	c.(223-225)AAG>AAA	p.K75K		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	75	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GGAAGGCCAAGCAGACTAAGC	0.562												
NUDT3	11165	broad.mit.edu	37	6	34309655	34309655	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:34309655C>T	uc003ojl.2	-	2	496	c.194G>A	c.(193-195)CGT>CAT	p.R65H		NM_006703	NP_006694	O95989	NUDT3_HUMAN	nudix-type motif 3	65	Nudix box.|Nudix hydrolase.				cell-cell signaling|diadenosine polyphosphate catabolic process|diphosphoinositol polyphosphate catabolic process	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|magnesium ion binding				0						ACAGACTTCACGAACTGCTGC	0.527												
SLC26A8	116369	broad.mit.edu	37	6	35919042	35919042	+	Silent	SNP	G	G	A	rs143363265		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:35919042G>A	uc003olm.2	-	19	2481	c.2370C>T	c.(2368-2370)GAC>GAT	p.D790D	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Silent_p.D372D|SLC26A8_uc003oln.2_Silent_p.D790D|SLC26A8_uc003oll.2_Silent_p.D685D	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	790	Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						ACAGCACGGCGTCGTGAACGC	0.488												
PI16	221476	broad.mit.edu	37	6	36929281	36929281	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:36929281C>T	uc003ona.2	+	3	776	c.448C>T	c.(448-450)CTC>TTC	p.L150F	PI16_uc003omz.1_Missense_Mutation_p.L150F|PI16_uc003onb.2_Missense_Mutation_p.L150F|PI16_uc011dts.1_5'UTR	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	150	Extracellular (Potential).					extracellular region|integral to membrane	peptidase inhibitor activity				0						CTGTGAGAAGCTCCAGGGTGT	0.577												
RNF8	9025	broad.mit.edu	37	6	37336726	37336726	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:37336726C>T	uc003onq.3	+	3	900	c.707C>T	c.(706-708)GCC>GTC	p.A236V	RNF8_uc003onr.3_Missense_Mutation_p.A236V|RNF8_uc011dtx.1_Missense_Mutation_p.A168V	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1	236					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						GAGCAGAAAGCCTCAAACTCT	0.473												
DNAH8	1769	broad.mit.edu	37	6	38875809	38875809	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:38875809T>C	uc003ooe.1	+	62	9375	c.8775T>C	c.(8773-8775)CCT>CCC	p.P2925P	uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GGGAGCTACCTCGCCATCCTC	0.388												
KIF6	221458	broad.mit.edu	37	6	39325124	39325124	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:39325124G>A	uc003oot.2	-	19	2204	c.2109C>T	c.(2107-2109)CTC>CTT	p.L703L	KIF6_uc003oos.2_Silent_p.L154L|KIF6_uc010jwz.1_Silent_p.L78L|KIF6_uc010jxa.1_Silent_p.L494L|KIF6_uc011dua.1_Silent_p.L686L|KIF6_uc010jxb.1_Silent_p.L647L	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	703					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TCGTGTGATCGAGTGAATTCA	0.438												
CNPY3	10695	broad.mit.edu	37	6	42905564	42905564	+	Missense_Mutation	SNP	A	A	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:42905564A>C	uc003ota.3	+	4	931	c.482A>C	c.(481-483)GAC>GCC	p.D161A	CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_Missense_Mutation_p.D161A|CNPY3_uc003otc.3_Missense_Mutation_p.D36A|CNPY3_uc003otb.3_Missense_Mutation_p.D72A	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	trinucleotide repeat containing 5 precursor	161	Saposin B-type.|Potential.				innate immune response	endoplasmic reticulum				ovary(1)	1	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GAGGTGGCTGACCTCAAGAAG	0.567												
MEP1A	4224	broad.mit.edu	37	6	46801266	46801266	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:46801266A>G	uc010jzh.1	+	11	1642	c.1600A>G	c.(1600-1602)ACA>GCA	p.T534A	MEP1A_uc011dwg.1_Missense_Mutation_p.T256A|MEP1A_uc011dwh.1_Missense_Mutation_p.T562A|MEP1A_uc011dwi.1_Missense_Mutation_p.T434A	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	534	MATH.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			GAAGTCGCACACATCTCCAGG	0.507												
KIAA1586	57691	broad.mit.edu	37	6	56917622	56917622	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:56917622G>A	uc003pdj.2	+	4	495	c.325G>A	c.(325-327)GAG>AAG	p.E109K	KIAA1586_uc011dxm.1_Missense_Mutation_p.E82K	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	109							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACCACATTTCGAGTATATTGA	0.333												
EYS	346007	broad.mit.edu	37	6	66204803	66204803	+	Silent	SNP	C	C	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:66204803C>G	uc011dxu.1	-	4	1039	c.501G>C	c.(499-501)GTG>GTC	p.V167V	EYS_uc003peq.2_Silent_p.V167V|EYS_uc003per.1_Silent_p.V167V|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	167					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						GTTTCACTGTCACATTTAGTC	0.433												
SOBP	55084	broad.mit.edu	37	6	107827633	107827633	+	Splice_Site	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:107827633T>C	uc003prx.2	+	3	925	c.421_splice	c.e3+2	p.E141_splice	SOBP_uc003prw.1_Splice_Site_p.E141_splice	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog								metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CACCAGCAGGTAAGTCACTAC	0.393												
SCML4	256380	broad.mit.edu	37	6	108067962	108067962	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:108067962C>T	uc010kdf.2	-	4	669	c.418G>A	c.(418-420)GAC>AAC	p.D140N	SCML4_uc003prz.3_Missense_Mutation_p.D82N|SCML4_uc011eam.1_Missense_Mutation_p.D140N|SCML4_uc003psa.3_Missense_Mutation_p.D111N	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		TGGGCGCAGTCGATGCAGGCT	0.642												
SMPD2	6610	broad.mit.edu	37	6	109764279	109764279	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:109764279T>C	uc003pti.2	+	8	1118	c.724T>C	c.(724-726)TAC>CAC	p.Y242H	PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral	242					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CTACGTGCTTTACAAGGTCAG	0.498												
LAMA4	3910	broad.mit.edu	37	6	112454679	112454679	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:112454679C>A	uc003pvu.2	-	27	3877	c.3568G>T	c.(3568-3570)GCA>TCA	p.A1190S	LAMA4_uc003pvv.2_Missense_Mutation_p.A1183S|LAMA4_uc003pvt.2_Missense_Mutation_p.A1183S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1190	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGAAGGTGTGCTCTGAGGGCC	0.448												
C6orf204	387119	broad.mit.edu	37	6	118953649	118953649	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:118953649C>T	uc003pxz.1	-	2	787	c.199G>A	c.(199-201)GGC>AGC	p.G67S	C6orf204_uc003pya.1_Missense_Mutation_p.G70S|C6orf204_uc003pyb.2_Missense_Mutation_p.G67S|C6orf204_uc011ebj.1_5'UTR|C6orf204_uc003pyc.2_Missense_Mutation_p.G70S|C6orf204_uc011ebl.1_5'UTR	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	67						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		GTTCCAATGCCAGTGTCTCCA	0.403												
EYA4	2070	broad.mit.edu	37	6	133783519	133783519	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:133783519G>A	uc003qec.3	+	8	942	c.484G>A	c.(484-486)GCC>ACC	p.A162T	EYA4_uc011ecq.1_Missense_Mutation_p.A108T|EYA4_uc011ecr.1_Missense_Mutation_p.A108T|EYA4_uc003qed.3_Missense_Mutation_p.A162T|EYA4_uc003qee.3_Missense_Mutation_p.A139T|EYA4_uc011ecs.1_Missense_Mutation_p.A162T|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	162					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AACAATGTCTGCCTATGCAGG	0.468												
SLC2A12	154091	broad.mit.edu	37	6	134312334	134312334	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:134312334A>G	uc003qem.1	-	5	1984	c.1813T>C	c.(1813-1815)TGT>CGT	p.C605R		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	605	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CCCCTACCACACAGCTTGTTA	0.463												
LRP11	84918	broad.mit.edu	37	6	150141737	150141737	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:150141737C>T	uc003qng.2	-	7	1775	c.1451G>A	c.(1450-1452)CGT>CAT	p.R484H		NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein	484	Cytoplasmic (Potential).					integral to membrane	receptor activity				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		TGTAATGGGACGAGCTTTTTT	0.448												
ARID1B	57492	broad.mit.edu	37	6	157488279	157488279	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:157488279G>A	uc003qqn.2	+	9	2924	c.2772G>A	c.(2770-2772)CCG>CCA	p.P924P	ARID1B_uc003qqo.2_Silent_p.P937P|ARID1B_uc003qqp.2_Silent_p.P924P|ARID1B_uc010kjl.2_Silent_p.P122P	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	982					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCAGGCGCCGCCCTACAGCA	0.612												
ACAT2	39	broad.mit.edu	37	6	160198409	160198409	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:160198409C>T	uc010kjy.2	+	7	964	c.833C>T	c.(832-834)GCA>GTA	p.A278V	ACAT2_uc011efw.1_Missense_Mutation_p.A307V	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN	acetyl-Coenzyme A acetyltransferase 2	278						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACACCTTTAGCACGGATAGTT	0.433												
THBS2	7058	broad.mit.edu	37	6	169648825	169648825	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:169648825G>A	uc003qwt.2	-	4	544	c.296C>T	c.(295-297)ACG>ATG	p.T99M		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	99	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.T99M(1)		ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGCCAACAGCGTGCCCCTGGA	0.622												
C6orf70	55780	broad.mit.edu	37	6	170159118	170159118	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:170159118G>A	uc003qxg.1	+	6	595	c.562G>A	c.(562-564)GTC>ATC	p.V188I	C6orf70_uc011ehb.1_Missense_Mutation_p.V62I|C6orf70_uc003qxh.1_Missense_Mutation_p.V188I|C6orf70_uc010kky.1_Missense_Mutation_p.V62I	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	188						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CCTGCGTAACGTCTTATGGCA	0.378												
MICALL2	79778	broad.mit.edu	37	7	1476465	1476465	+	Missense_Mutation	SNP	C	C	T	rs147056642	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:1476465C>T	uc003skj.3	-	15	2651	c.2504G>A	c.(2503-2505)CGG>CAG	p.R835Q	MICALL2_uc003skh.3_Missense_Mutation_p.R58Q|MICALL2_uc003ski.3_Missense_Mutation_p.R322Q	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	835	Potential.					cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTGCTCCCGCCGCCGCTCCTG	0.667												
FOXK1	221937	broad.mit.edu	37	7	4794120	4794120	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:4794120C>T	uc003snc.1	+	3	787	c.777C>T	c.(775-777)CGC>CGT	p.R259R	FOXK1_uc003sna.1_Silent_p.R96R|FOXK1_uc003snb.1_Silent_p.R259R	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	259					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCAGTCCACGCGGTGCCGGCT	0.627												
TNRC18	84629	broad.mit.edu	37	7	5352185	5352185	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:5352185G>A	uc003soi.3	-	27	8686	c.8337C>T	c.(8335-8337)GCC>GCT	p.A2779A		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2779							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCAGGAAGGCGGCGATCTTGG	0.706												
EIF2AK1	27102	broad.mit.edu	37	7	6080770	6080770	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:6080770C>T	uc003spp.2	-	9	1018	c.872G>A	c.(871-873)CGC>CAC	p.R291H	EIF2AK1_uc003spq.2_Missense_Mutation_p.R290H|EIF2AK1_uc011jwm.1_Missense_Mutation_p.R167H|EIF2AK1_uc003spr.1_Missense_Mutation_p.R83H	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	291	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TTCTCCAAAGCGTTTTTCTTT	0.388												
KDELR2	11014	broad.mit.edu	37	7	6505908	6505908	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:6505908G>A	uc003sqe.3	-	4	559	c.398C>T	c.(397-399)CCG>CTG	p.P133L	DAGLB_uc003sqd.3_Intron|KDELR2_uc003sqf.3_Intron	NM_006854	NP_006845	P33947	ERD22_HUMAN	KDEL receptor 2 isoform 1	133	Helical; (Potential).				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AAATAGCTGCGGAAGGATAGC	0.542												
HDAC9	9734	broad.mit.edu	37	7	18833017	18833017	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:18833017G>A	uc003suh.2	+	16	2296	c.2255G>A	c.(2254-2256)CGC>CAC	p.R752H	HDAC9_uc003sue.2_Missense_Mutation_p.R752H|HDAC9_uc011jyd.1_Missense_Mutation_p.R752H|HDAC9_uc003sui.2_Missense_Mutation_p.R755H|HDAC9_uc003suj.2_Missense_Mutation_p.R711H|HDAC9_uc003suk.2_5'UTR|HDAC9_uc003sua.1_Missense_Mutation_p.R730H	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	752	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTGCTGCACGCATGGCTGTT	0.488												
BMPER	168667	broad.mit.edu	37	7	34118621	34118621	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:34118621C>T	uc011kap.1	+	12	1345	c.1231C>T	c.(1231-1233)CGG>TGG	p.R411W		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	411	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						CGACGCCCGCCGGACACGCTC	0.622												
AEBP1	165	broad.mit.edu	37	7	44153382	44153382	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:44153382G>A	uc003tkb.2	+	21	3304	c.2999G>A	c.(2998-3000)CGG>CAG	p.R1000Q	AEBP1_uc003tkc.3_Missense_Mutation_p.R575Q|AEBP1_uc003tkd.2_Missense_Mutation_p.R250Q	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	1000	Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AACGGGAACCGGCCTATCCCA	0.607												
SUN3	256979	broad.mit.edu	37	7	48046807	48046807	+	Missense_Mutation	SNP	G	G	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:48046807G>C	uc003tof.2	-	6	544	c.447C>G	c.(445-447)AAC>AAG	p.N149K	SUN3_uc010kyq.2_Missense_Mutation_p.N49K|SUN3_uc003tog.2_Missense_Mutation_p.N149K|SUN3_uc011kcf.1_Missense_Mutation_p.N137K	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	149						integral to membrane				central_nervous_system(1)	1						GGGTGTTCCAGTTGTGATTAT	0.493												
ZPBP	11055	broad.mit.edu	37	7	50022936	50022936	+	Splice_Site	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:50022936A>G	uc003tou.2	-	7	1031	c.961_splice	c.e7+1	p.V321_splice	ZPBP_uc011kci.1_Splice_Site_p.V247_splice|ZPBP_uc010kyw.2_Splice_Site_p.V320_splice	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1						binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					TTCATTACATACCACAGCACT	0.323												
BAZ1B	9031	broad.mit.edu	37	7	72925183	72925183	+	Splice_Site	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:72925183C>A	uc003tyc.2	-	2	453	c.108_splice	c.e2-1	p.E36_splice		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B						ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCATACTCTCTGTTGGCAGT	0.433												
CLIP2	7461	broad.mit.edu	37	7	73790244	73790244	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:73790244G>A	uc003uam.2	+	10	1840	c.1513G>A	c.(1513-1515)GTG>ATG	p.V505M	CLIP2_uc003uan.2_Missense_Mutation_p.V470M|CLIP2_uc003uao.2_Translation_Start_Site	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	505	Potential.					microtubule associated complex				skin(3)	3						GAAGTCGCGCGTGCTGCAGCT	0.657												
PCLO	27445	broad.mit.edu	37	7	82785657	82785657	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:82785657C>T	uc003uhx.2	-	2	589	c.300G>A	c.(298-300)CCG>CCA	p.P100P	PCLO_uc003uhv.2_Silent_p.P100P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	100					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCCCAGGGTCCGGGGGTCTTC	0.418												
ABCB1	5243	broad.mit.edu	37	7	87144568	87144568	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:87144568G>A	uc003uiz.1	-	26	3679	c.3261C>T	c.(3259-3261)TAC>TAT	p.Y1087Y	ABCB1_uc011khc.1_Silent_p.Y1023Y	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	1087	Cytoplasmic (Potential).|ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCAAGGGGTCGTAGAACCGCT	0.517												
PON1	5444	broad.mit.edu	37	7	94953783	94953783	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:94953783G>A	uc003uns.2	-	1	102	c.5C>T	c.(4-6)GCG>GTG	p.A2V	PON1_uc011kih.1_Intron	NM_000446	NP_000437	P27169	PON1_HUMAN	paraoxonase 1 precursor	2					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AATCAGCTTCGCCATGGTCGG	0.622												
TRRAP	8295	broad.mit.edu	37	7	98490105	98490105	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:98490105G>A	uc003upp.2	+	5	529	c.320G>A	c.(319-321)CGT>CAT	p.R107H	TRRAP_uc011kis.1_Missense_Mutation_p.R107H	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	107					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAACATCTTCGTCCTCACACA	0.333												
CUX1	1523	broad.mit.edu	37	7	101844792	101844792	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:101844792A>G	uc003uyx.3	+	18	2253	c.2215A>G	c.(2215-2217)ACC>GCC	p.T739A	CUX1_uc003uys.3_Missense_Mutation_p.T750A|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	739					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GAGTGACATCACCATCCTCAC	0.642												
PUS7	54517	broad.mit.edu	37	7	105108874	105108874	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:105108874A>G	uc003vcx.2	-	12	1654	c.1435T>C	c.(1435-1437)TAC>CAC	p.Y479H	PUS7_uc010lji.2_Missense_Mutation_p.Y485H|PUS7_uc003vcy.2_Missense_Mutation_p.Y479H|PUS7_uc003vcz.1_Missense_Mutation_p.Y479H	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	479	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						TAGCTTTGGTAGCTATGAATA	0.368												
PIK3CG	5294	broad.mit.edu	37	7	106508461	106508461	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:106508461G>A	uc003vdv.3	+	2	540	c.455G>A	c.(454-456)CGG>CAG	p.R152Q	PIK3CG_uc003vdu.2_Missense_Mutation_p.R152Q|PIK3CG_uc003vdw.2_Missense_Mutation_p.R152Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	152					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GCCTTCCAGCGGCAGCTCACG	0.672												
