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
ATAD3A	55210	broad.mit.edu	37	1	1451391	1451391	+	Splice_Site	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:1451391G>T	uc001afz.1	+	2	300	c.206_splice	c.e2-1	p.R69_splice	ATAD3A_uc001aga.1_Splice_Site_p.R69_splice|ATAD3A_uc001agb.1_Splice_Site	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A								ATP binding|nucleoside-triphosphatase activity|protein binding			skin(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-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;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TGCGTCTGCAGGTTATGCCAA	0.617												
MIB2	142678	broad.mit.edu	37	1	1560527	1560527	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:1560527C>T	uc001agg.2	+	6	984	c.857C>T	c.(856-858)GCG>GTG	p.A286V	MIB2_uc001agh.2_Missense_Mutation_p.A272V|MIB2_uc001agi.2_Missense_Mutation_p.A286V|MIB2_uc001agj.2_Missense_Mutation_p.A127V|MIB2_uc001agk.2_Intron|MIB2_uc001agl.1_Missense_Mutation_p.A242V|MIB2_uc001agm.2_Intron|MIB2_uc010nyq.1_Missense_Mutation_p.A242V|MIB2_uc009vkh.2_Missense_Mutation_p.A127V|MIB2_uc001agn.2_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	286					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)		GGCGAGGCAGCGGGCGGCTTC	0.627												
NADK	65220	broad.mit.edu	37	1	1685595	1685595	+	Silent	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:1685595C>A	uc009vkw.2	-	10	1117	c.996G>T	c.(994-996)GGG>GGT	p.G332G	NADK_uc001aic.2_Silent_p.G332G|NADK_uc001aid.3_Silent_p.G332G|NADK_uc001aie.2_Silent_p.G477G|NADK_uc010nyv.1_Silent_p.G300G|NADK_uc009vkx.1_3'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	332	Poly-Ala.				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein 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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-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;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TCATGGAGGCCCCGGCCGCGG	0.711												
PRDM16	63976	broad.mit.edu	37	1	3328984	3328984	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:3328984G>A	uc001akf.2	+	9	2303	c.2223G>A	c.(2221-2223)ACG>ACA	p.T741T	PRDM16_uc001akc.2_Silent_p.T741T|PRDM16_uc001akd.2_Silent_p.T741T|PRDM16_uc001ake.2_Silent_p.T741T|PRDM16_uc009vlh.2_Silent_p.T442T	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	741	Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCCCTTCACGGACCGAGCCC	0.647			T	EVI1	MDS|AML							
CCDC27	148870	broad.mit.edu	37	1	3680038	3680038	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:3680038G>T	uc001akv.2	+	7	1402	c.1321G>T	c.(1321-1323)GGA>TGA	p.G441*		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	441										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCTTGCAACAGGTAGGGCCTC	0.647												
AJAP1	55966	broad.mit.edu	37	1	4832433	4832433	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:4832433G>A	uc001alm.1	+	4	1392	c.1011G>A	c.(1009-1011)TCG>TCA	p.S337S	AJAP1_uc001aln.2_Silent_p.S337S	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	337	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTTCCCCTCGGCCCGGGTGC	0.617												
CHD5	26038	broad.mit.edu	37	1	6191747	6191747	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:6191747C>T	uc001amb.1	-	21	3306	c.3206G>A	c.(3205-3207)CGG>CAG	p.R1069Q	CHD5_uc001alz.1_5'UTR|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1069	Helicase C-terminal.				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)		ACCATCAATCCGCTCATACTT	0.572												
KLHL21	9903	broad.mit.edu	37	1	6659390	6659390	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:6659390C>T	uc001aoa.2	-	2	1196	c.1144G>A	c.(1144-1146)GGA>AGA	p.G382R	KLHL21_uc001anz.1_Missense_Mutation_p.G382R|KLHL21_uc009vme.2_Missense_Mutation_p.G15R	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	kelch-like 21	382	Kelch 2.				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		TACAGCAGTCCGTCCAGCACA	0.627												
CAMTA1	23261	broad.mit.edu	37	1	7798362	7798362	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:7798362G>T	uc001aoi.2	+	16	4209	c.4002G>T	c.(4000-4002)CAG>CAT	p.Q1334H	CAMTA1_uc010nzv.1_Missense_Mutation_p.Q421H|CAMTA1_uc001aok.3_Missense_Mutation_p.Q377H|CAMTA1_uc001aoj.2_Missense_Mutation_p.Q290H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTACAGTACAGGTGACTGGAA	0.517												
RERE	473	broad.mit.edu	37	1	8557484	8557484	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:8557484T>C	uc001ape.2	-	10	1795	c.985A>G	c.(985-987)ATG>GTG	p.M329V	RERE_uc001apf.2_Missense_Mutation_p.M329V|RERE_uc010nzx.1_Missense_Mutation_p.M61V|RERE_uc001aph.1_Missense_Mutation_p.M329V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	329	ELM2.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCAAGTACATAAGGAGGTCA	0.458												
PIK3CD	5293	broad.mit.edu	37	1	9780197	9780197	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:9780197C>T	uc001aqb.3	+	11	1575	c.1367C>T	c.(1366-1368)ACG>ATG	p.T456M	PIK3CD_uc010oaf.1_Missense_Mutation_p.T456M|PIK3CD_uc001aqe.3_Missense_Mutation_p.T421M	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	456					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.T456T(1)		lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CTGAACCCCACGGGCACTGTG	0.642												
CASZ1	54897	broad.mit.edu	37	1	10714031	10714031	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:10714031G>A	uc001aro.2	-	11	2403	c.2083C>T	c.(2083-2085)CGG>TGG	p.R695W	CASZ1_uc001arp.1_Missense_Mutation_p.R695W|CASZ1_uc009vmx.2_Missense_Mutation_p.R719W	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	695					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGGATGTGCCGGCGCTCATGC	0.657												
MTOR	2475	broad.mit.edu	37	1	11301720	11301720	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:11301720C>A	uc001asd.2	-	10	1552	c.1431G>T	c.(1429-1431)CAG>CAT	p.Q477H		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	477					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						TGGCATCCACCTGCATTGCCT	0.527											OREG0013097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NPPA	4878	broad.mit.edu	37	1	11907422	11907422	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:11907422C>T	uc001ati.2	-	2	297	c.198G>A	c.(196-198)CCG>CCA	p.P66P	CLCN6_uc010oav.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oaz.1_Intron|CLCN6_uc010oba.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	natriuretic peptide precursor A preproprotein	66					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTTCATTCGGCTCACTGA	0.567												
PRAMEF14	729528	broad.mit.edu	37	1	13669140	13669140	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:13669140A>G	uc009vnw.1	-	4	1229	c.1046T>C	c.(1045-1047)CTG>CCG	p.L349P		NM_001099854	NP_001093324	Q5SWL7	PRA14_HUMAN	PRAME family member 14	349											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGCACAACAGGTCCTTCAG	0.542												
PRAMEF18	391003	broad.mit.edu	37	1	13695905	13695905	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:13695905G>T	uc009vny.1	-	3	1107	c.1060C>A	c.(1060-1062)CTC>ATC	p.L354I		NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN	PRAME family member 18	354											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTAAGAAGAGGGTCTGAAGA	0.542												
PRDM2	7799	broad.mit.edu	37	1	14108436	14108436	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:14108436C>T	uc001avi.2	+	8	5002	c.4146C>T	c.(4144-4146)GGC>GGT	p.G1382G	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.G1382G|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.G1181G|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1382	Arg/Lys-rich (basic).					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)		CCAAAAATGGCGTGGTGGTTT	0.433												
AGMAT	79814	broad.mit.edu	37	1	15905524	15905524	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:15905524C>T	uc001awv.1	-	4	693	c.550G>A	c.(550-552)GTG>ATG	p.V184M	DNAJC16_uc001awu.2_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase) precursor	184					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			skin(1)	1		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TGCGCATCCACGTGCAGCAGC	0.647												
ARHGEF10L	55160	broad.mit.edu	37	1	17983195	17983195	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:17983195G>A	uc001ban.2	+	25	3011	c.2852G>A	c.(2851-2853)CGG>CAG	p.R951Q	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.R912Q|ARHGEF10L_uc001bao.2_Missense_Mutation_p.R912Q|ARHGEF10L_uc001bap.2_Missense_Mutation_p.R907Q|ARHGEF10L_uc001baq.2_Missense_Mutation_p.R712Q|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.R724Q|ARHGEF10L_uc001bar.2_Missense_Mutation_p.R654Q|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	951					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)		GCTTACCCTCGGACCAGCGGT	0.652												
AKR7A3	22977	broad.mit.edu	37	1	19609292	19609292	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:19609292G>A	uc001bbv.1	-	7	1006	c.929C>T	c.(928-930)GCT>GTT	p.A310V		NM_012067	NP_036199	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3	310					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCACGACAGCCGGCTCCAG	0.612												
TMCO4	255104	broad.mit.edu	37	1	20009857	20009857	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:20009857G>A	uc001bcn.2	-	16	1823	c.1581C>T	c.(1579-1581)GAC>GAT	p.D527D	TMCO4_uc001bcm.2_Silent_p.D358D|TMCO4_uc001bco.1_Silent_p.D527D|TMCO4_uc001bcp.1_Silent_p.D487D	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	527						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCCCCTTCTCGTCCCAGCCTG	0.672												
ALPL	249	broad.mit.edu	37	1	21902358	21902358	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:21902358C>T	uc001bet.2	+	10	1387	c.1130C>T	c.(1129-1131)GCG>GTG	p.A377V	ALPL_uc010odn.1_Missense_Mutation_p.A325V|ALPL_uc010odo.1_Missense_Mutation_p.A322V|ALPL_uc010odp.1_Missense_Mutation_p.A300V|ALPL_uc001beu.3_Missense_Mutation_p.A377V	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	377					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GTGGTCACTGCGGACCATTCC	0.607												
RAP1GAP	5909	broad.mit.edu	37	1	21932596	21932596	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:21932596G>A	uc001bex.2	-	18	1649	c.1391C>T	c.(1390-1392)GCG>GTG	p.A464V	RAP1GAP_uc001bev.2_Missense_Mutation_p.A464V|RAP1GAP_uc001bew.2_Missense_Mutation_p.A528V|RAP1GAP_uc001bey.2_Missense_Mutation_p.A464V	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	464					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GTTGTTGGGCGCGAAGCTCCC	0.687												
HNRNPR	10236	broad.mit.edu	37	1	23650160	23650160	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:23650160G>A	uc001bgr.3	-	6	723	c.564C>T	c.(562-564)GCC>GCT	p.A188A	HNRNPR_uc001bgp.3_Silent_p.A188A|HNRNPR_uc009vqk.2_Silent_p.A87A|HNRNPR_uc001bgs.3_Silent_p.A87A|HNRNPR_uc010odw.1_Silent_p.A150A|HNRNPR_uc010odx.1_Intron|HNRNPR_uc009vql.2_Silent_p.A49A	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	188	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AAATGGGTCCGGCCTTCTCAA	0.433												
PAQR7	164091	broad.mit.edu	37	1	26189653	26189653	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:26189653G>A	uc001bkx.2	-	2	1345	c.678C>T	c.(676-678)TTC>TTT	p.F226F		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	226	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CGGAGGACACGAAGATACGAT	0.577												
CNKSR1	10256	broad.mit.edu	37	1	26515144	26515144	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:26515144C>T	uc001bln.3	+	19	1725	c.1667C>T	c.(1666-1668)ACC>ATC	p.T556I	CNKSR1_uc001blm.3_Missense_Mutation_p.T549I|CNKSR1_uc009vsd.2_Missense_Mutation_p.T291I|CNKSR1_uc009vse.2_Missense_Mutation_p.T291I|CNKSR1_uc001blo.2_Missense_Mutation_p.T291I|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	556					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCAGCCACCCCCACACAG	0.647												
CATSPER4	378807	broad.mit.edu	37	1	26526468	26526468	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:26526468C>T	uc010oez.1	+	7	906	c.906C>T	c.(904-906)TTC>TTT	p.F302F	CATSPER4_uc010oey.1_Silent_p.F124F|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	302	Helical; Name=Segment S6; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TCAACCTGTTCGTCATCGTGG	0.517												
AIM1L	55057	broad.mit.edu	37	1	26664036	26664036	+	Missense_Mutation	SNP	C	C	T	rs141056748	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:26664036C>T	uc001bmd.3	-	8	932	c.502G>A	c.(502-504)GGA>AGA	p.G168R	AIM1L_uc001bmf.3_Missense_Mutation_p.G59R	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	168	Beta/gamma crystallin 'Greek key' 3.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CACCAGCCTCCGAGAACTCTC	0.617												