PPP1R3A	5506	broad.mit.edu	37	7	113519997	113519997	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:113519997C>T	uc010ljy.1	-	4	1181	c.1150G>A	c.(1150-1152)GTA>ATA	p.V384I		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	384					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TCTCCCTTTACGGAGCTTTCT	0.398												
FAM3C	10447	broad.mit.edu	37	7	121003000	121003000	+	Silent	SNP	T	T	A	rs146438816		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:121003000T>A	uc003vjx.2	-	7	581	c.333A>T	c.(331-333)GGA>GGT	p.G111G	FAM3C_uc010lkm.2_Silent_p.G111G	NM_014888	NP_055703	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	111					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity				0	all_neural(327;0.117)					CTCCTGTTTTTCCTAAAAGAG	0.323												
NRF1	4899	broad.mit.edu	37	7	129367082	129367082	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:129367082G>A	uc003voz.2	+	10	1342	c.1225G>A	c.(1225-1227)GAA>AAA	p.E409K	NRF1_uc003vpa.2_Missense_Mutation_p.E409K|NRF1_uc011kpa.1_Missense_Mutation_p.E248K|NRF1_uc003vpb.2_Missense_Mutation_p.E409K	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	409	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TGCCCGCAGCGAAGCTGCCGC	0.577												
PLXNA4	91584	broad.mit.edu	37	7	131825445	131825445	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:131825445G>A	uc003vra.3	-	30	5580	c.5351C>T	c.(5350-5352)ACG>ATG	p.T1784M	PLXNA4_uc003vqz.3_Missense_Mutation_p.T69M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1784	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GTGCTCTGACGTGGAGCAAGA	0.552												
CALD1	800	broad.mit.edu	37	7	134632353	134632353	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:134632353C>T	uc003vrz.2	+	8	2086	c.1627C>T	c.(1627-1629)CGC>TGC	p.R543C	CALD1_uc003vry.2_Missense_Mutation_p.R288C|CALD1_uc003vsa.2_Missense_Mutation_p.R314C|CALD1_uc003vsb.2_Missense_Mutation_p.R288C|CALD1_uc010lmm.2_Missense_Mutation_p.R314C|CALD1_uc011kpt.1_Missense_Mutation_p.R62C|CALD1_uc003vsc.2_Missense_Mutation_p.R308C|CALD1_uc003vsd.2_Missense_Mutation_p.R282C|CALD1_uc011kpu.1_Missense_Mutation_p.R293C|CALD1_uc011kpv.1_Missense_Mutation_p.R152C|CALD1_uc003vse.2_Missense_Mutation_p.R407C	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	543	Poly-Arg.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						TCGTCGTCGTCGCGGGGAGAC	0.468												
CHRM2	1129	broad.mit.edu	37	7	136700133	136700133	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:136700133G>T	uc003vtf.1	+	4	1144	c.521G>T	c.(520-522)GGG>GTG	p.G174V	CHRM2_uc003vtg.1_Missense_Mutation_p.G174V|CHRM2_uc003vtj.1_Missense_Mutation_p.G174V|CHRM2_uc003vtk.1_Missense_Mutation_p.G174V|CHRM2_uc003vtl.1_Missense_Mutation_p.G174V|CHRM2_uc003vtm.1_Missense_Mutation_p.G174V|CHRM2_uc003vti.1_Missense_Mutation_p.G174V|CHRM2_uc003vto.1_Missense_Mutation_p.G174V|CHRM2_uc003vtn.1_Missense_Mutation_p.G174V|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	174	Extracellular (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTGGAGGATGGGGAGTGCTAC	0.488												
PARP12	64761	broad.mit.edu	37	7	139727098	139727098	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:139727098C>T	uc003vvl.1	-	10	2480	c.1606G>A	c.(1606-1608)GCC>ACC	p.A536T	PARP12_uc003vvk.1_Missense_Mutation_p.A322T|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	536	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					TCCCAGAGGGCCAGGTTCTGT	0.557												
SLC37A3	84255	broad.mit.edu	37	7	140035244	140035244	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:140035244G>A	uc003vvo.2	-	15	1619	c.1453C>T	c.(1453-1455)CTA>TTA	p.L485L	SLC37A3_uc003vvn.2_Silent_p.L63L|SLC37A3_uc003vvp.2_Missense_Mutation_p.A384V|SLC37A3_uc010lnh.2_Silent_p.L469L	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	485					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					TGTCTCCTTAGCACGAGAGAG	0.453												
WEE2	494551	broad.mit.edu	37	7	141416054	141416054	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:141416054G>T	uc003vwn.2	+	3	978	c.572G>T	c.(571-573)GGG>GTG	p.G191V	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	191					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					GGCAAGGGAGGGCTGCCTGCC	0.269												
TRYX3	136541	broad.mit.edu	37	7	141954898	141954898	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:141954898C>A	uc003vxb.2	-	3	733	c.413G>T	c.(412-414)TGG>TTG	p.W138L	TRYX3_uc003vxc.3_Missense_Mutation_p.W138L	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	trypsin X3 precursor	138	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0	Melanoma(164;0.0272)					ATTGTAGCTCCAGGTAGAGAC	0.423												
PDIA4	9601	broad.mit.edu	37	7	148701189	148701189	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:148701189G>A	uc003wff.2	-	10	1917	c.1635C>T	c.(1633-1635)GAC>GAT	p.D545D		NM_004911	NP_004902	P13667	PDIA4_HUMAN	protein disulfide isomerase A4 precursor	545	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			lung(5)|ovary(1)	6	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CGATGAGGACGTCCTTCTTGG	0.567												
ABP1	26	broad.mit.edu	37	7	150553856	150553856	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:150553856G>A	uc003why.1	+	3	4516	c.298G>A	c.(298-300)GTC>ATC	p.V100I	ABP1_uc003whz.1_Missense_Mutation_p.V100I|ABP1_uc003wia.1_Missense_Mutation_p.V100I	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	100					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGCCCGTGCCGTCATCTTCTT	0.582												
ABCB8	11194	broad.mit.edu	37	7	150739135	150739135	+	Missense_Mutation	SNP	C	C	T	rs148191540	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:150739135C>T	uc003wil.3	+	15	1849	c.1756C>T	c.(1756-1758)CGG>TGG	p.R586W	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Missense_Mutation_p.R569W|ABCB8_uc011kvd.1_Missense_Mutation_p.R481W|ABCB8_uc003wim.3_Missense_Mutation_p.R364W|ABCB8_uc003wik.3_Missense_Mutation_p.R569W	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	586	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAGCCGCCCGGGAAGCGAA	0.612												
MNX1	3110	broad.mit.edu	37	7	156798301	156798301	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:156798301G>A	uc003wnd.1	-	3	1422	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G	MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Silent_p.G166G|MNX1_uc003wnc.1_Silent_p.G161G|MNX1_uc010lqr.1_RNA	NM_005515	NP_005506	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1 isoform 1	373					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACGCTGGCGCCGTTGCTGT	0.731									Currarino_syndrome			
CSMD1	64478	broad.mit.edu	37	8	2975988	2975988	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:2975988G>A	uc011kwk.1	-	42	6756	c.6366C>T	c.(6364-6366)GGC>GGT	p.G2122G	CSMD1_uc011kwj.1_Silent_p.G1514G|CSMD1_uc010lrg.2_Silent_p.G190G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2122	Extracellular (Potential).|Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGACAGGATGGCCTATTAGAA	0.458												
TNKS	8658	broad.mit.edu	37	8	9609128	9609128	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:9609128A>G	uc003wss.2	+	19	2847	c.2842A>G	c.(2842-2844)ATC>GTC	p.I948V	TNKS_uc011kww.1_Missense_Mutation_p.I711V|TNKS_uc010lrt.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	948					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		GGCTGACGATATCAGAGCTTT	0.373												
TNKS	8658	broad.mit.edu	37	8	9609186	9609186	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:9609186C>A	uc003wss.2	+	19	2905	c.2900C>A	c.(2899-2901)CCT>CAT	p.P967H	TNKS_uc011kww.1_Missense_Mutation_p.P730H|TNKS_uc010lrt.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	967					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		TGTTTTAAACCTCAGGCTACT	0.488												
PPP3CC	5533	broad.mit.edu	37	8	22355520	22355520	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:22355520C>T	uc003xbs.2	+	4	706	c.379C>T	c.(379-381)CTG>TTG	p.L127L	PPP3CC_uc003xbr.1_Silent_p.L127L|PPP3CC_uc011kzi.1_Silent_p.L127L|PPP3CC_uc003xbt.2_Silent_p.L127L	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	127					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GTAGTGTGTGCTGTATTTATG	0.229												
SORBS3	10174	broad.mit.edu	37	8	22428492	22428492	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:22428492C>T	uc003xbv.2	+	18	1841	c.1501C>T	c.(1501-1503)CGC>TGC	p.R501C	SORBS3_uc003xbw.3_Missense_Mutation_p.R159C	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	501	SH3 2.|Binds to vinculin.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGGCACGGGGCGCCAAGGCAT	0.652												
ENTPD4	9583	broad.mit.edu	37	8	23291937	23291937	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:23291937C>T	uc003xdl.2	-	12	1679	c.1515G>A	c.(1513-1515)TCG>TCA	p.S505S	ENTPD4_uc011kzu.1_Silent_p.S497S|ENTPD4_uc003xdm.2_Silent_p.S497S|ENTPD4_uc011kzv.1_Silent_p.S505S	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	505	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TGACAGGAAACGAAAAGCCCC	0.478												
CHRNA6	8973	broad.mit.edu	37	8	42611903	42611903	+	Missense_Mutation	SNP	T	T	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:42611903T>A	uc003xpj.2	-	5	485	c.439A>T	c.(439-441)ACC>TCC	p.T147S	CHRNA6_uc011lcw.1_Missense_Mutation_p.T132S	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	147	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGAGTCCAGGTTATCATGCCA	0.413												
RGS20	8601	broad.mit.edu	37	8	54859256	54859256	+	Missense_Mutation	SNP	C	C	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:54859256C>G	uc003xrp.2	+	4	783	c.691C>G	c.(691-693)CCC>GCC	p.P231A	RGS20_uc003xrq.2_Missense_Mutation_p.P116A|RGS20_uc010lye.2_Missense_Mutation_p.P23A|RGS20_uc010lyf.2_Intron|RGS20_uc003xrs.2_Missense_Mutation_p.P84A|RGS20_uc003xrt.2_5'UTR	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	231					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AGATCAGAGGCCCACAATAGC	0.393												
TMEM68	137695	broad.mit.edu	37	8	56663707	56663707	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:56663707A>G	uc003xsg.1	-	3	572	c.503T>C	c.(502-504)TTA>TCA	p.L168S	TMEM68_uc003xsh.1_Missense_Mutation_p.L168S	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	transmembrane protein 68	168						integral to membrane	acyltransferase activity			skin(1)	1			Epithelial(17;0.000361)|all cancers(17;0.00326)			ATCCAGTAATAAACTAAACCC	0.348												
PENK	5179	broad.mit.edu	37	8	57358422	57358422	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:57358422C>T	uc003xsz.2	-	1	172	c.91G>A	c.(91-93)GCG>ACG	p.A31T	uc003xtb.1_RNA|PENK_uc003xta.3_Missense_Mutation_p.A31T|PENK_uc010lym.2_Missense_Mutation_p.A31T	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	31					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTGCACGTCGCGCAATCCTGG	0.652												
KCNB2	9312	broad.mit.edu	37	8	73848244	73848244	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:73848244G>A	uc003xzb.2	+	3	1242	c.654G>A	c.(652-654)CTG>CTA	p.L218L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	218					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)			TGCCGGAGCTGCAGGAAACGG	0.478												
E2F5	1875	broad.mit.edu	37	8	86121436	86121436	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:86121436T>C	uc003ycz.3	+	6	712	c.675T>C	c.(673-675)CAT>CAC	p.H225H	E2F5_uc003yda.3_Silent_p.H225H|E2F5_uc010mab.2_Silent_p.H64H|E2F5_uc003ydb.3_Silent_p.H44H	NM_001951	NP_001942	Q15329	E2F5_HUMAN	E2F transcription factor 5 isoform 1	225					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1						GACCTATCCATGTGCTGCTTA	0.408												
TMEM64	169200	broad.mit.edu	37	8	91657390	91657390	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:91657390C>T	uc003yen.2	-	1	744	c.744G>A	c.(742-744)GCG>GCA	p.A248A	TMEM64_uc003yeo.2_Intron|TMEM64_uc011lgf.1_Silent_p.A248A|uc003yep.2_5'Flank	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	transmembrane protein 64 isoform 1	248						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(11;0.0598)			GTCTGGCCAGCGCCACCACTT	0.602											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ABRA	137735	broad.mit.edu	37	8	107781751	107781751	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:107781751T>C	uc003ymm.3	-	1	722	c.668A>G	c.(667-669)CAG>CGG	p.Q223R		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	223					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ATTCACTTACTGGGAGGGCAA	0.577												
CSMD3	114788	broad.mit.edu	37	8	113529286	113529286	+	Missense_Mutation	SNP	T	T	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:113529286T>G	uc003ynu.2	-	28	4892	c.4733A>C	c.(4732-4734)CAG>CCG	p.Q1578P	CSMD3_uc003yns.2_Missense_Mutation_p.Q850P|CSMD3_uc003ynt.2_Missense_Mutation_p.Q1538P|CSMD3_uc011lhx.1_Missense_Mutation_p.Q1474P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1578	Extracellular (Potential).|Sushi 8.					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						TGGGCTGGGCTGCCAGAAGTA	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
WDR67	93594	broad.mit.edu	37	8	124121761	124121761	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:124121761C>T	uc003ypp.1	+	10	1427	c.1337C>T	c.(1336-1338)GCG>GTG	p.A446V	WDR67_uc011lig.1_Missense_Mutation_p.A446V|WDR67_uc011lih.1_Missense_Mutation_p.A336V|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.A159V	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	446	Rab-GAP TBC.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AATCATACTGCGTTTAGTACC	0.378												
DENND3	22898	broad.mit.edu	37	8	142202491	142202491	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:142202491T>C	uc003yvy.2	+	21	3479	c.3201T>C	c.(3199-3201)ATT>ATC	p.I1067I	DENND3_uc010mep.2_Silent_p.I1028I|DENND3_uc003ywa.1_Silent_p.I117I|DENND3_uc003ywb.2_Silent_p.I117I	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1067										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AATTGAAGATTGAGGAGAACT	0.552												
SLC45A4	57210	broad.mit.edu	37	8	142225981	142225981	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:142225981G>A	uc003ywd.1	-	6	1973	c.1665C>T	c.(1663-1665)GCC>GCT	p.A555A	SLC45A4_uc003ywc.1_Silent_p.A555A|SLC45A4_uc010meq.1_Silent_p.A553A	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	606	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGCCATCACGGCTGTGCCGA	0.592												
ZFP41	286128	broad.mit.edu	37	8	144332292	144332292	+	Silent	SNP	G	G	A	rs144267705		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:144332292G>A	uc003yxw.2	+	2	637	c.279G>A	c.(277-279)GGG>GGA	p.G93G	ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog	93	C2H2-type 1.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GTGAGTGTGGGCGGATCTTTA	0.517												
TOP1MT	116447	broad.mit.edu	37	8	144391652	144391652	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:144391652C>T	uc003yxz.2	-	14	1784	c.1765G>A	c.(1765-1767)GCC>ACC	p.A589T	TOP1MT_uc011lkd.1_Missense_Mutation_p.A491T|TOP1MT_uc011lke.1_Missense_Mutation_p.A491T|TOP1MT_uc010mfb.2_Missense_Mutation_p.A491T|TOP1MT_uc011lkf.1_3'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	589					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGAGCCCAGGCGAACCTCTCC	0.517												
PYCRL	65263	broad.mit.edu	37	8	144688646	144688646	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:144688646G>A	uc003yyy.2	-	4	586	c.576C>T	c.(574-576)GGC>GGT	p.G192G	PYCRL_uc011lkm.1_Silent_p.G172G|PYCRL_uc011lkn.1_RNA	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	180					proline biosynthetic process		pyrroline-5-carboxylate reductase activity				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGAAGGCCACGCCACTGCCAC	0.652												
EPPK1	83481	broad.mit.edu	37	8	144940460	144940460	+	Missense_Mutation	SNP	A	A	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:144940460A>C	uc003zaa.1	-	2	14985	c.14972T>G	c.(14971-14973)CTC>CGC	p.L4991R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4991	Plectin 63.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCTGGAAGAGGGAGATCTG	0.706												
PLEC	5339	broad.mit.edu	37	8	145008551	145008551	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:145008551C>A	uc003zaf.1	-	11	1685	c.1515G>T	c.(1513-1515)AAG>AAT	p.K505N	PLEC_uc003zab.1_Missense_Mutation_p.K368N|PLEC_uc003zac.1_Missense_Mutation_p.K372N|PLEC_uc003zad.2_Missense_Mutation_p.K368N|PLEC_uc003zae.1_Missense_Mutation_p.K336N|PLEC_uc003zag.1_Missense_Mutation_p.K346N|PLEC_uc003zah.2_Missense_Mutation_p.K354N|PLEC_uc003zaj.2_Missense_Mutation_p.K395N	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	505	Globular 1.				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						TGCCCCACTCCTTCTCCACAT	0.667												
CPSF1	29894	broad.mit.edu	37	8	145625454	145625454	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:145625454A>G	uc003zcj.2	-	10	1034	c.959T>C	c.(958-960)ATC>ACC	p.I320T	CPSF1_uc003zck.1_Missense_Mutation_p.I270T|CPSF1_uc011lle.1_Missense_Mutation_p.I320T	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	320					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTCCAGGGTGATCCGCACACC	0.577												