PIGV	55650	broad.mit.edu	37	1	27121381	27121381	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:27121381C>T	uc001bmz.2	+	3	1187	c.856C>T	c.(856-858)CGG>TGG	p.R286W	PIGV_uc001bmy.2_Missense_Mutation_p.R51W|PIGV_uc009vso.2_Missense_Mutation_p.R286W|PIGV_uc010ofg.1_Missense_Mutation_p.R51W|PIGV_uc001bna.2_Missense_Mutation_p.R286W	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	286	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CAAGGGCTACCGGATTGCAGA	0.483												
FAM46B	115572	broad.mit.edu	37	1	27332907	27332907	+	Missense_Mutation	SNP	C	C	T	rs142452050	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:27332907C>T	uc010ofj.1	-	2	978	c.806G>A	c.(805-807)CGC>CAC	p.R269H		NM_052943	NP_443175	Q96A09	FA46B_HUMAN	hypothetical protein LOC115572	269										central_nervous_system(1)	1		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CTCGGGACTGCGCGTGGCGAT	0.687												
SMPDL3B	27293	broad.mit.edu	37	1	28280888	28280888	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:28280888C>T	uc001bpg.2	+	5	732	c.541C>T	c.(541-543)CCG>TCG	p.P181S	SMPDL3B_uc001bpf.2_Missense_Mutation_p.P181S|SMPDL3B_uc010ofq.1_5'UTR|SMPDL3B_uc010ofr.1_Missense_Mutation_p.P133S	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	acid sphingomyelinase-like phosphodiesterase 3B	181					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			ovary(3)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TGAGAAGCTGCCGGGTCCCAG	0.597												
MED18	54797	broad.mit.edu	37	1	28661359	28661359	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:28661359G>A	uc001bpt.3	+	3	750	c.505G>A	c.(505-507)GTG>ATG	p.V169M	MED18_uc009vtg.2_Missense_Mutation_p.V169M	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	169					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding				0		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCTATCTCGTGGAATTAAG	0.488												
RCC1	1104	broad.mit.edu	37	1	28858344	28858344	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:28858344G>A	uc001bqg.1	+	3	188	c.103G>A	c.(103-105)GGC>AGC	p.G35S	SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.G35S|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.G35S|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.G35S|RCC1_uc001bqe.1_Missense_Mutation_p.G52S|RCC1_uc001bqf.1_Missense_Mutation_p.G66S	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	35	RCC1 1.				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGAACCCGGCTTGGTGCT	0.527												
YTHDF2	51441	broad.mit.edu	37	1	29069012	29069012	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:29069012C>T	uc001brc.2	+	4	727	c.230C>T	c.(229-231)ACG>ATG	p.T77M	YTHDF2_uc001brd.2_Missense_Mutation_p.T74M|YTHDF2_uc010ofx.1_Missense_Mutation_p.T27M|YTHDF2_uc001bre.2_Missense_Mutation_p.T27M	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	77					humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTGGTCTACGGGGGGTGAC	0.502												
KPNA6	23633	broad.mit.edu	37	1	32635587	32635587	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:32635587G>A	uc001bug.2	+	13	1437	c.1349G>A	c.(1348-1350)CGG>CAG	p.R450Q	KPNA6_uc001buh.2_Missense_Mutation_p.R225Q|KPNA6_uc010ogx.1_Missense_Mutation_p.R447Q|KPNA6_uc010ogy.1_Missense_Mutation_p.R455Q|KPNA6_uc009vtz.2_Missense_Mutation_p.R345Q	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	450	ARM 9.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACATCCTGCGGCTTGGAGAG	0.527												
HDAC1	3065	broad.mit.edu	37	1	32793260	32793260	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:32793260A>G	uc001bvb.1	+	6	681	c.618A>G	c.(616-618)CCA>CCG	p.P206P	HDAC1_uc010ohd.1_Silent_p.P206P|HDAC1_uc010ohe.1_Silent_p.P143P|HDAC1_uc010ohf.1_Silent_p.P177P|HDAC1_uc001bvc.1_5'Flank	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	206	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein 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)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)	3		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	AGTACTTCCCAGGAACTGGGG	0.517												
TSSK3	81629	broad.mit.edu	37	1	32829430	32829430	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:32829430G>A	uc001bvf.2	+	2	821	c.380G>A	c.(379-381)GGC>GAC	p.G127D	uc001bve.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	127	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				TACTGCCATGGCTGTGGTGTG	0.592												
TRIM62	55223	broad.mit.edu	37	1	33612828	33612828	+	Missense_Mutation	SNP	C	C	T	rs61758110		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:33612828C>T	uc001bxb.2	-	5	2016	c.1378G>A	c.(1378-1380)GCC>ACC	p.A460T		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	460	B30.2/SPRY.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				TTGCCATTGGCGTGGCTCTGG	0.567												
ZSCAN20	7579	broad.mit.edu	37	1	33945006	33945006	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:33945006G>T	uc001bxj.3	+	2	284	c.117G>T	c.(115-117)AAG>AAT	p.K39N	ZSCAN20_uc001bxk.2_Missense_Mutation_p.K39N|ZSCAN20_uc009vui.2_Missense_Mutation_p.K39N	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	39					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCTGGGAGAAGGACCGTGGCT	0.577												
CSMD2	114784	broad.mit.edu	37	1	33999485	33999485	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:33999485C>T	uc001bxn.1	-	62	9499	c.9470G>A	c.(9469-9471)CGT>CAT	p.R3157H	CSMD2_uc001bxm.1_Missense_Mutation_p.R3301H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3157	Sushi 25.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTTTGACAACGGAAGAGGAC	0.562												
MRPS15	64960	broad.mit.edu	37	1	36929762	36929762	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:36929762C>A	uc001cas.2	-	1	279	c.115G>T	c.(115-117)GGC>TGC	p.G39C		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor	39				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697).	translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTGCAGGCCCCACTGGTTG	0.612												
GRIK3	2899	broad.mit.edu	37	1	37307454	37307454	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:37307454C>A	uc001caz.2	-	10	1548	c.1413G>T	c.(1411-1413)AAG>AAT	p.K471N	GRIK3_uc001cba.1_Missense_Mutation_p.K471N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	471	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGGCCAGCTCCTTTAGCAGGT	0.567												
GRIK3	2899	broad.mit.edu	37	1	37337814	37337814	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:37337814G>C	uc001caz.2	-	4	842	c.707C>G	c.(706-708)ACT>AGT	p.T236S	GRIK3_uc001cba.1_Missense_Mutation_p.T236S	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	236	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCCGCCATAGTGTGGCTGCA	0.602												
C1orf109	54955	broad.mit.edu	37	1	38152051	38152051	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:38152051C>T	uc001cbp.2	-	3	539	c.349G>A	c.(349-351)GCA>ACA	p.A117T	C1orf109_uc001cbn.2_5'Flank|C1orf109_uc010oig.1_Missense_Mutation_p.A180T|C1orf109_uc001cbo.2_Missense_Mutation_p.A179T|C1orf109_uc001cbq.1_Silent_p.T99T	NM_017850	NP_060320	Q9NX04	CA109_HUMAN	hypothetical protein LOC54955	117											0		Myeloproliferative disorder(586;0.0393)				ACTGTGTCTGCGTGTTGCTCA	0.512												
MACF1	23499	broad.mit.edu	37	1	39812823	39812823	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:39812823G>A	uc010oiu.1	+	5	6207	c.6076G>A	c.(6076-6078)GCT>ACT	p.A2026T	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3591					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)			ACAGACTGCCGCTCAGGTGGA	0.542												
LEPRE1	64175	broad.mit.edu	37	1	43215907	43215907	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:43215907G>A	uc001chv.2	-	11	1783	c.1670C>T	c.(1669-1671)ACG>ATG	p.T557M	LEPRE1_uc001chw.2_Missense_Mutation_p.T557M|LEPRE1_uc001chx.3_Missense_Mutation_p.T557M	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	557					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTAGAGGGGCGTATCCAGGCG	0.557												
CDC20	991	broad.mit.edu	37	1	43828634	43828634	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:43828634G>A	uc001cix.2	+	11	1435	c.1334G>A	c.(1333-1335)CGG>CAG	p.R445Q	CDC20_uc001ciy.2_Missense_Mutation_p.R445Q	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	445	WD 7.				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACACATCCCGGGTCCTGAGT	0.547												
KIAA0467	23334	broad.mit.edu	37	1	43895417	43895417	+	Missense_Mutation	SNP	C	C	T	rs150269825	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:43895417C>T	uc001cjk.1	+	14	1975	c.1513C>T	c.(1513-1515)CGT>TGT	p.R505C		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1404						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCAGAGCACCCGTGTCCCTGG	0.542												
PTPRF	5792	broad.mit.edu	37	1	44071951	44071951	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:44071951G>A	uc001cjr.2	+	20	3864	c.3524G>A	c.(3523-3525)CGG>CAG	p.R1175Q	PTPRF_uc001cjs.2_Missense_Mutation_p.R1166Q|PTPRF_uc001cju.2_Missense_Mutation_p.R553Q|PTPRF_uc009vwt.2_Missense_Mutation_p.R735Q|PTPRF_uc001cjv.2_Missense_Mutation_p.R635Q|PTPRF_uc001cjw.2_Missense_Mutation_p.R401Q	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1175	Extracellular (Potential).				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)				GAGCAGCGGCGGCGGCGGCGG	0.637												
ST3GAL3	6487	broad.mit.edu	37	1	44303915	44303915	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:44303915C>T	uc001ckc.2	+	5	411	c.234C>T	c.(232-234)TAC>TAT	p.Y78Y	ST3GAL3_uc009vwu.1_RNA|ST3GAL3_uc010okj.1_RNA|ST3GAL3_uc001cjz.2_Silent_p.Y93Y|ST3GAL3_uc001cka.2_Silent_p.Y62Y|ST3GAL3_uc001ckb.2_Silent_p.Y147Y|ST3GAL3_uc001ckd.2_Silent_p.Y132Y|ST3GAL3_uc001cke.2_Silent_p.Y62Y|ST3GAL3_uc001ckf.2_Silent_p.Y116Y|ST3GAL3_uc001ckg.2_Silent_p.Y78Y|ST3GAL3_uc001ckh.2_Silent_p.Y93Y|ST3GAL3_uc001cki.2_Silent_p.Y78Y|ST3GAL3_uc009vwv.2_Silent_p.Y78Y|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Intron|ST3GAL3_uc009vwy.2_Translation_Start_Site|ST3GAL3_uc009vwx.2_RNA|ST3GAL3_uc001ckm.2_Silent_p.Y77Y|ST3GAL3_uc001ckl.2_Silent_p.Y78Y|ST3GAL3_uc009vwz.2_Translation_Start_Site|ST3GAL3_uc001ckn.2_RNA|ST3GAL3_uc001ckp.2_Silent_p.Y77Y|ST3GAL3_uc001cko.2_Silent_p.Y62Y|ST3GAL3_uc009vxa.2_Intron|ST3GAL3_uc001ckq.2_Silent_p.Y62Y|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Silent_p.Y62Y	NM_006279	NP_006270	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform j	78	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCACCAAGTACGCAAACTTTT	0.507												
IPO13	9670	broad.mit.edu	37	1	44415209	44415209	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:44415209G>A	uc001ckx.2	+	2	1000	c.205G>A	c.(205-207)GAC>AAC	p.D69N		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	69	Importin N-terminal.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACTGCAGCCCGACAAGGTACC	0.537												
DMAP1	55929	broad.mit.edu	37	1	44685868	44685868	+	Missense_Mutation	SNP	G	G	A	rs140268980		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:44685868G>A	uc001clq.1	+	10	1311	c.1231G>A	c.(1231-1233)GCA>ACA	p.A411T	DMAP1_uc001clr.1_Missense_Mutation_p.A411T|DMAP1_uc001cls.1_Missense_Mutation_p.A411T|DMAP1_uc010oku.1_Missense_Mutation_p.A401T	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	411					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					TGCCACACCAGCATCAGGCCC	0.657											OREG0013438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TESK2	10420	broad.mit.edu	37	1	45812673	45812673	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:45812673G>A	uc001cns.1	-	8	1173	c.770C>T	c.(769-771)CCG>CTG	p.P257L	TESK2_uc009vxr.1_Missense_Mutation_p.P257L|TESK2_uc010olo.1_Missense_Mutation_p.P174L|TESK2_uc009vxs.1_Missense_Mutation_p.P49L	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	257	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					AAGATAGTCCGGATCGGCCTG	0.537												
NRD1	4898	broad.mit.edu	37	1	52272560	52272560	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:52272560G>A	uc001ctc.3	-	20	2542	c.2220C>T	c.(2218-2220)TTC>TTT	p.F740F	NRD1_uc009vzb.2_Silent_p.F435F|NRD1_uc001ctd.3_Silent_p.F672F|NRD1_uc001cte.2_Silent_p.F608F|NRD1_uc001ctf.2_Silent_p.F672F|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	671					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						CCGGGCAATCGAAAGCCTTCA	0.378												
NRD1	4898	broad.mit.edu	37	1	52285521	52285521	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:52285521G>A	uc001ctc.3	-	11	1768	c.1446C>T	c.(1444-1446)GGC>GGT	p.G482G	NRD1_uc009vzb.2_Silent_p.G177G|NRD1_uc001ctd.3_Silent_p.G414G|NRD1_uc001cte.2_Silent_p.G350G|NRD1_uc001ctf.2_Silent_p.G414G|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Silent_p.G282G	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	413					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						CCGTTAAATGGCCAAAGTTTG	0.328												
RAB3B	5865	broad.mit.edu	37	1	52403065	52403065	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:52403065C>T	uc001cth.2	-	3	373	c.248G>A	c.(247-249)CGG>CAG	p.R83Q		NM_002867	NP_002858	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	83					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(1)	1						GGTCCGGTACCGCTCCTGCCC	0.468												