DMRT2	10655	broad.mit.edu	37	9	1056568	1056568	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:1056568C>T	uc003zha.2	+	4	1181	c.981C>T	c.(979-981)AGC>AGT	p.S327S	DMRT2_uc003zgx.3_Silent_p.S94S|DMRT2_uc010mgz.2_Silent_p.S94S|DMRT2_uc003zgy.3_Silent_p.S171S|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.S327S	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	327					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CTAATGTCAGCGTGGCCACAA	0.463												
SMARCA2	6595	broad.mit.edu	37	9	2039779	2039779	+	Silent	SNP	G	G	A	rs62639301	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:2039779G>A	uc003zhc.2	+	4	768	c.669G>A	c.(667-669)CAG>CAA	p.Q223Q	SMARCA2_uc003zhd.2_Silent_p.Q223Q|SMARCA2_uc010mha.2_Silent_p.Q214Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	223	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.274												
KCNV2	169522	broad.mit.edu	37	9	2718442	2718442	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:2718442G>A	uc003zho.1	+	1	917	c.703G>A	c.(703-705)GAC>AAC	p.D235N		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	235	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		ACTCTTCCGCGACATGCGCTT	0.687												
RANBP6	26953	broad.mit.edu	37	9	6015587	6015587	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:6015587T>C	uc003zjr.2	-	1	32	c.21A>G	c.(19-21)GCA>GCG	p.A7A	RANBP6_uc011lmf.1_Silent_p.A7A|RANBP6_uc003zjs.2_5'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	7					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CCGGCACCCCTGCAGACGCGG	0.602												
PTPRD	5789	broad.mit.edu	37	9	8485953	8485953	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:8485953G>T	uc003zkk.2	-	27	3575	c.2864C>A	c.(2863-2865)ACC>AAC	p.T955N	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.T946N|PTPRD_uc003zkm.2_Missense_Mutation_p.T942N|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	955	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATAAAGAAGGGTATACTTGGT	0.478										TSP Lung(15;0.13)		
FREM1	158326	broad.mit.edu	37	9	14859191	14859191	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:14859191G>A	uc003zlm.2	-	4	1211	c.621C>T	c.(619-621)TTC>TTT	p.F207F	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	207					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GGGACTCTGGGAAAAAACTGT	0.502												
UNC13B	10497	broad.mit.edu	37	9	35380501	35380501	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:35380501C>T	uc003zwq.2	+	17	2285	c.1993C>T	c.(1993-1995)CGT>TGT	p.R665C	UNC13B_uc003zwr.2_Missense_Mutation_p.R665C	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	665	C2 2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CATTAAGGTGCGTGTATGGGA	0.493												
RUSC2	9853	broad.mit.edu	37	9	35558199	35558199	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:35558199G>T	uc003zww.2	+	7	3321	c.3066G>T	c.(3064-3066)AAG>AAT	p.K1022N	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.K1022N	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1022						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TACAGGCAAAGCTGGGAAACA	0.607												
TRPM3	80036	broad.mit.edu	37	9	73151247	73151247	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:73151247G>A	uc004aid.2	-	25	4990	c.4746C>T	c.(4744-4746)TGC>TGT	p.C1582C	TRPM3_uc004ahu.2_Silent_p.C1424C|TRPM3_uc004ahv.2_Silent_p.C1384C|TRPM3_uc004ahw.2_Silent_p.C1454C|TRPM3_uc004ahx.2_Silent_p.C1441C|TRPM3_uc004ahy.2_Silent_p.C1444C|TRPM3_uc004ahz.2_Silent_p.C1431C|TRPM3_uc004aia.2_Silent_p.C1429C|TRPM3_uc004aib.2_Silent_p.C1419C|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1607	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GCTCTGGATGGCAGCAAGTTA	0.542												
FLJ46321	389763	broad.mit.edu	37	9	84606266	84606266	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:84606266G>A	uc004amn.2	+	4	928	c.881G>A	c.(880-882)CGT>CAT	p.R294H		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	294						integral to membrane					0						TCTTGTGCTCGTCATCACGGA	0.463												
KIF27	55582	broad.mit.edu	37	9	86504110	86504110	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:86504110C>T	uc004ana.2	-	7	2012	c.1868G>A	c.(1867-1869)CGA>CAA	p.R623Q	KIF27_uc010mpw.2_Missense_Mutation_p.R623Q|KIF27_uc010mpx.2_Missense_Mutation_p.R623Q	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	623					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						CATCTGACTTCGTGTTCGAAA	0.428												
AGTPBP1	23287	broad.mit.edu	37	9	88204537	88204537	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:88204537A>G	uc011ltd.1	-	19	2661	c.2628T>C	c.(2626-2628)GAT>GAC	p.D876D	AGTPBP1_uc004aod.3_Silent_p.D502D|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Silent_p.D836D|AGTPBP1_uc011lte.1_Silent_p.D888D	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	876					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						CACATAACACATCTTTCCGAA	0.338												
ZCCHC6	79670	broad.mit.edu	37	9	88967763	88967763	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:88967763G>T	uc004aoq.2	-	2	567	c.352C>A	c.(352-354)CCT>ACT	p.P118T	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.P118T|ZCCHC6_uc004aou.2_Missense_Mutation_p.P118T|ZCCHC6_uc004aov.2_Missense_Mutation_p.P118T|ZCCHC6_uc004aow.2_Missense_Mutation_p.P118T|ZCCHC6_uc010mqf.1_Missense_Mutation_p.P118T	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	118					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						CTAGGTCCAGGTTTGAATTCT	0.423												
ROR2	4920	broad.mit.edu	37	9	94493360	94493360	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:94493360G>A	uc004arj.1	-	7	1214	c.1015C>T	c.(1015-1017)CCG>TCG	p.P339S	ROR2_uc004ari.1_Missense_Mutation_p.P199S|ROR2_uc004ark.2_Missense_Mutation_p.P339S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	339	Extracellular (Potential).|Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						AGGGCCCACGGCTGGCACTGG	0.612												
KIAA1529	57653	broad.mit.edu	37	9	100124717	100124717	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:100124717C>T	uc011lut.1	+	40	5218	c.4445C>T	c.(4444-4446)GCA>GTA	p.A1482V	KIAA1529_uc004axe.1_Missense_Mutation_p.A1277V|KIAA1529_uc004axg.1_Missense_Mutation_p.A1343V|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.A462V	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GCTACCTCTGCAGGCAGGTAG	0.582												
NCBP1	4686	broad.mit.edu	37	9	100416081	100416081	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:100416081T>C	uc004axq.2	+	11	1520	c.1061T>C	c.(1060-1062)GTG>GCG	p.V354A		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	354					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				CTTTTGTAGGTGATCTTTGCA	0.413												
FOXE1	2304	broad.mit.edu	37	9	100617252	100617252	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:100617252C>T	uc004axu.2	+	1	1716	c.1056C>T	c.(1054-1056)GGC>GGT	p.G352G		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	352					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				CCAGTGCAGGCGCCTACCATG	0.647												
INVS	27130	broad.mit.edu	37	9	103035301	103035301	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:103035301G>A	uc004bap.1	+	12	1939	c.1727G>A	c.(1726-1728)CGA>CAA	p.R576Q	INVS_uc010mta.1_Missense_Mutation_p.R480Q|INVS_uc011lve.1_Missense_Mutation_p.R480Q|INVS_uc004bao.1_Missense_Mutation_p.R576Q|INVS_uc004baq.1_Missense_Mutation_p.R480Q|INVS_uc004bar.1_Missense_Mutation_p.R480Q|INVS_uc010mtb.1_Missense_Mutation_p.R250Q	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	576	IQ 1.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				AAAGCCTTCCGAGACAGGAAA	0.488												
ZNF462	58499	broad.mit.edu	37	9	109690581	109690581	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:109690581C>T	uc004bcz.2	+	3	4677	c.4388C>T	c.(4387-4389)CCC>CTC	p.P1463L	ZNF462_uc010mto.2_Missense_Mutation_p.P1311L|ZNF462_uc004bda.2_Missense_Mutation_p.P1311L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1463					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TCAGCCAACCCCGCCATATCC	0.532												
ZNF462	58499	broad.mit.edu	37	9	109773168	109773168	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:109773168A>G	uc004bcz.2	+	13	7667	c.7378A>G	c.(7378-7380)AGT>GGT	p.S2460G	ZNF462_uc010mto.2_Missense_Mutation_p.S2369G|ZNF462_uc004bda.2_Missense_Mutation_p.S2368G|ZNF462_uc011lvz.1_Missense_Mutation_p.S417G|uc004bdc.1_Intron	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2460					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CATGGAGAACAGTGTTAAAAT	0.423												
KIAA1958	158405	broad.mit.edu	37	9	115422066	115422066	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:115422066G>A	uc004bgf.1	+	4	2043	c.1868G>A	c.(1867-1869)CGG>CAG	p.R623Q	KIAA1958_uc011lwx.1_Missense_Mutation_p.R651Q	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	623										skin(1)	1						GAGCATTCCCGGGGACACAAA	0.592												
COL27A1	85301	broad.mit.edu	37	9	117063971	117063971	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:117063971G>A	uc011lxl.1	+	55	4819	c.4819G>A	c.(4819-4821)GGC>AGC	p.G1607S	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1607	Pro-rich.|Collagen-like 16.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GGGTCCTCCCGGCCCCAGAGG	0.632												
COL27A1	85301	broad.mit.edu	37	9	117066886	117066886	+	Splice_Site	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:117066886A>G	uc011lxl.1	+	57	4873	c.4873_splice	c.e57-2	p.Q1625_splice	COL27A1_uc004bii.2_Splice_Site|COL27A1_uc011lxn.1_5'Flank	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor						cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TTCCTTGCCCAGCAACAAGAT	0.597												
TNC	3371	broad.mit.edu	37	9	117848730	117848730	+	Missense_Mutation	SNP	T	T	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:117848730T>G	uc004bjj.3	-	3	1642	c.1280A>C	c.(1279-1281)GAG>GCG	p.E427A	TNC_uc010mvf.2_Missense_Mutation_p.E427A	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	427	EGF-like 9.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						AGTATAGCCCTCATCACACAC	0.577												
ASTN2	23245	broad.mit.edu	37	9	119382591	119382591	+	Silent	SNP	C	C	T	rs111633658	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:119382591C>T	uc004bjs.1	-	18	3305	c.3204G>A	c.(3202-3204)CCG>CCA	p.P1068P	ASTN2_uc004bjr.1_Silent_p.P1064P|ASTN2_uc004bjt.1_Silent_p.P1017P|ASTN2_uc004bjp.1_Silent_p.P161P|ASTN2_uc004bjq.1_Silent_p.P120P|ASTN2_uc011lxr.1_Silent_p.P120P|ASTN2_uc011lxs.1_Silent_p.P120P|ASTN2_uc011lxt.1_Silent_p.P120P|ASTN2_uc004bjv.1_Silent_p.P120P	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1068	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						ATACGTACACCGGCTGCAGAA	0.582												
OR1J4	26219	broad.mit.edu	37	9	125282057	125282057	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:125282057G>A	uc011lyw.1	+	1	638	c.638G>A	c.(637-639)TGC>TAC	p.C213Y		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCACTAATATGCATCTTGATC	0.483												
SH2D3C	10044	broad.mit.edu	37	9	130536608	130536608	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:130536608G>A	uc004bsc.2	-	2	318	c.176C>T	c.(175-177)ACG>ATG	p.T59M	SH2D3C_uc004bsa.2_5'Flank|SH2D3C_uc004bsb.2_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.T3M	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	59					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						CTTGGGCACCGTCACCATGTC	0.577												
FAM102A	399665	broad.mit.edu	37	9	130707096	130707096	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:130707096G>A	uc004bsx.1	-	9	1078	c.999C>T	c.(997-999)ATC>ATT	p.I333I	FAM102A_uc004bsw.1_Silent_p.I191I|FAM102A_uc004bsy.1_Silent_p.I61I	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	333										ovary(1)	1						GGCTCTGCACGATCTTCTCCA	0.672												
CIZ1	25792	broad.mit.edu	37	9	130932369	130932369	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:130932369C>T	uc004btt.2	-	12	2124	c.1961G>A	c.(1960-1962)CGC>CAC	p.R654H	CIZ1_uc004btr.2_Missense_Mutation_p.R626H|CIZ1_uc004bts.2_Missense_Mutation_p.R625H|CIZ1_uc011maq.1_Missense_Mutation_p.R593H|CIZ1_uc004btu.2_Missense_Mutation_p.R574H|CIZ1_uc011mar.1_Missense_Mutation_p.R553H|CIZ1_uc011mas.1_Missense_Mutation_p.R684H|CIZ1_uc004btw.2_Missense_Mutation_p.R598H|CIZ1_uc004btv.2_Missense_Mutation_p.R654H	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	654						nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						GTTGCACCAGCGCCTTGGTGG	0.532												
GLE1	2733	broad.mit.edu	37	9	131287597	131287597	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:131287597G>A	uc004bvj.2	+	7	1138	c.1024G>A	c.(1024-1026)GAA>AAA	p.E342K	GLE1_uc004bvi.2_Missense_Mutation_p.E342K|GLE1_uc010myd.2_Missense_Mutation_p.E88K	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator homolog isoform 1	342	Potential.				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding				0						GCAGGATGAAGAAGAGGCCCA	0.607												
SPTAN1	6709	broad.mit.edu	37	9	131353800	131353800	+	Silent	SNP	G	G	A	rs140279996	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:131353800G>A	uc004bvl.3	+	22	3164	c.3051G>A	c.(3049-3051)CCG>CCA	p.P1017P	SPTAN1_uc011mbg.1_Silent_p.P1017P|SPTAN1_uc011mbh.1_Silent_p.P1029P|SPTAN1_uc004bvm.3_Silent_p.P1017P|SPTAN1_uc004bvn.3_Silent_p.P1017P	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1017	SH3.		P -> S (in a breast cancer sample; somatic mutation).		actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.P1017S(1)		breast(5)|ovary(4)|pancreas(1)	10						GTTTTGTGCCGGCTGCGTACG	0.527												
CEL	1056	broad.mit.edu	37	9	135942250	135942250	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:135942250T>C	uc010naa.1	+	6	720	c.704T>C	c.(703-705)CTC>CCC	p.L235P		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	232					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		AACAAGGGCCTCATCCGGCGA	0.632												
RALGDS	5900	broad.mit.edu	37	9	135978616	135978616	+	Splice_Site	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:135978616C>T	uc004cco.2	-	12	1811	c.1791_splice	c.e12+1	p.K597_splice	RALGDS_uc004ccn.2_5'Flank|RALGDS_uc004ccp.2_Splice_Site|RALGDS_uc004ccq.2_Splice_Site_p.K585_splice|RALGDS_uc004ccr.2_Splice_Site_p.K596_splice|RALGDS_uc011mcv.1_Splice_Site_p.K568_splice|RALGDS_uc004ccs.2_Splice_Site_p.K542_splice|RALGDS_uc011mcw.1_Splice_Site_p.K668_splice|RALGDS_uc004ccv.1_Splice_Site_p.K366_splice|RALGDS_uc004ccu.1_Splice_Site_p.K366_splice	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator						nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CAGCTGCTTACCTTCCTCCTC	0.537			T	CIITA	PMBL|Hodgkin Lymphona|						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OBP2B	29989	broad.mit.edu	37	9	136082718	136082718	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:136082718C>T	uc004ccz.2	-	4	325	c.283G>A	c.(283-285)GGC>AGC	p.G95S	OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Missense_Mutation_p.G27S	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B precursor	95					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		AGCTTCCTGCCCCCATCTGTA	0.552												
CAMSAP1	157922	broad.mit.edu	37	9	138713203	138713203	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:138713203C>T	uc004cgr.3	-	11	3304	c.3304G>A	c.(3304-3306)GGA>AGA	p.G1102R	CAMSAP1_uc004cgq.3_Missense_Mutation_p.G992R|CAMSAP1_uc010nbg.2_Missense_Mutation_p.G824R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1102						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCCGGCCTTCCGGAACGGGAA	0.647												
NOTCH1	4851	broad.mit.edu	37	9	139409965	139409965	+	Missense_Mutation	SNP	A	A	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:139409965A>C	uc004chz.2	-	11	1873	c.1873T>G	c.(1873-1875)TAC>GAC	p.Y625D	NOTCH1_uc004cia.1_5'Flank	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	625	Extracellular (Potential).|EGF-like 16; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AAGCAGAGGTAGGCGTTGTCG	0.721			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
CLIC3	9022	broad.mit.edu	37	9	139889995	139889995	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:139889995G>A	uc004ckj.1	-	3	197	c.168C>T	c.(166-168)TTC>TTT	p.F56F		NM_004669	NP_004660	O95833	CLIC3_HUMAN	chloride intracellular channel 3	56	GST N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGCCGGGGGCGAAGTCCTTCA	0.706												
FAM166A	401565	broad.mit.edu	37	9	140140301	140140301	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:140140301C>T	uc004cmi.1	-	2	116	c.61G>A	c.(61-63)GCC>ACC	p.A21T		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	21										ovary(1)	1						AAGAAGCCGGCATAGCTGTGG	0.552												
MXRA5	25878	broad.mit.edu	37	X	3235466	3235466	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:3235466C>T	uc004crg.3	-	6	6413	c.6256G>A	c.(6256-6258)GGT>AGT	p.G2086S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2086	Ig-like C2-type 5.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATCTGGGTACCGTCCCCGAGC	0.652												