TACSTD2	4070	broad.mit.edu	37	1	59042093	59042093	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:59042093C>T	uc001cyz.3	-	1	1074	c.736G>A	c.(736-738)GTG>ATG	p.V246M		NM_002353	NP_002344	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	246	Extracellular (Potential).				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity				0	all_cancers(7;6.54e-05)					TCTCCGCGCACGCGCAAGTCC	0.577												
CACHD1	57685	broad.mit.edu	37	1	65145313	65145313	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:65145313G>A	uc001dbo.1	+	24	3232	c.3127G>A	c.(3127-3129)GCC>ACC	p.A1043T	CACHD1_uc001dbp.1_Missense_Mutation_p.A798T|CACHD1_uc001dbq.1_Missense_Mutation_p.A798T|CACHD1_uc010opa.1_Missense_Mutation_p.A287T	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	1094	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						GATTAAAAGCGCCCCTGTGGG	0.493												
WLS	79971	broad.mit.edu	37	1	68564384	68564384	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:68564384T>G	uc001dee.2	-	12	1834	c.1563A>C	c.(1561-1563)GAA>GAC	p.E521D	uc001deb.1_RNA|uc001dec.1_RNA	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 2	Error:Variant_position_missing_in_Q5T9L3_after_alignment					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0						cttgataaagttccgaaacaa	0												
PTGER3	5733	broad.mit.edu	37	1	71513233	71513233	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:71513233C>T	uc001dfg.1	-	1	259	c.28G>A	c.(28-30)GAT>AAT	p.D10N	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.D10N|PTGER3_uc001dfl.1_Missense_Mutation_p.D10N|PTGER3_uc009wbm.1_Missense_Mutation_p.D10N|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.D10N|PTGER3_uc009wbn.1_Missense_Mutation_p.D10N|PTGER3_uc009wbo.2_Missense_Mutation_p.D10N|PTGER3_uc001dfo.2_Missense_Mutation_p.D10N|PTGER3_uc001dfp.1_Missense_Mutation_p.D10N|PTGER3_uc001dfq.2_Missense_Mutation_p.D10N|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	10	Extracellular (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	AAGGGGGCATCCCCTCCGTAG	0.721												
TNNI3K	51086	broad.mit.edu	37	1	74954873	74954873	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:74954873G>C	uc001dgf.1	+	22	2173	c.2122G>C	c.(2122-2124)GGA>CGA	p.G708R	TNNI3K_uc001dge.1_Missense_Mutation_p.G809R	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	708	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						CTATTTACAGGGAAGACCCGA	0.338												
HFM1	164045	broad.mit.edu	37	1	91843980	91843980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:91843980G>A	uc001doa.3	-	10	1316	c.1216C>T	c.(1216-1218)CGA>TGA	p.R406*	HFM1_uc010osu.1_Nonsense_Mutation_p.R85*|HFM1_uc010osv.1_Nonsense_Mutation_p.R90*|HFM1_uc001doc.1_Nonsense_Mutation_p.R406*	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	406	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGAAACAGTCGAACCAGCTGA	0.348												
CDC7	8317	broad.mit.edu	37	1	91989926	91989926	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:91989926T>C	uc001doe.2	+	12	1824	c.1659T>C	c.(1657-1659)AAT>AAC	p.N553N	CDC7_uc001dof.2_Silent_p.N553N|CDC7_uc010osw.1_Silent_p.N525N|CDC7_uc009wdc.2_Silent_p.N553N|CDC7_uc009wdd.2_Silent_p.N196N	NM_003503	NP_003494	O00311	CDC7_HUMAN	cell division cycle 7	553	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TAGATCTAAATCCAGCTTCAA	0.299												
TMEM56	148534	broad.mit.edu	37	1	95657235	95657235	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:95657235C>T	uc001drb.2	+	7	894	c.603C>T	c.(601-603)TCC>TCT	p.S201S	RWDD3_uc001drd.3_Intron|uc001dre.1_Intron|TMEM56_uc001drc.2_Silent_p.S201S	NM_152487	NP_689700	Q96MV1	TMM56_HUMAN	transmembrane protein 56	201	TLC.					integral to membrane					0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TCATGTATTCCGTGTATGGAA	0.393												
LPPR5	163404	broad.mit.edu	37	1	99470207	99470207	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:99470207C>T	uc001dsb.2	-	1	243	c.21G>A	c.(19-21)GCG>GCA	p.A7A	uc001dsd.1_Intron|LPPR5_uc001dsc.2_Silent_p.A7A	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	7						integral to membrane	hydrolase activity				0						TGCTGGTGAGCGCCGCGGGCA	0.577												
WDR47	22911	broad.mit.edu	37	1	109553687	109553687	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:109553687A>G	uc001dwj.2	-	5	1357	c.981T>C	c.(979-981)CAT>CAC	p.H327H	WDR47_uc001dwl.2_Silent_p.H334H|WDR47_uc001dwi.2_Silent_p.H327H|WDR47_uc001dwk.2_Silent_p.H299H|WDR47_uc010ovf.1_Silent_p.H254H	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	327										ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TTCTCTTATCATGACTGGTTA	0.443												
GPR61	83873	broad.mit.edu	37	1	110086476	110086476	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:110086476C>T	uc001dxy.2	+	2	1515	c.832C>T	c.(832-834)CGG>TGG	p.R278W		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	278	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CACCCCACACCGGACGTTTGG	0.632												
KCNC4	3749	broad.mit.edu	37	1	110768707	110768707	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:110768707C>T	uc001dzh.2	+	3	1783	c.1726C>T	c.(1726-1728)CGC>TGC	p.R576C	KCNC4_uc009wfr.2_Missense_Mutation_p.R576C|KCNC4_uc001dzg.2_Missense_Mutation_p.R576C|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	576	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCCTGCGACGCTCCACCAC	0.647												
SLC16A4	9122	broad.mit.edu	37	1	110924293	110924293	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:110924293C>T	uc001dzo.1	-	4	527	c.345G>A	c.(343-345)GTG>GTA	p.V115V	SLC16A4_uc009wfs.1_Intron|SLC16A4_uc001dzp.1_Silent_p.V115V|SLC16A4_uc010ovy.1_Silent_p.V53V|SLC16A4_uc001dzq.1_Silent_p.V53V|SLC16A4_uc010ovz.1_Intron	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	115	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GTCCCATAGTCACACAAAGAA	0.328												
PHTF1	10745	broad.mit.edu	37	1	114253067	114253067	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:114253067G>A	uc009wgp.1	-	10	1530	c.1078C>T	c.(1078-1080)CGA>TGA	p.R360*	PHTF1_uc001edn.2_Nonsense_Mutation_p.R360*|PHTF1_uc001edm.2_Nonsense_Mutation_p.R117*|PHTF1_uc001edo.1_Nonsense_Mutation_p.R117*	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		TTGAGGCTTCGAGAGCCACCA	0.428												