TBL1X	6907	broad.mit.edu	37	X	9677345	9677345	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:9677345G>A	uc010ndq.2	+	14	1662	c.1294G>A	c.(1294-1296)GAT>AAT	p.D432N	TBL1X_uc004csq.3_Missense_Mutation_p.D381N|TBL1X_uc010ndr.2_Missense_Mutation_p.D381N|TBL1X_uc004csr.2_Missense_Mutation_p.D432N|TBL1X_uc004css.2_Missense_Mutation_p.D383N	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	432	WD 5.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				ATCCTGCTCGGATGACATGAC	0.517											OREG0019658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CLCN4	1183	broad.mit.edu	37	X	10180666	10180666	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:10180666G>A	uc004csy.3	+	10	1979	c.1549G>A	c.(1549-1551)GCA>ACA	p.A517T	CLCN4_uc011mid.1_Missense_Mutation_p.A423T	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	517						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						AGGGCTGTACGCAATGGTGGG	0.612												
MID1	4281	broad.mit.edu	37	X	10427780	10427780	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:10427780G>A	uc004cte.3	-	8	1544	c.1353C>T	c.(1351-1353)CAC>CAT	p.H451H	MID1_uc004ctd.3_Silent_p.H162H|MID1_uc004ctg.3_Silent_p.H451H|MID1_uc004cth.3_Silent_p.H413H|MID1_uc004ctk.3_Silent_p.H451H|MID1_uc004cti.3_Silent_p.H451H|MID1_uc004ctj.3_Silent_p.H451H|MID1_uc011mie.1_RNA|MID1_uc004csz.3_Silent_p.H123H|MID1_uc004cta.3_Silent_p.H207H|MID1_uc004ctb.3_Silent_p.H111H|MID1_uc004ctc.3_Silent_p.H218H	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	451	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3						TCTGCAGACCGTGCACCGTGT	0.517												
FRMPD4	9758	broad.mit.edu	37	X	12734822	12734822	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:12734822G>A	uc004cuz.1	+	15	2750	c.2244G>A	c.(2242-2244)GCG>GCA	p.A748A	FRMPD4_uc011mij.1_Silent_p.A740A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	748					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						CTGATGACGCGGAGGACGAGG	0.562												
OFD1	8481	broad.mit.edu	37	X	13778670	13778670	+	Silent	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:13778670T>C	uc004cvp.3	+	16	2450	c.2091T>C	c.(2089-2091)GTT>GTC	p.V697V	OFD1_uc004cvr.3_Silent_p.V264V|OFD1_uc011mil.1_Silent_p.V264V|OFD1_uc004cvq.3_Silent_p.V557V|OFD1_uc010nen.2_Silent_p.V696V|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Silent_p.V656V|OFD1_uc004cvv.3_Silent_p.V656V	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	697	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						AGGACAGAGTTGTCTCTGAGC	0.532												
ASB9	140462	broad.mit.edu	37	X	15287958	15287958	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:15287958G>A	uc004cwl.2	-	1	286	c.39C>T	c.(37-39)CCC>CCT	p.P13P	ASB9_uc004cwk.2_Silent_p.P13P|ASB9_uc004cwm.2_Silent_p.P13P|ASB9_uc010ner.2_Silent_p.P13P|ASB9_uc004cwn.2_Silent_p.P13P	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box-containing 9 isoform	13					intracellular signal transduction						0	Hepatocellular(33;0.183)					TTGGCCCCGCGGGCTTGCTCC	0.567												
POLA1	5422	broad.mit.edu	37	X	24734570	24734570	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:24734570C>T	uc004dbl.2	+	7	622	c.599C>T	c.(598-600)ACG>ATG	p.T200M	POLA1_uc004dbm.2_Missense_Mutation_p.T206M|POLA1_uc004dbn.2_Missense_Mutation_p.T64M	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	200					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	CACACCGCCACGGTAAAGTGT	0.368												
DDX3X	1654	broad.mit.edu	37	X	41205860	41205860	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:41205860C>T	uc004dfe.2	+	14	2455	c.1600C>T	c.(1600-1602)CGT>TGT	p.R534C	DDX3X_uc004dff.2_Missense_Mutation_p.R534C|DDX3X_uc011mkq.1_Missense_Mutation_p.R518C|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	534	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TCGTACGGGACGTGTAGGAAA	0.363										HNSCC(61;0.18)		
CDK16	5127	broad.mit.edu	37	X	47085981	47085981	+	Splice_Site	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:47085981G>T	uc004dho.2	+	10	1313	c.917_splice	c.e10-1	p.G306_splice	CDK16_uc011mli.1_Splice_Site_p.G312_splice|CDK16_uc011mlj.1_3'UTR|CDK16_uc011mlk.1_Splice_Site_p.G306_splice|CDK16_uc011mll.1_Splice_Site_p.G380_splice	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1								ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						CTGATTTCCAGGCCTGGCCCG	0.547												
USP11	8237	broad.mit.edu	37	X	47100030	47100030	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:47100030C>T	uc004dhp.2	+	6	855	c.855C>T	c.(853-855)AGC>AGT	p.S285S	USP11_uc004dhq.2_Silent_p.S12S	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	285					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CTTGGCCCAGCGCACAGCTGC	0.527												
WDR13	64743	broad.mit.edu	37	X	48457775	48457775	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:48457775G>A	uc004dkh.1	+	4	464	c.317G>A	c.(316-318)CGT>CAT	p.R106H	WDR13_uc010nif.1_Translation_Start_Site|WDR13_uc004dki.1_Missense_Mutation_p.R14H|WDR13_uc004dkj.1_Missense_Mutation_p.R106H|WDR13_uc004dkk.1_Missense_Mutation_p.R14H|WDR13_uc004dkl.3_Missense_Mutation_p.R14H|WDR13_uc011mme.1_Translation_Start_Site	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	106						cytoplasm|nucleus				ovary(2)	2						CTGGGGGCCCGTGGGCACCGT	0.607												
HDAC6	10013	broad.mit.edu	37	X	48674585	48674585	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:48674585A>G	uc011mmi.1	+	18	1626	c.1531A>G	c.(1531-1533)ATG>GTG	p.M511V	HDAC6_uc004dks.1_Missense_Mutation_p.M511V|HDAC6_uc010nig.1_Missense_Mutation_p.M359V|HDAC6_uc004dkt.1_Missense_Mutation_p.M511V|HDAC6_uc011mmk.1_Missense_Mutation_p.M492V|HDAC6_uc004dkv.1_Missense_Mutation_p.M159V|HDAC6_uc004dkw.1_Missense_Mutation_p.M159V	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	511	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	CTTGCGGATCATGTGCCGTCT	0.652												
KCND1	3750	broad.mit.edu	37	X	48826158	48826158	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:48826158C>T	uc004dlx.1	-	1	2094	c.521G>A	c.(520-522)CGG>CAG	p.R174Q	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	174	Cytoplasmic (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						CTCGAAGGCCCGCCAGAGCCG	0.652												
DGKK	139189	broad.mit.edu	37	X	50129458	50129458	+	Missense_Mutation	SNP	T	T	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:50129458T>C	uc010njr.1	-	15	2305	c.2245A>G	c.(2245-2247)ATT>GTT	p.I749V		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	749					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					ATTTGAGGAATGAAGGGCTTC	0.468												
HUWE1	10075	broad.mit.edu	37	X	53562434	53562434	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:53562434C>T	uc004dsp.2	-	81	12962	c.12560G>A	c.(12559-12561)CGT>CAT	p.R4187H	HUWE1_uc004dsn.2_Missense_Mutation_p.R2995H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	4187	HECT.		R -> C (in MRXS-Turner).		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						TTTGAGGTCACGAACTTCACA	0.433												
PHF8	23133	broad.mit.edu	37	X	54028591	54028591	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:54028591G>A	uc004dsu.2	-	10	1319	c.1246C>T	c.(1246-1248)CGC>TGC	p.R416C	PHF8_uc004dst.2_Missense_Mutation_p.R380C|PHF8_uc004dsv.2_Missense_Mutation_p.R246C|PHF8_uc004dsw.2_Missense_Mutation_p.R380C|PHF8_uc004dsx.2_Missense_Mutation_p.R144C|PHF8_uc004dsy.2_Missense_Mutation_p.R380C	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	416					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						TCCATACCGCGAAAGATGTCC	0.478												
STARD8	9754	broad.mit.edu	37	X	67940852	67940852	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:67940852C>T	uc004dxa.2	+	8	2268	c.1896C>T	c.(1894-1896)TAC>TAT	p.Y632Y	STARD8_uc004dxb.2_Silent_p.Y712Y|STARD8_uc004dxc.3_Silent_p.Y632Y	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	632	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						ATGTCTGCTACGAGGGCCAGT	0.562												
PJA1	64219	broad.mit.edu	37	X	68382735	68382735	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:68382735C>A	uc004dxh.2	-	2	633	c.347G>T	c.(346-348)GGA>GTA	p.G116V	PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Missense_Mutation_p.G61V	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	116							zinc ion binding				0						GTCAATATGTCCATAGGCCAT	0.498												
FOXO4	4303	broad.mit.edu	37	X	70321310	70321310	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:70321310G>A	uc004dys.1	+	2	1583	c.1230G>A	c.(1228-1230)ACG>ACA	p.T410T	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Silent_p.T355T	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	410					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					AGCTGGCCACGGGCGTCGGCC	0.622												
UPRT	139596	broad.mit.edu	37	X	74520740	74520740	+	Missense_Mutation	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:74520740A>G	uc004ecb.1	+	6	892	c.763A>G	c.(763-765)ATA>GTA	p.I255V	UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.I255V|UPRT_uc004ece.1_Missense_Mutation_p.I119V	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	255					nucleoside metabolic process	cytoplasm|nucleus					0						AAAGGTTCTTATAGAACATGG	0.373												
XKRX	402415	broad.mit.edu	37	X	100183206	100183206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:100183206G>A	uc004egn.2	-	1	693	c.88C>T	c.(88-90)CGA>TGA	p.R30*	XKRX_uc011mre.1_5'UTR	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	30						integral to membrane|plasma membrane				breast(1)	1						AAAGTAAATCGGGGGTTGGCT	0.443												
ARMCX5	64860	broad.mit.edu	37	X	101858244	101858244	+	Missense_Mutation	SNP	A	A	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:101858244A>T	uc004ejg.2	+	6	2056	c.1175A>T	c.(1174-1176)TAT>TTT	p.Y392F	ARMCX5_uc004ejh.2_Missense_Mutation_p.Y392F	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	392							binding			ovary(1)	1						GGGGAGTCATATATACATCAA	0.418												
BEX1	55859	broad.mit.edu	37	X	102317840	102317840	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:102317840A>G	uc004ejt.1	-	3	603	c.363T>C	c.(361-363)TTT>TTC	p.F121F		NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	121					cell differentiation|nervous system development	cytoplasm|nucleus				ovary(1)	1						GCATAAGGCAAAACTCATCAT	0.473												
NXF3	56000	broad.mit.edu	37	X	102334165	102334165	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:102334165G>A	uc004eju.2	-	16	1433	c.1362C>T	c.(1360-1362)AAC>AAT	p.N454N	NXF3_uc010noi.1_Silent_p.N304N	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	454	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TGAACACCCCGTTGACAGAAA	0.582												
TBC1D8B	54885	broad.mit.edu	37	X	106109220	106109220	+	Silent	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:106109220C>T	uc004emo.2	+	16	2784	c.2619C>T	c.(2617-2619)AAC>AAT	p.N873N	MORC4_uc004emp.3_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	873	EF-hand.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TAGATGAAAACTCTGATTGCC	0.373												
ALG13	79868	broad.mit.edu	37	X	110951472	110951472	+	Missense_Mutation	SNP	C	C	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:110951472C>A	uc011msy.1	+	4	635	c.601C>A	c.(601-603)CTG>ATG	p.L201M	ALG13_uc011msw.1_Missense_Mutation_p.L123M|ALG13_uc011msx.1_Missense_Mutation_p.L97M|ALG13_uc011msz.1_Missense_Mutation_p.L123M|ALG13_uc011mta.1_Missense_Mutation_p.L97M|ALG13_uc011mtb.1_Missense_Mutation_p.L97M			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	201					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						TACCCCCACCCTGTACAAAAT	0.458												
LONRF3	79836	broad.mit.edu	37	X	118109314	118109314	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:118109314C>T	uc004eqw.2	+	1	602	c.571C>T	c.(571-573)CGC>TGC	p.R191C	LONRF3_uc004eqx.2_Missense_Mutation_p.R191C|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_5'Flank	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	191	RING-type 1.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2						CGCCGACCGGCGCTGTGCGCT	0.692												
FMR1	2332	broad.mit.edu	37	X	147030286	147030286	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:147030286G>A	uc010nst.2	+	17	2010	c.1821G>A	c.(1819-1821)ACG>ACA	p.T607T	FMR1_uc004fcj.2_Silent_p.T567T|FMR1_uc004fck.3_Silent_p.T561T|FMR1_uc004fcl.3_Silent_p.T447T|FMR1_uc011mxa.1_Silent_p.T237T	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	607	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGCGCACGGGTAAAGATC	0.428									Fragile_X_syndrome			
MAGEA4	4103	broad.mit.edu	37	X	151092867	151092867	+	Missense_Mutation	SNP	G	G	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:151092867G>T	uc004fez.2	+	3	887	c.731G>T	c.(730-732)AGG>ATG	p.R244M	MAGEA4_uc004ffa.2_Missense_Mutation_p.R244M|MAGEA4_uc004ffb.2_Missense_Mutation_p.R244M|MAGEA4_uc004ffc.2_Missense_Mutation_p.R244M|MAGEA4_uc004ffd.2_Missense_Mutation_p.R244M	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	244	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGCCCAGGAAACTGCTC	0.592												
MAGEA3	4102	broad.mit.edu	37	X	151935285	151935285	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:151935285A>G	uc004fgp.2	-	3	1091	c.882T>C	c.(880-882)AGT>AGC	p.S294S		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	294	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTCCTCCACTGATCTTTA	0.552												
PLXNB3	5365	broad.mit.edu	37	X	153040418	153040418	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153040418C>T	uc004fii.2	+	24	4189	c.4015C>T	c.(4015-4017)CGC>TGC	p.R1339C	PLXNB3_uc010nuk.2_Missense_Mutation_p.R1362C|PLXNB3_uc011mzd.1_Missense_Mutation_p.R978C|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1339	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTACGCCGAGCGCGCCTTCTT	0.701												
L1CAM	3897	broad.mit.edu	37	X	153128280	153128280	+	Silent	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153128280A>G	uc004fjb.2	-	28	3720	c.3612T>C	c.(3610-3612)AGT>AGC	p.S1204S	L1CAM_uc004fjc.2_Silent_p.S1200S|L1CAM_uc010nuo.2_Silent_p.S1195S	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1204	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGTCGTCACTGCCCAGGG	0.597												
L1CAM	3897	broad.mit.edu	37	X	153135593	153135593	+	Silent	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153135593G>A	uc004fjb.2	-	8	1017	c.909C>T	c.(907-909)GGC>GGT	p.G303G	L1CAM_uc004fjc.2_Silent_p.G303G|L1CAM_uc010nuo.2_Silent_p.G298G|L1CAM_uc004fjd.1_Silent_p.G117G|L1CAM_uc004fje.1_Silent_p.G298G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	303	Extracellular (Potential).|Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCCTCCTCGCCCACTTTCA	0.632												
AVPR2	554	broad.mit.edu	37	X	153171222	153171222	+	Missense_Mutation	SNP	G	G	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153171222G>A	uc004fjh.3	+	2	333	c.262G>A	c.(262-264)GTG>ATG	p.V88M	AVPR2_uc004fjg.3_Intron|AVPR2_uc004fji.2_Missense_Mutation_p.V88M	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	88	Helical; Name=2; (Potential).		V -> M (in XNDI).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGACCTGGCCGTGGCTCTGTT	0.677												
ARHGAP4	393	broad.mit.edu	37	X	153175255	153175255	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153175255C>T	uc004fjk.1	-	19	2396	c.2354G>A	c.(2353-2355)CGG>CAG	p.R785Q	ARHGAP4_uc004fjj.1_Missense_Mutation_p.R136Q|ARHGAP4_uc011mzf.1_Missense_Mutation_p.R762Q|ARHGAP4_uc004fjl.1_Missense_Mutation_p.R825Q|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	785	SH3.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTCCCCCCGCCACCAGTC	0.711												
HCFC1	3054	broad.mit.edu	37	X	153227068	153227068	+	Missense_Mutation	SNP	C	C	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153227068C>T	uc004fjp.2	-	6	1357	c.829G>A	c.(829-831)GTC>ATC	p.V277I		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	277	Kelch 5.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATCCATGACGAGAGGCACC	0.562												
IRAK1	3654	broad.mit.edu	37	X	153282398	153282398	+	Splice_Site	SNP	A	A	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153282398A>G	uc004fjs.1	-	8	1107	c.1028_splice	c.e8+1	p.S343_splice	IRAK1_uc004fjr.1_Splice_Site_p.S343_splice|IRAK1_uc004fjt.1_Splice_Site_p.S343_splice|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Splice_Site_p.S369_splice	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1						activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCCTCCTCACCTCTTGATG	0.622												
PLXNA3	55558	broad.mit.edu	37	X	153691782	153691782	+	Missense_Mutation	SNP	G	G	A	rs143738443		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153691782G>A	uc004flm.2	+	5	1539	c.1366G>A	c.(1366-1368)GTG>ATG	p.V456M		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	456	Sema.|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)					GACAGTCCCCGTGGTGGATGG	0.637												
RBL2	5934	broad.mit.edu	37	16	53513902	53513905	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:53513902_53513905delAAGT	uc002ehi.3	+	19	2999	c.2881_splice	c.e19+1	p.T961_splice	RBL2_uc002ehj.2_Splice_Site_p.T671_splice|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)						cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						ACAAAGATAGAAGTAAGTGGGATC	0.328												
GABRD	2563	broad.mit.edu	37	1	1956774	1956775	+	Splice_Site	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:1956773_1956774G>GC	uc001aip.2	+	3	277	c.182_splice	c.e3-1	p.G61_splice		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	61						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.V64fs*365(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TTCCTTGCAGGCCCCCCCGTGA	0.644												
MECOM	2122	broad.mit.edu	37	3	168818750	168818751	+	Splice_Site	DEL	TC	TC	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:168818749_168818750ATC>A	uc011bpj.1	-	12	3175	c.2772_splice	c.e12-1	p.R924_splice	MECOM_uc010hwk.1_Splice_Site_p.R750_splice|MECOM_uc003ffj.3_Splice_Site_p.R801_splice|MECOM_uc003ffi.3_Splice_Site_p.R736_splice|MECOM_uc011bpi.1_Splice_Site_p.R728_splice|MECOM_uc003ffn.3_Splice_Site_p.R736_splice|MECOM_uc003ffk.2_Splice_Site_p.R727_splice|MECOM_uc003ffl.2_Splice_Site_p.R887_splice|MECOM_uc011bpk.1_Splice_Site_p.R736_splice	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGCCACAGTATCTGTTATGAA	0.401												
KIN	22944	broad.mit.edu	37	10	7817765	7817765	+	Splice_Site	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318												
USP54	159195	broad.mit.edu	37	10	75290284	75290284	+	Splice_Site	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:75290283_75290283TA>T	uc001juo.3	-	12	1465	c.1448_splice	c.e12-1	p.G483_splice	USP54_uc001juk.3_Splice_Site|USP54_uc001jul.3_Splice_Site|USP54_uc001jum.3_Splice_Site|USP54_uc001jun.3_Splice_Site|USP54_uc001jup.3_Splice_Site_p.G483_splice|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Splice_Site_p.G483_splice	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	483					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTGTTTCTCCTAAAAACACAA	0.398												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013286	+	Splice_Site	INS	-	-	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:57013284_57013285C>CT	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGGA	0.297												
COL4A6	1288	broad.mit.edu	37	X	107462975	107462975	+	Splice_Site	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:107462974_107462974TA>T	uc004enw.4	-	5	386	c.283_splice	c.e5-1	p.G95_splice	COL4A6_uc004env.4_Splice_Site_p.G94_splice|COL4A6_uc011msn.2_Splice_Site_p.G94_splice|COL4A6_uc010npk.3_Splice_Site_p.G94_splice	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	95	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CATGGGACCCTAAAAAAAGGA	0.423									Alport syndrome with Diffuse Leiomyomatosis			
PIK3R3	8503	broad.mit.edu	37	1	46511600	46511600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:46511600delA	uc001cpb.3	-	9	1933	c.1177delT	c.(1177-1179)TGCfs	p.C393fs	PIK3R3_uc009vyb.2_Frame_Shift_Del_p.C334fs|PIK3R3_uc009vyc.2_Frame_Shift_Del_p.C410fs|PIK3R3_uc001cpc.3_Frame_Shift_Del_p.C393fs|PIK3R3_uc010olw.1_Frame_Shift_Del_p.C439fs|PIK3R3_uc010olv.1_Frame_Shift_Del_p.C183fs	NM_003629	NP_003620	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3	393	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					ACCACAGAGCAAGCATAGCAT	0.368												
IGSF9	57549	broad.mit.edu	37	1	159898247	159898247	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:159898247delG	uc001fur.2	-	19	3129	c.2931delC	c.(2929-2931)CCCfs	p.P977fs	IGSF9_uc001fuq.2_Frame_Shift_Del_p.P961fs|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Frame_Shift_Del_p.P123fs	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	977	Pro-rich.|Cytoplasmic (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGATTCCCTGGGGGATACAG	0.627												
PIGM	93183	broad.mit.edu	37	1	160000584	160000584	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:160000584delA	uc001fuv.1	-	1	1200	c.946delT	c.(946-948)TGTfs	p.C316fs		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	316	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAAAACAACAAAAAACGAGG	0.443												
ANGPTL1	9068	broad.mit.edu	37	1	178834299	178834299	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:178834299delA	uc001gma.2	-	3	1089	c.613delT	c.(613-615)TCCfs	p.S205fs	RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Frame_Shift_Del_p.S205fs|ANGPTL1_uc010pnc.1_Frame_Shift_Del_p.S127fs	NM_004673	NP_004664	O95841	ANGL1_HUMAN	angiopoietin-like 1 precursor	205						extracellular space	receptor binding				0						TCTTGTCGGGAAAATATCCTC	0.463												
CCDC3	83643	broad.mit.edu	37	10	13043355	13043356	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:13043355_13043356insC	uc001ilq.1	-	1	349_350	c.215_216insG	c.(214-216)GGCfs	p.G72fs	CCDC3_uc009xjb.1_Intron|CCDC3_uc001ilr.2_Intron|CCDC3_uc009xjc.1_Intron	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3 precursor	72						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			AGTAGAAGAGGCCCCCCTGGCC	0.713												
VIM	7431	broad.mit.edu	37	10	17271730	17271731	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:17271730_17271731insA	uc001iou.2	+	2	722_723	c.309_310insA	c.(307-312)GAGAAGfs	p.E103fs	uc001iot.1_RNA|VIM_uc001iov.1_Frame_Shift_Ins_p.E103fs|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Frame_Shift_Ins_p.E103fs|VIM_uc001ioy.1_Frame_Shift_Ins_p.E103fs|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Frame_Shift_Ins_p.E103fs|VIM_uc001ipc.1_Frame_Shift_Ins_p.E103fs	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	103_104	Rod.|Coil 1A.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GCACCAACGAGAAGGTGGAGCT	0.619												
IDE	3416	broad.mit.edu	37	10	94297296	94297296	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:94297296delT	uc001kia.2	-	2	186	c.110delA	c.(109-111)AAGfs	p.K37fs		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	37					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTGTAAGTCTTTTTTTGGAA	0.343												
ZRANB1	54764	broad.mit.edu	37	10	126631810	126631810	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:126631810delA	uc001lic.2	+	1	1119	c.748delA	c.(748-750)AAAfs	p.K250fs	ZRANB1_uc010qug.1_Frame_Shift_Del_p.K276fs	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	250					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AGTAGACTTTAAAAAACTAAA	0.413												
ARHGEF17	9828	broad.mit.edu	37	11	73020197	73020197	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:73020197delC	uc001otu.2	+	1	535	c.514delC	c.(514-516)CCCfs	p.P172fs		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	172					actin cytoskeleton organization|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				0						ACCGACGCCACCCCCTCGGAC	0.751												
DYNC2H1	79659	broad.mit.edu	37	11	103349968	103349969	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:103349968_103349969insA	uc001pho.2	+	89	13055_13056	c.12911_12912insA	c.(12910-12912)CTAfs	p.L4304fs	DYNC2H1_uc001phn.1_Frame_Shift_Ins_p.L4311fs|DYNC2H1_uc009yxe.1_Frame_Shift_Ins_p.L917fs	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4304					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTCTATTCCTAAAAAATCAGT	0.391												
UHRF1BP1L	23074	broad.mit.edu	37	12	100452511	100452512	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:100452511_100452512insA	uc001tgq.2	-	14	2772_2773	c.2543_2544insT	c.(2542-2544)GTAfs	p.V848fs	UHRF1BP1L_uc001tgp.2_Frame_Shift_Ins_p.V498fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	848										ovary(2)	2						GACTGCCAGTTACAGCTTCTAC	0.411												
ARL6IP4	51329	broad.mit.edu	37	12	123466124	123466126	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:123466124_123466126delCTT	uc001ued.2	+	3	591_593	c.536_538delCTT	c.(535-540)CCTTCT>CCT	p.S180del	ARL6IP4_uc001uec.2_Intron|ARL6IP4_uc001uee.2_Intron|ARL6IP4_uc001uef.2_Intron|ARL6IP4_uc001ueg.2_Intron|ARL6IP4_uc009zxt.2_In_Frame_Del_p.S46del|ARL6IP4_uc001ueh.2_Intron|ARL6IP4_uc001uei.2_Intron	NM_018694	NP_061164	Q66PJ3	AR6P4_HUMAN	SRp25 nuclear protein isoform 1	180	Ser-rich.				RNA splicing	nucleus					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		CCAGCCTCACCTTCTCCCTGCAT	0.483												
FBXL3	26224	broad.mit.edu	37	13	77581488	77581488	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:77581488delT	uc001vkd.2	-	5	1450	c.1079delA	c.(1078-1080)AATfs	p.N360fs		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	360	LRR 6.				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		AGCTGACAAATTTTTGCAACG	0.433												
ARHGAP5	394	broad.mit.edu	37	14	32560445	32560445	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:32560445delA	uc001wrl.2	+	2	809	c.570delA	c.(568-570)TCAfs	p.S190fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.S190fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.S190fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	190					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATCAAAATCAAAAAAACCTG	0.308												
PCNX	22990	broad.mit.edu	37	14	71500186	71500186	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:71500186delT	uc001xmo.2	+	17	4045	c.3599delT	c.(3598-3600)ATTfs	p.I1200fs	PCNX_uc010are.1_Frame_Shift_Del_p.I1089fs|PCNX_uc010arf.1_Frame_Shift_Del_p.I60fs	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1200	Helical; (Potential).					integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTTTCTCCATTTTTTGTGGT	0.338												
TRAF3	7187	broad.mit.edu	37	14	103372037	103372038	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:103372037_103372038delTG	uc001ymc.1	+	12	1976_1977	c.1623_1624delTG	c.(1621-1626)ACTGTTfs	p.T541fs	TRAF3_uc001yme.1_Frame_Shift_Del_p.T516fs|TRAF3_uc001ymd.1_Frame_Shift_Del_p.T541fs|TRAF3_uc010txy.1_Frame_Shift_Del_p.T458fs	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	541_542	MATH.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TGGCCCAAACTGTTCTAGAAAA	0.465												
BAHD1	22893	broad.mit.edu	37	15	40750958	40750958	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:40750958delC	uc001zlu.2	+	2	366	c.295delC	c.(295-297)CCCfs	p.P99fs	BAHD1_uc001zlt.2_Frame_Shift_Del_p.P99fs|BAHD1_uc010bbp.1_Frame_Shift_Del_p.P99fs|BAHD1_uc001zlv.2_Frame_Shift_Del_p.P99fs	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	99					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCTGCCCAAGCCCCCCAGCCC	0.652												
MAP2K5	5607	broad.mit.edu	37	15	67938762	67938762	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:67938762delT	uc002aqu.2	+	11	1344	c.691delT	c.(691-693)TTTfs	p.F231fs	MAP2K5_uc002aqt.1_Frame_Shift_Del_p.F231fs|MAP2K5_uc002aqv.2_Frame_Shift_Del_p.F231fs|MAP2K5_uc002aqw.2_Frame_Shift_Del_p.F71fs|MAP2K5_uc002aqx.2_Frame_Shift_Del_p.F41fs	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	231	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)	2						TTATGGAGCATTTTTTGTAGA	0.294												
RBL2	5934	broad.mit.edu	37	16	53513902	53513905	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:53513902_53513905delAAGT	uc002ehi.3	+	19	2999	c.2881_splice	c.e19+1	p.T961_splice	RBL2_uc002ehj.2_Splice_Site_p.T671_splice|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)						cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						ACAAAGATAGAAGTAAGTGGGATC	0.328												
C16orf74	404550	broad.mit.edu	37	16	85743813	85743813	+	Frame_Shift_Del	DEL	G	G	-	rs112376688		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:85743813delG	uc002fjc.3	-	3	305	c.129delC	c.(127-129)CCCfs	p.P43fs		NM_206967	NP_996850	Q96GX8	CP074_HUMAN	MGC17624 protein	43											0						CCGTGGGGGTGGGGGGCGTGA	0.672												
NUP88	4927	broad.mit.edu	37	17	5322735	5322737	+	In_Frame_Del	DEL	AAG	AAG	-	rs146275519		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:5322735_5322737delAAG	uc002gbo.1	-	1	260_262	c.234_236delCTT	c.(232-237)TTCTTA>TTA	p.F78del	NUP88_uc010vsx.1_In_Frame_Del_p.F78del|NUP88_uc010cle.1_In_Frame_Del_p.F78del|NUP88_uc010vsy.1_In_Frame_Del_p.F78del|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	78					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						GCGAACGACTAAGAAGGAGCTGT	0.645												
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:7578475delG	uc002gim.2	-	5	649	c.455delC	c.(454-456)CCGfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.2_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs|TP53_uc010vug.1_Frame_Shift_Del_p.P113fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTGCCGGGCGGGGGTGTGGA	0.612		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
KDM6B	23135	broad.mit.edu	37	17	7753244	7753244	+	Frame_Shift_Del	DEL	C	C	-	rs147319715		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:7753244delC	uc002giw.1	+	12	3922	c.3546delC	c.(3544-3546)AACfs	p.N1182fs	KDM6B_uc002gix.2_Frame_Shift_Del_p.N484fs	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1182					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						AAAAACTCAACCCCCCTACAC	0.552												
CDK12	51755	broad.mit.edu	37	17	37646922	37646922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:37646922delC	uc010cvv.2	+	3	2630	c.2044delC	c.(2044-2046)CCCfs	p.P682fs	CDK12_uc010wef.1_Frame_Shift_Del_p.P681fs|CDK12_uc002hrw.3_Frame_Shift_Del_p.P682fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	682					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						AGATCTGTCTCCCCCAGACTC	0.468										TCGA Ovarian(9;0.13)		
NOL11	25926	broad.mit.edu	37	17	65718702	65718703	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:65718702_65718703delAA	uc002jgd.1	+	5	471_472	c.468_469delAA	c.(466-471)ACAAAGfs	p.T156fs	NOL11_uc010wql.1_Intron|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	156_157						nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTAGATGGACAAAGTTTTTCGT	0.267												
C19orf2	8725	broad.mit.edu	37	19	30496293	30496293	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:30496293delA	uc002nsr.2	+	5	423	c.393delA	c.(391-393)TTAfs	p.L131fs	C19orf2_uc002nsq.2_Frame_Shift_Del_p.L113fs|C19orf2_uc002nss.2_Frame_Shift_Del_p.L91fs|C19orf2_uc002nst.2_Frame_Shift_Del_p.L55fs	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	131					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		TAGATGACTTAAAAAAAGTGA	0.299												
SCAF1	58506	broad.mit.edu	37	19	50155694	50155694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:50155694delG	uc002poq.2	+	7	2172	c.2048delG	c.(2047-2049)CGGfs	p.R683fs		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	683	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		AGCCGCCGCCGGGGGGCCGTG	0.602												
PXDN	7837	broad.mit.edu	37	2	1683982	1683982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:1683982delG	uc002qxa.2	-	7	777	c.713delC	c.(712-714)CCGfs	p.P238fs	PXDN_uc002qxb.1_Frame_Shift_Del_p.P238fs|PXDN_uc002qxc.1_Frame_Shift_Del_p.P55fs	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	238	LRRCT.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGCTCTTCCGGGGTGATGGT	0.438												
RAD51AP2	729475	broad.mit.edu	37	2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:17698737delT	uc002rcl.1	-	1	970	c.946delA	c.(946-948)ACTfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	316										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTTCTACAGTTTTTTTATCA	0.328												
IRS1	3667	broad.mit.edu	37	2	227662789	227662791	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:227662789_227662791delGAA	uc002voh.3	-	1	716_718	c.664_666delTTC	c.(664-666)TTCdel	p.F222del		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	222	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCACCTCGATGAAGAAGAAGTTT	0.606											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HTR3D	200909	broad.mit.edu	37	3	183756182	183756182	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:183756182delC	uc011bqv.1	+	7	905	c.905delC	c.(904-906)ACCfs	p.T302fs	HTR3D_uc003fmj.2_Intron|HTR3D_uc011bqu.1_Intron|HTR3D_uc010hxp.2_Intron	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine receptor 3 subunit D isoform	302	Extracellular (Potential).					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity				0	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCATGCAGACCCCCTTGCCT	0.582												
EIF2B5	8893	broad.mit.edu	37	3	183853261	183853261	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:183853261delG	uc003fmp.2	+	1	452	c.88delG	c.(88-90)GGGfs	p.G30fs	EIF2B5_uc010hxs.2_Frame_Shift_Del_p.G30fs|EIF2B5_uc003fmq.2_5'UTR	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	30					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGCGGTGGCGGGGGAGCCAG	0.682											OREG0015363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ERBB2IP	55914	broad.mit.edu	37	5	65320241	65320243	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:65320241_65320243delATC	uc003juk.1	+	10	1088_1090	c.780_782delATC	c.(778-783)TTATCA>TTA	p.S262del	ERBB2IP_uc003juh.1_In_Frame_Del_p.S262del|ERBB2IP_uc003jui.1_In_Frame_Del_p.S262del|ERBB2IP_uc003juj.1_In_Frame_Del_p.S262del|ERBB2IP_uc011cqx.1_In_Frame_Del_p.S262del|ERBB2IP_uc011cqy.1_In_Frame_Del_p.S262del|ERBB2IP_uc011cqz.1_In_Frame_Del_p.S262del|ERBB2IP_uc010iwx.1_In_Frame_Del_p.S262del|ERBB2IP_uc003jul.1_In_Frame_Del_p.S262del	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	262	LRR 11.				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ACCTCCTATTATCAAGCAATTCA	0.310												
BDP1	55814	broad.mit.edu	37	5	70791221	70791221	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:70791221delA	uc003kbp.1	+	12	2048	c.1785delA	c.(1783-1785)CTAfs	p.L595fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.L595fs|BDP1_uc003kbo.2_Frame_Shift_Del_p.L595fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	595					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGTTGACCTAAAAAATAATT	0.303												
VCAN	1462	broad.mit.edu	37	5	82816273	82816275	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:82816273_82816275delAGA	uc003kii.3	+	7	2504_2506	c.2148_2150delAGA	c.(2146-2151)ACAGAA>ACA	p.E719del	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_In_Frame_Del_p.E719del|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	719	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGGAAAAACAGAAGAAGAAGTC	0.369												