PHTF1	10745	broad.mit.edu	37	1	114254720	114254720	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:114254720A>G	uc009wgp.1	-	8	1251	c.799T>C	c.(799-801)TTG>CTG	p.L267L	PHTF1_uc001edn.2_Silent_p.L267L|PHTF1_uc001edm.2_Silent_p.L24L|PHTF1_uc001edo.1_Silent_p.L24L	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	267						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		CCATTACCCAAACGCCTAAAA	0.428												
TRIM33	51592	broad.mit.edu	37	1	115006998	115006998	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:115006998C>T	uc001eew.2	-	2	623	c.539G>A	c.(538-540)CGG>CAG	p.R180Q	TRIM33_uc010ows.1_5'Flank|TRIM33_uc001eex.2_Missense_Mutation_p.R180Q	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	180					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		TACTGGGCACCGTATTACACC	0.343			T	RET	papillary thyroid							
DENND2C	163259	broad.mit.edu	37	1	115079208	115079208	+	RNA	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:115079208A>G	uc001eez.2	-	29		c.4435T>C				NM_198459		Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C											skin(3)	3	all_epithelial(7;9.54e-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)		ACGGAGGTGGAAACTGGTGGT	0.542												
CASQ2	845	broad.mit.edu	37	1	116311065	116311065	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:116311065C>T	uc001efx.3	-	1	362	c.98G>A	c.(97-99)CGA>CAA	p.R33Q	CASQ2_uc010owu.1_Missense_Mutation_p.R33Q	NM_001232	NP_001223	O14958	CASQ2_HUMAN	cardiac calsequestrin 2 precursor	33			R -> Q (in CPVT2; reduces calcium- dependent dimerization).		heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACTTACCACTCGGTCCTTCCC	0.438												
TRIM45	80263	broad.mit.edu	37	1	117659307	117659307	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:117659307G>A	uc001egz.2	-	3	1871	c.1283C>T	c.(1282-1284)GCA>GTA	p.A428V	TRIM45_uc009whe.2_Missense_Mutation_p.A410V|TRIM45_uc001eha.2_Missense_Mutation_p.A324V	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	428	Filamin.					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)		GATTTCTCCTGCGGCATCCTT	0.478												
PDE4DIP	9659	broad.mit.edu	37	1	144904728	144904728	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:144904728T>C	uc001elw.3	-	20	2875	c.2584A>G	c.(2584-2586)ATG>GTG	p.M862V	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.M928V|PDE4DIP_uc001emc.1_Missense_Mutation_p.M862V|PDE4DIP_uc001emd.1_Missense_Mutation_p.M862V|PDE4DIP_uc001emb.1_Missense_Mutation_p.M1025V|PDE4DIP_uc001eme.1_Intron|PDE4DIP_uc001emf.1_Missense_Mutation_p.M647V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	862	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTCTAGCATCAGCAGCAAC	0.443			T	PDGFRB	MPD							
PDE4DIP	9659	broad.mit.edu	37	1	144915570	144915570	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:144915570G>A	uc001elw.3	-	14	2146	c.1855C>T	c.(1855-1857)CGT>TGT	p.R619C	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R685C|PDE4DIP_uc001emc.1_Missense_Mutation_p.R619C|PDE4DIP_uc001emd.1_Missense_Mutation_p.R619C|PDE4DIP_uc001emb.1_Missense_Mutation_p.R782C|PDE4DIP_uc001eme.1_Missense_Mutation_p.R148C|PDE4DIP_uc001emf.1_Missense_Mutation_p.R404C	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	619	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGCTGTAGACGCTGGCACAGC	0.483			T	PDGFRB	MPD							
BCL9	607	broad.mit.edu	37	1	147095697	147095697	+	Missense_Mutation	SNP	C	C	T	rs139858510	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:147095697C>T	uc001epq.2	+	10	3958	c.3218C>T	c.(3217-3219)CCG>CTG	p.P1073L	BCL9_uc010ozr.1_Missense_Mutation_p.P987L	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1073	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CCCGTGGTTCCGATGCCAACC	0.463			T	IGH@|IGL@	B-ALL							
TARS2	80222	broad.mit.edu	37	1	150469093	150469093	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:150469093C>T	uc001euq.2	+	8	917	c.910C>T	c.(910-912)CGC>TGC	p.R304C	TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Intron|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Intron	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	304					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGACCACCGGCGCATTGGGAA	0.512												
ECM1	1893	broad.mit.edu	37	1	150482172	150482172	+	Nonsense_Mutation	SNP	C	C	T	rs121909115		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:150482172C>T	uc001eus.2	+	3	356	c.157C>T	c.(157-159)CGA>TGA	p.R53*	ECM1_uc010pce.1_5'UTR|ECM1_uc010pcf.1_5'UTR|ECM1_uc001eut.2_Nonsense_Mutation_p.R53*|ECM1_uc001euu.2_Nonsense_Mutation_p.R53*|ECM1_uc001euv.2_Nonsense_Mutation_p.R53*|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	53					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACCCCTATCCCGAAGCCTCCC	0.607												
PSMB4	5692	broad.mit.edu	37	1	151374105	151374105	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:151374105A>G	uc001eyc.1	+	6	804	c.781A>G	c.(781-783)AGT>GGT	p.S261G	PSMB4_uc001eyb.1_3'UTR	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	261					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			CCACATGATCAGGTGAGTAAT	0.458												
INTS3	65123	broad.mit.edu	37	1	153723713	153723713	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:153723713C>T	uc009wom.2	+	8	948	c.727C>T	c.(727-729)CGG>TGG	p.R243W	INTS3_uc001fct.2_Missense_Mutation_p.R243W|INTS3_uc001fcu.2_Translation_Start_Site|INTS3_uc001fcv.2_Missense_Mutation_p.R37W|INTS3_uc010peb.1_Missense_Mutation_p.R37W|INTS3_uc001fcw.2_Translation_Start_Site	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	244					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTCGGGAACGGGTGAGGGA	0.517												
PKLR	5313	broad.mit.edu	37	1	155265486	155265486	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:155265486C>T	uc001fkb.3	-	3	384	c.345G>A	c.(343-345)GCG>GCA	p.A115A	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.A84A|PKLR_uc010pga.1_Silent_p.A51A	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	115			A -> P (in PKRD; Val de Marne).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGTTGAGTCGCGCAATGTTCA	0.642												
GON4L	54856	broad.mit.edu	37	1	155735156	155735156	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:155735156C>A	uc001flz.2	-	21	4205	c.4108G>T	c.(4108-4110)GAA>TAA	p.E1370*	GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Nonsense_Mutation_p.E1370*|GON4L_uc009wrh.1_Nonsense_Mutation_p.E1370*|GON4L_uc001fma.1_Nonsense_Mutation_p.E1370*|GON4L_uc001fmb.3_Nonsense_Mutation_p.E566*|GON4L_uc001fmc.2_Nonsense_Mutation_p.E1370*|GON4L_uc001fmd.3_Nonsense_Mutation_p.E1370*|GON4L_uc009wri.2_Nonsense_Mutation_p.E956*	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1370					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCGTTACTTCTCCAGCACTG	0.502												