CDC25C	995	broad.mit.edu	37	5	137622195	137622195	+	Frame_Shift_Del	DEL	C	C	-	rs66784649		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:137622195delC	uc003lcp.1	-	12	1422	c.1151delG	c.(1150-1152)GGCfs	p.G384fs	CDC25C_uc003lcq.1_Frame_Shift_Del_p.G311fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.G384fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.G401fs|CDC25C_uc003lcs.1_Frame_Shift_Del_p.G462fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	384	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATTCGGGGGCCCCTCTCTGA	0.478												
CNOT6	57472	broad.mit.edu	37	5	179992921	179992921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:179992921delA	uc003mlx.2	+	7	1010	c.661delA	c.(661-663)AAAfs	p.K221fs	CNOT6_uc010jld.2_Frame_Shift_Del_p.K221fs|CNOT6_uc010jle.2_Frame_Shift_Del_p.K216fs	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	221					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)		GGACTACAGGAAAAAGGCCAT	0.418												
DEK	7913	broad.mit.edu	37	6	18237613	18237613	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:18237613delT	uc003ncr.1	-	8	1090	c.897delA	c.(895-897)AAAfs	p.K299fs	DEK_uc011djf.1_Frame_Shift_Del_p.K265fs|DEK_uc011djg.1_RNA	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	299					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			kidney(1)	1	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CTAACATACCTTTTTTGGAAC	0.313			T	NUP214	AML							
ZNF292	23036	broad.mit.edu	37	6	87970954	87970954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:87970954delA	uc003plm.3	+	8	7648	c.7607delA	c.(7606-7608)GAAfs	p.E2536fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTTAATAAGGAAAAAAATGTC	0.343												
UBN2	254048	broad.mit.edu	37	7	138967781	138967781	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:138967781delA	uc011kqr.1	+	15	2130	c.2130delA	c.(2128-2130)CCAfs	p.P710fs		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	710										ovary(1)|skin(1)	2						AGTGTAGTCCAAAAAAGGACC	0.398												
ADRA1A	148	broad.mit.edu	37	8	26722168	26722168	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:26722168delC	uc003xfh.1	-	1	755	c.319delG	c.(319-321)GTGfs	p.V107fs	ADRA1A_uc003xfc.1_Frame_Shift_Del_p.V107fs|ADRA1A_uc010lul.1_Frame_Shift_Del_p.V107fs|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Frame_Shift_Del_p.V107fs|ADRA1A_uc010lum.1_Frame_Shift_Del_p.V107fs|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Frame_Shift_Del_p.V107fs	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	107	Helical; Name=3; (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CAGCACAGCACATCCACTGCC	0.627												
NKX6-3	157848	broad.mit.edu	37	8	41504815	41504815	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:41504815delG	uc003xoa.2	-	1	64	c.60delC	c.(58-60)CCCfs	p.P20fs	NKX6-3_uc010lxa.1_Frame_Shift_Del_p.P20fs	NM_152568	NP_689781	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	Error:Variant_position_missing_in_A6NJ46_after_alignment						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTTGGAGCTCGGGGAGGCCCC	0.652												
VPS13B	157680	broad.mit.edu	37	8	100050671	100050671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:100050671delT	uc003yiv.2	+	3	279	c.168delT	c.(166-168)ACTfs	p.T56fs	VPS13B_uc003yiw.2_Frame_Shift_Del_p.T56fs|VPS13B_uc003yit.2_Frame_Shift_Del_p.T56fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.T56fs|VPS13B_uc003yis.2_Frame_Shift_Del_p.T56fs|VPS13B_uc011lgy.1_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	56					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACCATTCACTTTTTTAAGTG	0.254												
CNTLN	54875	broad.mit.edu	37	9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:17484353delA	uc003zmz.2	+	24	3939	c.3913delA	c.(3913-3915)AAAfs	p.K1305fs	CNTLN_uc003zmy.2_Frame_Shift_Del_p.K1306fs|CNTLN_uc010mio.2_Frame_Shift_Del_p.K985fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1306	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAGAGCTTAAAAAAATGAA	0.398												
MXRA5	25878	broad.mit.edu	37	X	3227803	3227803	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:3227803delT	uc004crg.3	-	7	8598	c.8441delA	c.(8440-8442)AACfs	p.N2814fs		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2814	Ig-like C2-type 12.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCGAGAATGTTTTTTGCCAT	0.468												
LANCL3	347404	broad.mit.edu	37	X	37515027	37515027	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:37515027delC	uc011mkd.1	+	2	962	c.660delC	c.(658-660)TTCfs	p.F220fs	LANCL3_uc004ddp.1_Frame_Shift_Del_p.F220fs	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3	220							catalytic activity				0						GGAAACCATTCCCCCTGATGT	0.428												
TSPYL2	64061	broad.mit.edu	37	X	53111923	53111923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:53111923delG	uc004drw.2	+	1	375	c.243delG	c.(241-243)GAGfs	p.E81fs	TSPYL2_uc004drv.2_Frame_Shift_Del_p.E81fs|TSPYL2_uc004drx.1_5'Flank	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	81					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding				0						TTCTCGAGGAGGGGGGGATCC	0.692												
BCORL1	63035	broad.mit.edu	37	X	129149422	129149422	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:129149422delG	uc004evb.1	+	4	2788	c.2674delG	c.(2674-2676)GGGfs	p.G892fs	BCORL1_uc010nrd.1_Frame_Shift_Del_p.G794fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	892					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						ACCACGGCCTGGGGGCTCCTT	0.562												
GABRD	2563	broad.mit.edu	37	1	1956774	1956775	+	Splice_Site	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:1956773_1956774G>GC	uc001aip.2	+	3	277	c.182_splice	c.e3-1	p.G61_splice		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	61						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.V64fs*365(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TTCCTTGCAGGCCCCCCCGTGA	0.644												
VPS13D	55187	broad.mit.edu	37	1	12381923	12381923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:12381922_12381922CG>C	uc001atv.3	+	32	7746	c.7605_7605CG>C	c.(7603-7605)cccfs	p.P2535fs	VPS13D_uc001atw.3_Frame_Shift_Del_p.P2535fs|VPS13D_uc001atx.3_Frame_Shift_Del_p.P1723fs|VPS13D_uc001aty.1_Frame_Shift_Del_p.P273fs	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2535					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGTGGATCCCGTACAAATTC	0.398												
CAPZB	832	broad.mit.edu	37	1	19671731	19671731	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:19671730_19671730GT>G	uc010ocz.2	-	6	1120	c.692_692AC>C	c.(691-693)actfs	p.T231fs	CAPZB_uc001bce.3_Frame_Shift_Del_p.T202fs|CAPZB_uc021ohr.1_Frame_Shift_Del_p.T202fs|CAPZB_uc009vpk.3_Frame_Shift_Del_p.T228fs	NM_004930	NP_004921	P47756	CAPZB_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, beta (CAPZB), transcript variant 1, mRNA.	202					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	F-actin capping protein complex|WASH complex|cytosol	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		GTCACTCACAGTTTCATCCTT	0.557												
ARID1A	8289	broad.mit.edu	37	1	27089706	27089707	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:27089705_27089706A>AG	uc001bmv.1	+	7	3034_3035	c.2661_2662A>AG	c.(2659-2664)ccagggfs	p.P887fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.P887fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.P887fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.P504fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	887					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCCCCCACCAGGGGGCATGAA	0.574			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
S100PBP	64766	broad.mit.edu	37	1	33292220	33292221	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:33292219_33292220ACT>A	uc001bvz.3	+	2	796_797	c.519_520ACT>A	c.(517-522)aaactcfs	p.K173fs	S100PBP_uc001bwa.1_Frame_Shift_Del_p.K173fs|S100PBP_uc001bwb.1_Frame_Shift_Del_p.K173fs|S100PBP_uc001bwc.3_Frame_Shift_Del_p.K173fs|S100PBP_uc001bwd.3_Non-coding_Transcript	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	Homo sapiens S100P binding protein (S100PBP), transcript variant 1, mRNA.	173						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ATACTGAAAAACTCTCTTCCCT	0.401												
CYP4A11	1579	broad.mit.edu	37	1	47398673	47398674	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:47398672_47398673CTT>C	uc001cqp.4	-	9	1320_1321	c.1269_1270AAG>G	c.(1267-1272)aaagtgfs	p.K423fs	CYP4A11_uc001cqq.2_Frame_Shift_Del_p.K423fs	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	423					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TTGGGCCACACTTTTGGGTTGT	0.525												
TYW3	127253	broad.mit.edu	37	1	75229742	75229743	+	In_Frame_Ins	INS	-	-	ATG	rs112765232	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:75229741_75229742A>AATG	uc001dgn.3	+	5	817_818	c.724_725A>AATG	c.(724-726)aat>AATGt	p.N242N	TYW3_uc010oqw.2_In_Frame_Ins_p.N209N|TYW3_uc010oqx.2_In_Frame_Ins_p.N158N|TYW3_uc010oqy.2_Non-coding_Transcript	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	Homo sapiens tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) (TYW3), transcript variant 1, mRNA.	242					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						AGAACTTGAAAATGATGATGAT	0.337												
OLFML3	56944	broad.mit.edu	37	1	114523959	114523960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:114523958_114523959T>TC	uc001eer.1	+	2	897_898	c.788_789T>TC	c.(787-789)atcfs	p.I263fs	OLFML3_uc001ees.1_Frame_Shift_Ins_p.I243fs|OLFML3_uc001eet.1_Frame_Shift_Ins_p.I119fs	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559												
POGZ	23126	broad.mit.edu	37	1	151400826	151400827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:151400825_151400826A>AT	uc001eyd.2	-	5	947_948	c.632_633T>AT	c.(631-633)cctfs	p.P211fs	POGZ_uc021oyq.1_Frame_Shift_Ins_p.P158fs|POGZ_uc010pdb.2_Frame_Shift_Ins_p.P211fs|POGZ_uc010pdc.2_Frame_Shift_Ins_p.P158fs|POGZ_uc009wmv.2_Frame_Shift_Ins_p.P116fs|POGZ_uc001eyf.2_Frame_Shift_Ins_p.P158fs|POGZ_uc010pdd.2_Intron|POGZ_uc001eyg.2_Frame_Shift_Ins_p.P211fs	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	211					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	p.P211H(2)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			CTGGCCTCACAGGGGTCATCTG	0.550												
ADAR	103	broad.mit.edu	37	1	154571020	154571020	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:154571019_154571019TG>T	uc001ffh.3	-	2	1886	c.1644_1644CA>A	c.(1642-1644)ccafs	p.P548fs	ADAR_uc021pag.1_Frame_Shift_Del_p.P253fs|ADAR_uc001ffj.3_Frame_Shift_Del_p.P548fs|ADAR_uc001ffi.3_Frame_Shift_Del_p.P548fs|ADAR_uc001ffk.3_Frame_Shift_Del_p.P253fs	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	548	DRBM 1.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CAGCTTCAGCTGGGGGAAACT	0.473												
VHLL	391104	broad.mit.edu	37	1	156268591	156268592	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:156268590_156268591C>CA	uc001fok.3	-	0	838_839	c.390_391G>TG	c.(388-393)tttgccfs	p.F130fs		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA.	130	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					GTGATGTTGGCAAAAACAGGCT	0.460												
UAP1	6675	broad.mit.edu	37	1	162546600	162546602	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:162546599_162546601GTTC>G	uc001gce.4	+	2	642_644	c.313_315GTTC>G	c.(313-315)gtt>G	p.V105del		NM_003115	NP_003106	Q16222	UAP1_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA.	105					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TAAAGTAGCAGTTCTTCTTCTAG	0.394												
DHX9	1660	broad.mit.edu	37	1	182856514	182856514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:182856513_182856513AG>A	uc001gpr.3	+	27	3932	c.3757_3757AG>A	c.(3757-3759)aggfs	p.R1253fs	DHX9_uc001gps.3_Frame_Shift_Del_p.R1039fs|DHX9_uc001gpt.3_Frame_Shift_Del_p.R532fs|DHX9_uc009wyd.3_Frame_Shift_Del_p.R218fs	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1253	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGGAGGTGGTAGGGGGGCCTA	0.527												
PPP1R12B	4660	broad.mit.edu	37	1	202549645	202549645	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:202549644_202549644GA>G	uc001gya.2	+	23	3055	c.2905_2905GA>G	c.(2905-2907)gaafs	p.E969fs	PPP1R12B_uc001gyb.1_3'UTR|PPP1R12B_uc001gyc.1_Frame_Shift_Del_p.E195fs|PPP1R12B_uc021pho.1_Frame_Shift_Del_p.E173fs	NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	969					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCTGAAAGATGAAAATGGTGC	0.512												
PLXNA2	5362	broad.mit.edu	37	1	208391176	208391177	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:208391175_208391176T>TG	uc001hgz.3	-	1	850_851	c.92_93A>CA	c.(91-93)ccafs	p.P31fs	PLXNA2_uc001hha.4_Frame_Shift_Ins_p.P85fs	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	31					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCCGGCTGCTGGGGGGGCCAG	0.653												
ESRRG	2104	broad.mit.edu	37	1	216680306	216680306	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:216680305_216680305CA>C	uc001hkw.2	-	6	1526	c.1353_1353TG>G	c.(1351-1353)ttgfs	p.L451fs	ESRRG_uc009xdp.1_Frame_Shift_Del_p.L428fs|ESRRG_uc001hky.1_Frame_Shift_Del_p.L428fs|ESRRG_uc001hkz.2_Frame_Shift_Del_p.L389fs|ESRRG_uc010puc.2_Frame_Shift_Del_p.L428fs|ESRRG_uc001hla.2_Frame_Shift_Del_p.L428fs|ESRRG_uc001hlb.2_Frame_Shift_Del_p.L428fs|ESRRG_uc010pud.2_Frame_Shift_Del_p.L266fs|ESRRG_uc021pja.1_Frame_Shift_Del_p.L200fs|ESRRG_uc001hlc.1_Frame_Shift_Del_p.L428fs|ESRRG_uc001hld.1_Frame_Shift_Del_p.L428fs|ESRRG_uc001hkx.2_Frame_Shift_Del_p.L463fs|ESRRG_uc009xdo.2_Frame_Shift_Del_p.L428fs|ESRRG_uc001hle.2_Frame_Shift_Del_p.L428fs|ESRRG_uc021piz.1_Frame_Shift_Del_p.L428fs	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	451					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			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCAACATTTCCAAAAAAAGTT	0.458												
ZNF692	55657	broad.mit.edu	37	1	249151581	249151582	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:249151580_249151581G>GC	uc001ifc.2	-	3	538_539	c.327_328C>GC	c.(325-330)gggcttfs	p.G109fs	ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc010pzr.2_Frame_Shift_Ins_p.G114fs|ZNF692_uc001iff.2_Frame_Shift_Ins_p.G109fs	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCCCACACAAGCCCCCCATCTT	0.619												
CIB4	130106	broad.mit.edu	37	2	26818155	26818156	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:26818154_26818155ACT>A	uc002rhm.3	-	3	246_247	c.217_218AGT>T	c.(217-219)gtgfs	p.V73fs		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	73	EF-hand 1.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGGAGAACACTCTGCAGATA	0.564												
AGBL5	60509	broad.mit.edu	37	2	27278901	27278902	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:27278900_27278901T>TC	uc002rie.3	+	6	1476_1477	c.1259_1260T>TC	c.(1258-1260)atcfs	p.I420fs	AGBL5_uc002rid.3_Frame_Shift_Ins_p.I420fs|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	420					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGATACCATCCCCCCCAAAG	0.515												
WBP1	23559	broad.mit.edu	37	2	74687410	74687411	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:74687409_74687410A>AC	uc002slj.2	+	3	614_615	c.411_412A>AC	c.(409-414)ccacccfs	p.P137fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	137							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CAGGCACACCACCCCCCCCTTA	0.584												
RIF1	55183	broad.mit.edu	37	2	152301934	152301934	+	Frame_Shift_Del	DEL	T	T	-	rs150866594		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:152301933_152301933AT>A	uc002txm.3	+	18	2229	c.2068_2068AT>A	c.(2068-2070)attfs	p.I690fs	RIF1_uc010fnv.2_Frame_Shift_Del_p.I654fs|RIF1_uc002txn.3_Frame_Shift_Del_p.I690fs|RIF1_uc002txl.3_Frame_Shift_Del_p.I690fs|RIF1_uc002txo.3_Frame_Shift_Del_p.I690fs	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	690					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGTAAACCACATTTTTTCAGA	0.313												
MFSD6	54842	broad.mit.edu	37	2	191302246	191302246	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:191302245_191302245AT>A	uc002urz.2	+	2	1814	c.1490_1490AT>A	c.(1489-1491)tatfs	p.Y497fs		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	497					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CTGACAGCATATTTTTTTAGT	0.423												
ZNF142	7701	broad.mit.edu	37	2	219508084	219508084	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:219508083_219508083TC>T	uc002vin.3	-	7	3592	c.3156_3156GA>A	c.(3154-3156)ggafs	p.G1052fs	ZNF142_uc002vil.3_Frame_Shift_Del_p.G1013fs|ZNF142_uc010fvt.3_Frame_Shift_Del_p.G889fs|ZNF142_uc002vim.3_Frame_Shift_Del_p.G889fs	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1052					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCCGCCACGTCCCCCCCTGC	0.602												
TRAK1	22906	broad.mit.edu	37	3	42242450	42242450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:42242449_42242449AC>A	uc003cky.3	+	11	1546	c.1330_1330AC>A	c.(1330-1332)accfs	p.T444fs	TRAK1_uc011azh.2_Frame_Shift_Del_p.T444fs|TRAK1_uc011azi.2_Frame_Shift_Del_p.T444fs|TRAK1_uc003ckz.4_Frame_Shift_Del_p.T370fs|TRAK1_uc011azj.2_Frame_Shift_Del_p.T370fs|TRAK1_uc003cla.3_Frame_Shift_Del_p.T386fs	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	444	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGCGTCAGCACCCCCCGGTC	0.597												