CRABP2	1382	broad.mit.edu	37	1	156675181	156675181	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:156675181G>A	uc001fpr.2	-	1	195	c.58C>T	c.(58-60)CTC>TTC	p.L20F		NM_001878	NP_001869	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	20					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			upper_aerodigestive_tract(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	AGCACTTTGAGCAATTCCTCG	0.582												
OR10R2	343406	broad.mit.edu	37	1	158450438	158450438	+	Silent	SNP	G	G	A	rs145805567		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:158450438G>A	uc010pik.1	+	1	771	c.771G>A	c.(769-771)GCG>GCA	p.A257A	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	257	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					GACGGAAAGCGTTTTCCACCT	0.458												
OR6K2	81448	broad.mit.edu	37	1	158669736	158669736	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:158669736C>T	uc001fsu.1	-	1	707	c.707G>A	c.(706-708)CGC>CAC	p.R236H		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	236	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					AAATGCTGTGCGGCGGCCTCC	0.463												
MNDA	4332	broad.mit.edu	37	1	158817665	158817665	+	Missense_Mutation	SNP	C	C	T	rs139902913		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:158817665C>T	uc001fsz.1	+	6	1335	c.1135C>T	c.(1135-1137)CGC>TGC	p.R379C		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	379	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					AACAGTTGACCGCAAGCTGAA	0.443												
ATP1A2	477	broad.mit.edu	37	1	160100380	160100380	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:160100380G>A	uc001fvc.2	+	13	1952	c.1820G>A	c.(1819-1821)GGC>GAC	p.G607D	ATP1A2_uc001fvb.2_Missense_Mutation_p.G607D|ATP1A2_uc001fvd.2_Missense_Mutation_p.G343D|ATP1A2_uc009wtg.1_Missense_Mutation_p.G295D	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	607	Cytoplasmic (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)			CGAAGCGCAGGCATCAAGGTA	0.602												
CD84	8832	broad.mit.edu	37	1	160523188	160523188	+	Missense_Mutation	SNP	C	C	T	rs144013322		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:160523188C>T	uc001fwh.3	-	4	764	c.740G>A	c.(739-741)CGT>CAT	p.R247H	CD84_uc001fwf.3_Missense_Mutation_p.R247H|CD84_uc001fwg.3_Missense_Mutation_p.R247H|CD84_uc009wtn.2_Missense_Mutation_p.R247H|CD84_uc001fwi.3_Missense_Mutation_p.R133H|CD84_uc001fwj.2_Missense_Mutation_p.R247H	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	247	Cytoplasmic (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTTGAACAAACGGAACAAAAA	0.468												
FCRLA	84824	broad.mit.edu	37	1	161681180	161681180	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:161681180G>A	uc001gbe.2	+	4	726	c.484G>A	c.(484-486)GGG>AGG	p.G162R	FCRLA_uc001gbd.2_Missense_Mutation_p.G156R|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	139	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGCAGACAGCGGGCACTACCA	0.572												
NOS1AP	9722	broad.mit.edu	37	1	162335235	162335235	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:162335235G>A	uc001gbv.2	+	9	1368	c.981G>A	c.(979-981)GCG>GCA	p.A327A	NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Silent_p.A322A|NOS1AP_uc009wut.1_Silent_p.A32A	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	327	Potential.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGCTGCGGCGCGGCTGGAGG	0.587												
UHMK1	127933	broad.mit.edu	37	1	162470791	162470791	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:162470791C>A	uc001gcc.1	+	3	786	c.650C>A	c.(649-651)ACA>AAA	p.T217K	UHMK1_uc001gcb.1_Missense_Mutation_p.T143K|UHMK1_uc009wuu.1_Missense_Mutation_p.T217K	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	217	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CAGAGTGATACAGAATGTACC	0.438												
SELL	6402	broad.mit.edu	37	1	169677835	169677835	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:169677835A>G	uc001ggk.2	-	3	393	c.195T>C	c.(193-195)GTT>GTC	p.V65V	C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Silent_p.V18V|SELL_uc001ggl.1_Silent_p.V78V	NM_000655	NP_000646	P14151	LYAM1_HUMAN	selectin L precursor	65	C-type lectin.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding				0	all_hematologic(923;0.208)					TTTGTATGGCAACTAAATCTG	0.433												
C1orf129	80133	broad.mit.edu	37	1	170955773	170955773	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:170955773A>G	uc001ghg.2	+	10	931	c.801A>G	c.(799-801)TCA>TCG	p.S267S	C1orf129_uc009wvy.2_Silent_p.S74S|C1orf129_uc010plz.1_Silent_p.S267S	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	267							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACTCTCTTCACCTGATGATA	0.438												
QSOX1	5768	broad.mit.edu	37	1	180165944	180165944	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:180165944C>T	uc001gnz.2	+	12	2091	c.2016C>T	c.(2014-2016)GGC>GGT	p.G672G	QSOX1_uc001gny.2_Intron|QSOX1_uc001goa.2_Intron|QSOX1_uc001goc.2_Silent_p.G214G|FLJ23867_uc001god.3_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	672					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						GGCGCGTGGGCCGCAGCTCCA	0.677												
FAM5C	339479	broad.mit.edu	37	1	190068210	190068210	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:190068210G>A	uc001gse.1	-	8	1471	c.1239C>T	c.(1237-1239)AAC>AAT	p.N413N	FAM5C_uc010pot.1_Silent_p.N311N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	413						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CTAGGAGGCCGTTCTCATTGC	0.493												
CACNA1S	779	broad.mit.edu	37	1	201012450	201012450	+	Silent	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:201012450G>T	uc001gvv.2	-	40	5234	c.5007C>A	c.(5005-5007)GCC>GCA	p.A1669A		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1669	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGTTGCCATAGGCGACATTGG	0.552											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IGFN1	91156	broad.mit.edu	37	1	201196181	201196181	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:201196181G>T	uc001gwc.2	+	12	3210	c.2438G>T	c.(2437-2439)AGC>ATC	p.S813I	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						AATGACCGCAGCCTGGAAGGA	0.667												