KLHDC8B	200942	broad.mit.edu	37	3	49212566	49212566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:49212565_49212565TG>T	uc003cwh.3	+	4	1072	c.837_837TG>T	c.(835-837)cttfs	p.L279fs	KLHDC8B_uc003cwi.1_3'UTR	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.	279						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTGGGTCCCTTGGGGGCCACA	0.597												
FLNB	2317	broad.mit.edu	37	3	58118575	58118576	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:58118574_58118575G>GCA	uc003djj.2	+	25	4595_4596	c.4430_4431G>GCA	c.(4429-4431)ggcfs	p.G1477fs	FLNB_uc010hne.2_Frame_Shift_Ins_p.G1508fs|FLNB_uc003djk.2_Frame_Shift_Ins_p.G1477fs|FLNB_uc010hnf.2_Frame_Shift_Ins_p.G1477fs|FLNB_uc003djl.2_Frame_Shift_Ins_p.G1308fs|FLNB_uc003djm.2_Frame_Shift_Ins_p.G1308fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1477	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AATGGAGATGGCACACACACAG	0.520												
FEZF2	55079	broad.mit.edu	37	3	62357222	62357222	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:62357221_62357221AT>A	uc003dlh.2	-	1	1181	c.974_974AT>T	c.(973-975)attfs	p.I325fs	FEZF2_uc003dli.2_Frame_Shift_Del_p.I325fs	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	325					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGTGTGGATAATTTTGTGCCT	0.612												
ZBBX	79740	broad.mit.edu	37	3	167068281	167068283	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:167068280_167068282ATCT>A	uc011bpc.2	-	8	791_793	c.454_456AGAT>T	c.(454-456)gat>T	p.D152del	ZBBX_uc003feq.3_In_Frame_Del_p.D123del|ZBBX_uc003fep.3_In_Frame_Del_p.D152del	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	152						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGAACAATAATCTTCTCCACAT	0.310												
MECOM	2122	broad.mit.edu	37	3	168818750	168818751	+	Splice_Site	DEL	TC	TC	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:168818749_168818750ATC>A	uc011bpj.1	-	12	3175	c.2772_splice	c.e12-1	p.R924_splice	MECOM_uc010hwk.1_Splice_Site_p.R750_splice|MECOM_uc003ffj.3_Splice_Site_p.R801_splice|MECOM_uc003ffi.3_Splice_Site_p.R736_splice|MECOM_uc011bpi.1_Splice_Site_p.R728_splice|MECOM_uc003ffn.3_Splice_Site_p.R736_splice|MECOM_uc003ffk.2_Splice_Site_p.R727_splice|MECOM_uc003ffl.2_Splice_Site_p.R887_splice|MECOM_uc011bpk.1_Splice_Site_p.R736_splice	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGCCACAGTATCTGTTATGAA	0.401												
TTC14	151613	broad.mit.edu	37	3	180323593	180323594	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:180323592_180323593G>GA	uc003fkk.3	+	6	1028_1029	c.896_897G>GA	c.(895-897)agafs	p.R299fs	TTC14_uc003fkl.3_Frame_Shift_Ins_p.R299fs|TTC14_uc003fkm.2_Frame_Shift_Ins_p.R299fs	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	299							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTGCATTGAGAAAAAAACAAT	0.292												
TNK2	10188	broad.mit.edu	37	3	195595229	195595230	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:195595228_195595229C>CG	uc003fvu.1	-	11	2438_2439	c.1895_1896G>CG	c.(1894-1896)ccgfs	p.P632fs	TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728												
STAP1	26228	broad.mit.edu	37	4	68447135	68447135	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:68447134_68447134GA>G	uc003hde.4	+	4	557	c.475_475GA>G	c.(475-477)gaafs	p.E159fs	STAP1_uc003hdf.3_Frame_Shift_Del_p.E159fs	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	159					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TACGTCCGTGGAAAAAGAGAA	0.423												
AGPAT9	84803	broad.mit.edu	37	4	84511411	84511411	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:84511410_84511410GT>G	uc003how.3	+	6	921	c.703_703GT>G	c.(703-705)gttfs	p.V235fs	AGPAT9_uc003hox.3_Frame_Shift_Del_p.V235fs|AGPAT9_uc003hoy.3_Frame_Shift_Del_p.V235fs	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	235					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CCCCATTGATGTTTTAATCTT	0.368												
ARHGAP24	83478	broad.mit.edu	37	4	86916560	86916560	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:86916559_86916559TG>T	uc003hpk.3	+	8	2201	c.1752_1752TG>T	c.(1750-1752)tttfs	p.F584fs	ARHGAP24_uc003hpl.3_Frame_Shift_Del_p.F489fs|ARHGAP24_uc010ikf.3_Frame_Shift_Del_p.F499fs|ARHGAP24_uc003hpm.3_Frame_Shift_Del_p.F491fs	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	584					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGACTTTTTTGGGGGGAACT	0.557												
PLK4	10733	broad.mit.edu	37	4	128807221	128807221	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:128807220_128807220CT>C	uc003ifo.3	+	4	969	c.695_695CT>C	c.(694-696)tctfs	p.S232fs	PLK4_uc011cgs.2_Frame_Shift_Del_p.S200fs|PLK4_uc011cgt.2_Frame_Shift_Del_p.S191fs	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	232	Protein kinase.		S -> T (in dbSNP:rs3811740).		G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P231T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAAATGCCATCTTTTTTGTCA	0.378												
DDX60	55601	broad.mit.edu	37	4	169173785	169173785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:169173784_169173784GT>G	uc003irp.3	-	26	3873	c.3581_3581AC>C	c.(3580-3582)accfs	p.T1194fs		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1194							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACATTTCTGGTTTTTTTCTG	0.323												
REEP5	7905	broad.mit.edu	37	5	112214491	112214493	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:112214490_112214492CTCT>C	uc003kqe.1	-	4	705_707	c.561_563AGAG>G	c.(559-564)aagagc>aaGc	p.S188del	SRP19_uc011cvu.2_Intron|REEP5_uc011cvw.1_In_Frame_Del_p.S161del|REEP5_uc011cvx.1_Non-coding_Transcript|REEP5_uc011cvy.1_3'UTR|REEP5_uc011cvz.1_Non-coding_Transcript	NM_005669	NP_005660	Q00765	REEP5_HUMAN	Homo sapiens receptor accessory protein 5 (REEP5), mRNA.	188						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		GGTTTAGGTGCTCTTCTTTTCTT	0.389												
TAF7	6879	broad.mit.edu	37	5	140699362	140699362	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140699361_140699361GT>G	uc003ljg.3	-	0	991	c.251_251AC>C	c.(250-252)actfs	p.T84fs		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	84					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGTAAAAAGTTTTTTTATC	0.443												
SPINK5	11005	broad.mit.edu	37	5	147465986	147465986	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:147465985_147465985TA>T	uc003lox.2	+	4	373	c.300_300TA>T	c.(298-300)tttfs	p.F100fs	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Frame_Shift_Del_p.F72fs|SPINK5_uc010jgr.2_Frame_Shift_Del_p.F81fs|SPINK5_uc003low.2_Frame_Shift_Del_p.F100fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.F100fs	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	100	Kazal-like 2.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGATGATTTTAAAAAAGGAG	0.343												
TMEM14A	28978	broad.mit.edu	37	6	52546638	52546638	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:52546637_52546637CT>C	uc003pax.3	+	2	273	c.97_97CT>C	c.(97-99)cttfs	p.L33fs		NM_014051	NP_054770	Q9Y6G1	TM14A_HUMAN	Homo sapiens transmembrane protein 14A (TMEM14A), mRNA.	33						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					GATTGCTGGTCTTTTTGTTGG	0.408												
KLHL31	401265	broad.mit.edu	37	6	53516564	53516566	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:53516563_53516565ACTT>A	uc003pcb.4	-	2	1877_1879	c.1736_1738AAGT>T	c.(1735-1740)aagtac>aTac	p.579_580KY>I	AX746830_uc003pcc.1_5'UTR	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CACTTCTTGTACTTCTTCTCGCC	0.670											OREG0017507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HECA	51696	broad.mit.edu	37	6	139488147	139488147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:139488146_139488146AG>A	uc003qin.3	+	1	1282	c.997_997AG>A	c.(997-999)aggfs	p.R333fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	333					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGCAGTTCACAGGGGGGGACA	0.587												
LATS1	9113	broad.mit.edu	37	6	150005576	150005579	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:150005575_150005578CCAGA>C	uc003qmu.1	-	3	1195_1198	c.647_650TCTGG>G	c.(646-651)tctggafs	p.S216fs	LATS1_uc010kif.1_Frame_Shift_Del_p.S111fs|LATS1_uc003qmv.2_Frame_Shift_Del_p.S216fs|LATS1_uc003qmw.3_Frame_Shift_Del_p.S216fs|LATS1_uc010kig.1_Frame_Shift_Del_p.S111fs	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	216					G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TATACCAGATCCAGACAAAGGTCT	0.510												
MAGI2	9863	broad.mit.edu	37	7	79082533	79082533	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:79082532_79082532GC>G	uc003ugx.3	-	0	359	c.105_105GC>C	c.(103-105)ggcfs	p.G35fs	MAGI2_uc003ugy.3_Frame_Shift_Del_p.G35fs|MAGI2-AS3_uc022agq.1_Intron|MAGI2-AS3_uc022agr.1_Intron|MAGI2-AS3_uc010lea.2_5'Flank|MAGI2-AS3_uc022ags.1_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	35	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CATTCTCGGCGCCCCCCTTCA	0.582												
BMP1	649	broad.mit.edu	37	8	22067038	22067038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:22067037_22067037TG>T	uc003xbg.3	+	18	2921	c.2655_2655TG>T	c.(2653-2655)cctfs	p.P885fs	BMP1_uc011kzc.2_Frame_Shift_Del_p.P634fs|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	885	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAACTACCCTGGGGGTGTGG	0.622												
TG	7038	broad.mit.edu	37	8	134145764	134145764	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:134145763_134145763AC>A	uc003ytw.3	+	46	8088	c.8047_8047AC>A	c.(8047-8049)accfs	p.T2683fs	TG_uc010mdw.3_Frame_Shift_Del_p.T1442fs|TG_uc011ljb.2_Frame_Shift_Del_p.T1052fs|TG_uc011ljc.2_Frame_Shift_Del_p.T816fs	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2683					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACATTTGCAACCCCCTGGCC	0.493												
CDKN2A	1029	broad.mit.edu	37	9	21974721	21974722	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:21974720_21974721G>GC	uc003zpk.3	-	0	412_413	c.106_107C>GC	c.(106-108)gcgfs	p.A36fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Frame_Shift_Ins_p.A36fs|CDKN2A_uc010miu.3_Frame_Shift_Ins_p.A36fs|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	36					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(11)|p.A36T(4)|p.G35E(3)|p.G35fs*13(2)|p.V28_V51del(2)|p.G35R(2)|p.0(1)|p.E33fs*8(1)|p.L37fs*6(1)|p.A36fs*8(1)|p.G35V(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTTGGGCAGCGCCCCCGCCTCC	0.728		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
TLE4	7091	broad.mit.edu	37	9	82267586	82267587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:82267585_82267586G>GC	uc004ald.3	+	6	1296_1297	c.447_448G>GC	c.(445-450)cagcccfs	p.Q149fs	TLE4_uc004alc.3_Frame_Shift_Ins_p.Q156fs|TLE4_uc010mpr.3_Frame_Shift_Ins_p.Q35fs|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Frame_Shift_Ins_p.Q124fs|TLE4_uc010mps.3_Frame_Shift_Ins_p.Q149fs|TLE4_uc004alf.3_Frame_Shift_Ins_p.Q95fs	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	36										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGGGCTCCAGCCCCCTGCCAT	0.540												
KIN	22944	broad.mit.edu	37	10	7817765	7817765	+	Splice_Site	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318												
KIAA1217	56243	broad.mit.edu	37	10	24669980	24669983	+	Frame_Shift_Del	DEL	GAAA	GAAA	-	rs61735612		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:24669979_24669982CGAAA>C	uc001iru.4	+	2	939_942	c.536_539CGAAA>C	c.(535-540)acgaaafs	p.T179fs	KIAA1217_uc001irs.3_Frame_Shift_Del_p.T99fs|KIAA1217_uc001irt.4_Frame_Shift_Del_p.T179fs|KIAA1217_uc010qcy.2_Frame_Shift_Del_p.T179fs|KIAA1217_uc010qcz.2_Frame_Shift_Del_p.T179fs|KIAA1217_uc001irv.1_Frame_Shift_Del_p.T29fs|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	179					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACCAACCAGACGAAAGAAAGATCT	0.475												
KIAA1462	57608	broad.mit.edu	37	10	30315989	30315989	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:30315988_30315988GC>G	uc009xle.2	-	2	3226	c.3089_3089GC>C	c.(3088-3090)gcafs	p.A1030fs	KIAA1462_uc001iux.3_Frame_Shift_Del_p.A1030fs|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Frame_Shift_Del_p.A892fs	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1030										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGGGAGCCCTGCCCCCCTCTC	0.587												
USP54	159195	broad.mit.edu	37	10	75290284	75290284	+	Splice_Site	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:75290283_75290283TA>T	uc001juo.3	-	12	1465	c.1448_splice	c.e12-1	p.G483_splice	USP54_uc001juk.3_Splice_Site|USP54_uc001jul.3_Splice_Site|USP54_uc001jum.3_Splice_Site|USP54_uc001jun.3_Splice_Site|USP54_uc001jup.3_Splice_Site_p.G483_splice|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Splice_Site_p.G483_splice	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	483					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTGTTTCTCCTAAAAACACAA	0.398												
SEC24C	9632	broad.mit.edu	37	10	75525233	75525234	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:75525232_75525233T>TG	uc001juw.3	+	9	1431_1432	c.1251_1252T>TG	c.(1249-1254)catgggfs	p.H417fs	SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Frame_Shift_Ins_p.H275fs|SEC24C_uc001jux.3_Frame_Shift_Ins_p.H417fs|SEC24C_uc010qko.2_Frame_Shift_Ins_p.H298fs|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	417					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTGTGGACCATGGGGAATCTGG	0.515												
VCL	7414	broad.mit.edu	37	10	75842297	75842297	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:75842296_75842296TC>T	uc001jwd.3	+	6	962	c.868_868TC>T	c.(868-870)tccfs	p.S290fs	VCL_uc009xrr.3_Frame_Shift_Del_p.S39fs|VCL_uc010qky.1_Frame_Shift_Del_p.S197fs|VCL_uc001jwe.3_Frame_Shift_Del_p.S290fs|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	290	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCCTAGTGCCTCCCCAGGTAA	0.448												
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:81072445_81072446A>AC	uc001kaf.2	+	24	3715_3716	c.3143_3144A>AC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_uc001kag.2_Frame_Shift_Ins_p.D924fs|ZMIZ1_uc010qlq.1_Frame_Shift_Ins_p.D114fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCTTATCTGGACCCCCCCGACC	0.559												
C10orf88	80007	broad.mit.edu	37	10	124712362	124712365	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:124712361_124712364TACAA>T	uc001lgw.2	-	1	574_577	c.349_352TTGTA>A	c.(349-354)tgtactfs	p.C117fs	C10orf88_uc001lgx.2_Frame_Shift_Del_p.C19fs	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	117										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TCCAGGACAGTACAAACATTCTTG	0.392												
TRIM22	10346	broad.mit.edu	37	11	5717765	5717765	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:5717764_5717764GA>G	uc001mbr.3	+	1	681	c.302_302GA>G	c.(301-303)ggafs	p.G101fs	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Frame_Shift_Del_p.G101fs|TRIM22_uc010qzm.2_Frame_Shift_Del_p.E7fs|TRIM22_uc009yes.3_Frame_Shift_Del_p.G101fs	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	101					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAGCACCATGGAAAAAAACTC	0.478												
RCOR2	283248	broad.mit.edu	37	11	63681910	63681910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:63681909_63681909GC>G	uc001nyc.3	-	5	973	c.585_585GC>C	c.(583-585)ggcfs	p.G195fs		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	Homo sapiens REST corepressor 2 (RCOR2), mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TGTCCTTGCGGCCCCCCAGCC	0.602												
KLC2	64837	broad.mit.edu	37	11	66033664	66033665	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:66033663_66033664A>AC	uc010rov.1	+	13	1945_1946	c.1702_1703A>AC	c.(1702-1704)accfs	p.T568fs	KLC2_uc010row.1_Frame_Shift_Ins_p.T568fs|KLC2_uc001ohb.2_Frame_Shift_Ins_p.T568fs|KLC2_uc010rox.1_Frame_Shift_Ins_p.T491fs|KLC2_uc001ohc.2_Frame_Shift_Ins_p.T568fs|KLC2_uc001ohd.2_Frame_Shift_Ins_p.T491fs|KLC2_uc001ohe.1_Frame_Shift_Ins_p.T429fs|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	568					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGGGGGGCACCCCCCAGGAG	0.649												
DYNC2H1	79659	broad.mit.edu	37	11	103349969	103349970	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:103349968_103349969T>TA	uc001phn.1	+	89	13076_13077	c.12932_12933T>TA	c.(12931-12933)ctafs	p.L4311fs	DYNC2H1_uc009yxe.1_Frame_Shift_Ins_p.L917fs|DYNC2H1_uc001pho.2_Frame_Shift_Ins_p.L4304fs	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	4304					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTCTATTCCTAAAAAATCAGT	0.391												
THYN1	29087	broad.mit.edu	37	11	134118753	134118753	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:134118752_134118752AT>A	uc001qhf.3	-	6	684	c.582_582AT>T	c.(580-582)aatfs	p.N194fs	THYN1_uc001qhg.3_Frame_Shift_Del_p.N194fs|THYN1_uc001qhh.3_Frame_Shift_Del_p.N194fs|THYN1_uc001qhi.3_Intron|THYN1_uc001qhj.3_Intron	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	194						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		AGAGAACCATATTTTTTAAGG	0.463												
CD4	920	broad.mit.edu	37	12	6924043	6924044	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:6924042_6924043A>AG	uc001qqv.2	+	4	749_750	c.491_492A>AG	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Ins_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564												
MLL2	8085	broad.mit.edu	37	12	49434136	49434136	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:49434135_49434135TG>T	uc001rta.4	-	30	7418	c.7418_7418CA>A	c.(7417-7419)cagfs	p.Q2473fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2473	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TTCAGGGGGCTGGGGTCGGGG	0.657			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
TENC1	23371	broad.mit.edu	37	12	53455663	53455665	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:53455662_53455664AAGG>A	uc001sbp.3	+	21	3647_3649	c.3512_3514AAGG>A	c.(3511-3516)caagga>cAga	p.G1172del	TENC1_uc001sbl.3_In_Frame_Del_p.G1048del|TENC1_uc001sbn.3_In_Frame_Del_p.G1182del|TENC1_uc001sbq.3_In_Frame_Del_p.G570del|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_In_Frame_Del_p.G667del	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	1172	SH2.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CATTCATTCCAAGGAGCTTATGG	0.606												
MBD6	114785	broad.mit.edu	37	12	57919936	57919936	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:57919935_57919935TC>T	uc001soj.1	+	5	1408	c.1184_1184TC>T	c.(1183-1185)gtcfs	p.V395fs	MBD6_uc001sok.1_Frame_Shift_Del_p.V262fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	395	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGCTCCTGTCCCCCAACCC	0.622												
MDM2	4193	broad.mit.edu	37	12	69233090	69233090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:69233089_69233089TC>T	uc021rad.1	+	9	1107	c.633_633TC>T	c.(631-633)aatfs	p.N211fs	MDM2_uc001sui.3_Frame_Shift_Del_p.N318fs|MDM2_uc009zqx.3_Frame_Shift_Del_p.N263fs|MDM2_uc001sun.4_Frame_Shift_Del_p.N137fs|MDM2_uc009zra.3_Frame_Shift_Del_p.N111fs|MDM2_uc021raf.1_Frame_Shift_Del_p.N2fs|MDM2_uc009zrc.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zrd.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zre.3_Frame_Shift_Del_p.N59fs|MDM2_uc001suo.3_Frame_Shift_Del_p.N112fs|MDM2_uc009zrf.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zrg.3_Frame_Shift_Del_p.N34fs|MDM2_uc009zrh.3_Frame_Shift_Del_p.N86fs|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Frame_Shift_Del_p.N282fs|MDM2_uc021rai.1_Frame_Shift_Del_p.N2fs|MDM2_uc021raj.1_Frame_Shift_Del_p.N2fs			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	312	ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.|Poly-Ser.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|cellular response to hypoxia|establishment of protein localization|interspecies interaction between organisms|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTC	0.428			A		"""sarcoma, glioma, colorectal, other"""							
UHRF1BP1L	23074	broad.mit.edu	37	12	100452512	100452513	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:100452511_100452512T>TA	uc001tgq.3	-	13	2772_2773	c.2543_2544A>TA	c.(2542-2544)gtafs	p.V848fs	UHRF1BP1L_uc001tgp.3_Frame_Shift_Ins_p.V498fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	848										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GACTGCCAGTTACAGCTTCTAC	0.411												
KDM2B	84678	broad.mit.edu	37	12	121881493	121881496	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:121881492_121881495GAAGT>G	uc001uat.3	-	16	2657_2660	c.2553_2556ACTTC>C	c.(2551-2556)tacttcfs	p.Y851fs	KDM2B_uc010szy.2_Frame_Shift_Del_p.Y291fs|KDM2B_uc001uaq.3_Frame_Shift_Del_p.Y291fs|KDM2B_uc001uar.3_Frame_Shift_Del_p.Y442fs|KDM2B_uc001uas.3_Intron|KDM2B_uc021rfd.1_Intron|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Frame_Shift_Del_p.Y851fs|KDM2B_uc001uao.3_Frame_Shift_Del_p.Y99fs|KDM2B_uc010szx.2_Frame_Shift_Del_p.Y99fs|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	851					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTGCTGCTGGAAGTAAGTGAGAC	0.681											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMEM132B	114795	broad.mit.edu	37	12	126138565	126138565	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:126138564_126138564AC>A	uc001uhe.1	+	8	2553	c.2545_2545AC>A	c.(2545-2547)accfs	p.T849fs	TMEM132B_uc001uhf.1_Frame_Shift_Del_p.T361fs	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	849						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAAAAGCACAACCCCCCAGTC	0.517												
RNF17	56163	broad.mit.edu	37	13	25378458	25378459	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:25378457_25378458G>GA	uc001upr.3	+	14	2022_2023	c.1981_1982G>GA	c.(1981-1983)gaafs	p.E661fs	RNF17_uc010tdd.1_Frame_Shift_Ins_p.E520fs|RNF17_uc010tde.2_Frame_Shift_Ins_p.E661fs|RNF17_uc010aab.3_Intron|RNF17_uc001ups.3_Frame_Shift_Ins_p.E600fs	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	661					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAGTCACTTTGAAAAAAATACT	0.376												
TPP2	7174	broad.mit.edu	37	13	103266508	103266509	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:103266507_103266508CTA>C	uc001vpi.4	+	2	454_455	c.351_352CTA>C	c.(349-354)ggctatfs	p.G117fs		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	117					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAAAAATGGCTATGACTTCTA	0.366												
OR4K5	79317	broad.mit.edu	37	14	20389294	20389294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:20389293_20389293CT>C	uc010tkw.2	+	0	528	c.528_528CT>C	c.(526-528)agcfs	p.S176fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGTAGACAGCTTTTTTTGTG	0.418												
MYH7	4625	broad.mit.edu	37	14	23896463	23896464	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:23896462_23896463GAC>G	uc001wjx.3	-	16	2048_2049	c.1942_1943GTC>C	c.(1942-1944)tcafs	p.S648fs		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	648	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTGCAGAGCTGACACAGTCTGA	0.574												
G2E3	55632	broad.mit.edu	37	14	31071299	31071302	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:31071298_31071301CCAGA>C	uc001wqk.2	+	9	1125_1128	c.971_974CCAGA>C	c.(970-975)cccagafs	p.P324fs	G2E3_uc010tpe.1_Frame_Shift_Del_p.P239fs|G2E3_uc010tpf.1_Frame_Shift_Del_p.P278fs	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	324					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.R325K(2)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCTAAATTACCCAGACAGTCACCT	0.348												
NID2	22795	broad.mit.edu	37	14	52481919	52481919	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:52481918_52481918CG>C	uc001wzo.3	-	14	3338	c.3104_3104CG>G	c.(3103-3105)cggfs	p.R1035fs	NID2_uc010tqs.2_Frame_Shift_Del_p.R987fs|NID2_uc010tqt.1_Frame_Shift_Del_p.R1035fs|NID2_uc001wzp.3_Frame_Shift_Del_p.R1035fs	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1035	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGTCATCCCGGGGGGTGCC	0.627												
SYNE2	23224	broad.mit.edu	37	14	64450478	64450479	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:64450477_64450478T>TA	uc001xgl.3	+	17	2254_2255	c.2024_2025T>TA	c.(2023-2025)atafs	p.I675fs	SYNE2_uc001xgm.3_Frame_Shift_Ins_p.I675fs|SYNE2_uc021ruh.1_Frame_Shift_Ins_p.I675fs	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	675					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCACTGATGATAAAAAAACAGG	0.297												
EVL	51466	broad.mit.edu	37	14	100594927	100594928	+	Frame_Shift_Ins	INS	-	-	C	rs150744633		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:100594926_100594927G>GC	uc001ygu.3	+	5	645_646	c.558_559G>GC	c.(556-561)ccgcccfs	p.P186fs	EVL_uc001ygt.3_Frame_Shift_Ins_p.P184fs|EVL_uc001ygv.2_Frame_Shift_Ins_p.P190fs	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	184	Pro-rich.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding	p.P189fs*41(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGcctccaccgccccccccacc	0.688												
MGA	23269	broad.mit.edu	37	15	42034971	42034971	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:42034970_42034970GT>G	uc010ucy.2	+	14	4993	c.4812_4812GT>G	c.(4810-4812)gtgfs	p.V1604fs	MGA_uc010ucz.2_Intron|MGA_uc010uda.1_Frame_Shift_Del_p.V220fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1604	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCCCTCAAGTGTTTTTAGAAA	0.473												
BFAR	51283	broad.mit.edu	37	16	14749041	14749042	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:14749040_14749041G>GC	uc002dco.3	+	4	1037_1038	c.756_757G>GC	c.(754-759)aagcccfs	p.K252fs	BFAR_uc010uzh.2_Frame_Shift_Ins_p.K124fs	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	252					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	p.Q255fs*7(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TAGGCGTGAAGCCCCCCCAGAA	0.361												
CTCF	10664	broad.mit.edu	37	16	67671655	67671656	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:67671654_67671655T>TA	uc002etl.3	+	11	2507_2508	c.2063_2064T>TA	c.(2062-2064)gtafs	p.V688fs	CTCF_uc010cek.3_Frame_Shift_Ins_p.V360fs|CTCF_uc002etm.1_Frame_Shift_Ins_p.V175fs	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	688					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ATAGTTGAAGTAAAAAAAGAGC	0.510												
KIAA0182	23199	broad.mit.edu	37	16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688												
DHX58	79132	broad.mit.edu	37	17	40263776	40263777	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:40263775_40263776CCA>C	uc002hyw.3	-	2	358_359	c.135_136TGG>G	c.(133-138)gtggatfs	p.V45fs	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Frame_Shift_Del_p.V45fs	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	45	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTGGCTCCATCCACAGTCTCTA	0.604												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
DNAH17	8632	broad.mit.edu	37	17	76425217	76425217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:76425216_76425216TG>T	uc010dhp.2	-	75	12516	c.12391_12391CA>A	c.(12391-12393)aacfs	p.N4131fs	DNAH17_uc002jvq.3_Frame_Shift_Del_p.N416fs|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGTCCAGGTTGGGGGGGATC	0.582												
ENGASE	64772	broad.mit.edu	37	17	77081777	77081779	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:77081776_77081778GGGA>G	uc002jwv.3	+	12	1783_1785	c.1775_1777GGGA>G	c.(1774-1779)cgggag>cGag	p.E595del	ENGASE_uc002jww.3_In_Frame_Del_p.E300del	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	595						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCGGGTAGTCGGGAGGAGGAGAG	0.640												
HEXDC	284004	broad.mit.edu	37	17	80400298	80400299	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:80400297_80400298T>TG	uc002kev.4	+	11	2003_2004	c.1587_1588T>TG	c.(1585-1590)gctgggfs	p.A529fs	HEXDC_uc002kew.3_3'UTR|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	89					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGCTGGAGGCTGGGGGGGCTCT	0.693												
RIOK3	8780	broad.mit.edu	37	18	21044503	21044503	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:21044502_21044502TA>T	uc002kui.4	+	4	1070	c.453_453TA>T	c.(451-453)cctfs	p.P151fs	RIOK3_uc010dls.3_Frame_Shift_Del_p.P151fs|RIOK3_uc010xas.2_Frame_Shift_Del_p.P135fs|RIOK3_uc010xat.2_5'Flank	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	151					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTCCCACTCCTAAAAAGGGCT	0.363												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013286	+	Splice_Site	INS	-	-	T			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:57013284_57013285C>CT	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGGA	0.297												
SIN3B	23309	broad.mit.edu	37	19	16980691	16980691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:16980690_16980690AT>A	uc002ney.2	+	13	2345	c.2322_2322AT>A	c.(2320-2322)ctafs	p.L774fs	SIN3B_uc002nez.2_Frame_Shift_Del_p.L742fs|SIN3B_uc010xpi.1_Frame_Shift_Del_p.L332fs	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	774					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCTACAGCCTATTTTTTGCCA	0.637												
MYO9B	4650	broad.mit.edu	37	19	17322818	17322818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:17322817_17322817AC>A	uc010eak.3	+	39	6324	c.6172_6172AC>A	c.(6172-6174)accfs	p.T2058fs	MYO9B_uc002nfi.3_3'UTR|MYO9B_uc002nfm.1_3'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	2058	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGAGTGAAGACCCCCCGGCG	0.736												
USF2	7392	broad.mit.edu	37	19	35761684	35761685	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:35761683_35761684G>GC	uc010xss.1	+	5	752_753	c.643_644G>GC	c.(643-645)gccfs	p.A215fs	USF2_uc002nyq.1_Frame_Shift_Ins_p.A215fs|USF2_uc002nyr.1_Frame_Shift_Ins_p.A148fs|USF2_uc002nyt.1_Frame_Shift_Ins_p.A84fs|USF2_uc002nyv.1_Frame_Shift_Ins_p.A17fs			Q15853	USF2_HUMAN	Homo sapiens upstream transcription factor 2, c-fos interacting (USF2), transcript variant 1, mRNA.	215					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.A215S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGGACGATCGCCCCCCGGACA	0.594												
GMFG	9535	broad.mit.edu	37	19	39823749	39823751	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:39823748_39823750GCTC>G	uc002okz.4	-	3	277_279	c.167_169GAGC>C	c.(166-171)gagctc>gCtc	p.56_57EL>A	GMFG_uc002okx.4_In_Frame_Del_p.56_57EL>A	NM_004877	NP_004868	O60234	GMFG_HUMAN	Homo sapiens glia maturation factor, gamma (GMFG), mRNA.	56	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCCATTTTGAGCTCCTCTGGGGA	0.537												
LILRA4	23547	broad.mit.edu	37	19	54844919	54844919	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:54844918_54844918TG>T	uc002qfj.3	-	7	1482	c.1425_1425CA>A	c.(1423-1425)ccafs	p.P475fs	LILRA4_uc002qfi.3_Frame_Shift_Del_p.P409fs	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	475						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGCTGCACCTTGGGGGGCTTC	0.547												
C20orf160	140706	broad.mit.edu	37	20	30602812	30602812	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:30602811_30602811TC>T	uc002wxf.2	+	1	148	c.135_135TC>T	c.(133-135)tatfs	p.Y45fs		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	45										central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						TGCCCCTTTATCCCCCCGACT	0.627												
TSHZ2	128553	broad.mit.edu	37	20	51872445	51872446	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:51872444_51872445T>TC	uc002xwo.3	+	1	3334_3335	c.2447_2448T>TC	c.(2446-2448)gtcfs	p.V816fs	TSHZ2_uc021wex.1_Frame_Shift_Ins_p.V813fs	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	816					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCTCCAGGGTCCCCCCCATGA	0.550												
ATF4	468	broad.mit.edu	37	22	39917951	39917952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:39917950_39917951G>GC	uc003axz.3	+	2	679_680	c.399_400G>GC	c.(397-402)cagcccfs	p.Q133fs	ATF4_uc011aol.1_Frame_Shift_Ins_p.Q45fs|ATF4_uc003aya.3_Frame_Shift_Ins_p.Q133fs|ATF4_uc021wpz.1_5'Flank	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	133					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CTAATAAGCAGCCCCCCCAGAC	0.525												
SREBF2	6721	broad.mit.edu	37	22	42289201	42289201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:42289200_42289200AC>A	uc003bbi.3	+	11	2457	c.2288_2288AC>A	c.(2287-2289)cacfs	p.H763fs	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	763					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TGGCTCTGCCACCCCCTGGGC	0.597												
MSL3	10943	broad.mit.edu	37	X	11790307	11790308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:11790306_11790307A>AC	uc004cuw.3	+	10	1418_1419	c.1313_1314A>AC	c.(1312-1314)tacfs	p.Y438fs	MSL3_uc011mig.2_Frame_Shift_Ins_p.Y289fs|MSL3_uc011mih.2_Frame_Shift_Ins_p.Y426fs|MSL3_uc004cuy.3_Frame_Shift_Ins_p.Y272fs	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	438					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CCTGACAATTACCCCCCAGGTG	0.455												
BCOR	54880	broad.mit.edu	37	X	39937164	39937164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:39937163_39937163AG>A	uc004den.4	-	1	312	c.20_20CT>T	c.(19-21)ctgfs	p.L7fs	BCOR_uc004dep.4_Frame_Shift_Del_p.L7fs|BCOR_uc004deo.4_Frame_Shift_Del_p.L7fs|BCOR_uc004dem.4_Frame_Shift_Del_p.L7fs|BCOR_uc004deq.4_Frame_Shift_Del_p.L7fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	7					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTTCCCATACAGGGGGGTTGC	0.542			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
COL4A6	1288	broad.mit.edu	37	X	107462975	107462975	+	Splice_Site	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:107462974_107462974TA>T	uc004enw.4	-	5	386	c.283_splice	c.e5-1	p.G95_splice	COL4A6_uc004env.4_Splice_Site_p.G94_splice|COL4A6_uc011msn.2_Splice_Site_p.G94_splice|COL4A6_uc010npk.3_Splice_Site_p.G94_splice	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	95	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CATGGGACCCTAAAAAAAGGA	0.423									Alport syndrome with Diffuse Leiomyomatosis			
F9	2158	broad.mit.edu	37	X	138643719	138643719	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:138643718_138643718CA>C	uc004fas.1	+	7	903	c.874_874CA>C	c.(874-876)caafs	p.Q292fs	F9_uc004fat.1_Frame_Shift_Del_p.Q254fs	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	292	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ACATACAGAGCAAAAGCGAAA	0.343												
PRRG3	79057	broad.mit.edu	37	X	150868590	150868592	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:150868589_150868591CGAG>C	uc022cgt.1	+	2	178_180	c.129_131CGAG>C	c.(127-132)tacgag>taCg	p.E45del	PRRG3_uc004few.2_In_Frame_Del_p.E45del	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	45	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCAGCTACGAGGAGGTCAAG	0.557												