LGR6	59352	broad.mit.edu	37	1	202287739	202287739	+	Missense_Mutation	SNP	G	G	A	rs145532673	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:202287739G>A	uc001gxu.2	+	18	2308	c.2308G>A	c.(2308-2310)GCC>ACC	p.A770T	LGR6_uc001gxv.2_Missense_Mutation_p.A718T|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.A631T	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	770	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						GTGGGACTGCGCCATGGTGAG	0.612												
MYOG	4656	broad.mit.edu	37	1	203054835	203054835	+	Silent	SNP	C	C	T	rs148417428		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:203054835C>T	uc001gzd.2	-	1	543	c.255G>A	c.(253-255)GCG>GCA	p.A85A		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	85	Basic motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						TCAGTGTGGCCGCCCGCCGCC	0.657												
SOX13	9580	broad.mit.edu	37	1	204094988	204094988	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:204094988C>T	uc001ham.2	+	14	2190	c.1595C>T	c.(1594-1596)CCG>CTG	p.P532L	SOX13_uc010pqp.1_Missense_Mutation_p.P531L|SOX13_uc010pqq.1_Missense_Mutation_p.P399L	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	532					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCCACAGCCCGCAGGCTGGC	0.622												
DSTYK	25778	broad.mit.edu	37	1	205119923	205119923	+	Splice_Site	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:205119923C>T	uc001hbw.2	-	11	2417	c.2353_splice	c.e11-1	p.L785_splice	DSTYK_uc001hbx.2_Splice_Site_p.L785_splice	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1							cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						GCTTATCCAGCTGCCAACAAA	0.517												
TMCC2	9911	broad.mit.edu	37	1	205238117	205238117	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:205238117G>A	uc001hbz.1	+	4	1231	c.787G>A	c.(787-789)GGC>AGC	p.G263S	TMCC2_uc010prf.1_Missense_Mutation_p.G185S|TMCC2_uc001hca.2_Missense_Mutation_p.G38S|TMCC2_uc001hcb.1_Missense_Mutation_p.G23S|TMCC2_uc001hcc.1_5'UTR|TMCC2_uc001hcd.2_Missense_Mutation_p.G30S	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	263						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCCGCCGGCCATGGTGA	0.662												
MFSD4	148808	broad.mit.edu	37	1	205548987	205548987	+	Silent	SNP	G	G	A	rs150786831		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:205548987G>A	uc001hcv.3	+	2	425	c.339G>A	c.(337-339)GCG>GCA	p.A113A	MFSD4_uc010prk.1_Silent_p.A113A|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Silent_p.A58A	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	113	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CAGTCATGGCGCTGGCGGGCT	0.622												
CR1L	1379	broad.mit.edu	37	1	207818618	207818618	+	Missense_Mutation	SNP	C	C	T	rs61739989	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:207818618C>T	uc001hga.3	+	1	161	c.40C>T	c.(40-42)CGG>TGG	p.R14W	CR1L_uc001hfz.2_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	14						cytoplasm|extracellular region|membrane					0						CTTTCCTTCCCGGCGCTTTCC	0.667												
IRF6	3664	broad.mit.edu	37	1	209968664	209968664	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:209968664T>C	uc001hhq.1	-	5	742	c.479A>G	c.(478-480)CAG>CGG	p.Q160R	IRF6_uc010psm.1_Missense_Mutation_p.Q65R|IRF6_uc009xct.1_Missense_Mutation_p.Q160R	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	160					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GAAGGTGTCCTGGATGGGAAC	0.502										HNSCC(57;0.16)		
C1orf107	27042	broad.mit.edu	37	1	210017023	210017023	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:210017023G>A	uc001hhr.1	+	11	2085	c.2009G>A	c.(2008-2010)CGC>CAC	p.R670H	C1orf107_uc009xcu.1_Missense_Mutation_p.R385H	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	670					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		TTCACAGAGCGCTTCCATTTC	0.493												
TMEM206	55248	broad.mit.edu	37	1	212583792	212583792	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:212583792T>G	uc001hjc.3	-	2	276	c.108A>C	c.(106-108)AGA>AGC	p.R36S	TMEM206_uc010pte.1_Missense_Mutation_p.R97S	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	36	Cytoplasmic (Potential).					integral to membrane				breast(1)	1				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GACCTTGGACTCTGACCGTCT	0.562												
CENPF	1063	broad.mit.edu	37	1	214816309	214816309	+	Missense_Mutation	SNP	C	C	T	rs141012292	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:214816309C>T	uc001hkm.2	+	12	4802	c.4628C>T	c.(4627-4629)TCG>TTG	p.S1543L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1639					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAACCCCTTCGGCCCCAGCG	0.493												
ESRRG	2104	broad.mit.edu	37	1	216850658	216850658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:216850658C>A	uc001hkw.1	-	2	398	c.232G>T	c.(232-234)GGA>TGA	p.G78*	ESRRG_uc001hky.1_Nonsense_Mutation_p.G55*|ESRRG_uc009xdp.1_Nonsense_Mutation_p.G55*|ESRRG_uc001hkz.1_Nonsense_Mutation_p.G55*|ESRRG_uc010puc.1_Nonsense_Mutation_p.G55*|ESRRG_uc001hla.1_Nonsense_Mutation_p.G55*|ESRRG_uc001hlb.1_Nonsense_Mutation_p.G55*|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Nonsense_Mutation_p.G55*|ESRRG_uc001hld.1_Nonsense_Mutation_p.G55*|ESRRG_uc001hkx.1_Nonsense_Mutation_p.G83*|ESRRG_uc009xdo.1_Nonsense_Mutation_p.G55*|ESRRG_uc001hle.1_Nonsense_Mutation_p.G55*	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	78					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GAGTCAAGTCCGTTCTGATGG	0.567												
GPATCH2	55105	broad.mit.edu	37	1	217793655	217793655	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:217793655C>T	uc001hlf.1	-	2	339	c.243G>A	c.(241-243)CCG>CCA	p.P81P	GPATCH2_uc001hlg.3_Silent_p.P81P	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	81						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CAGTCTCCCACGGGTGATGCA	0.433												
GPATCH2	55105	broad.mit.edu	37	1	217793681	217793681	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:217793681G>A	uc001hlf.1	-	2	313	c.217C>T	c.(217-219)CGG>TGG	p.R73W	GPATCH2_uc001hlg.3_Missense_Mutation_p.R73W	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	73						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TACGACCTCCGTTTTCTCCCT	0.478												
EPRS	2058	broad.mit.edu	37	1	220208265	220208265	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:220208265T>C	uc001hly.1	-	3	492	c.222A>G	c.(220-222)GAA>GAG	p.E74E	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Silent_p.E74E|EPRS_uc009xdt.1_5'UTR	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	74					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCTCAGTATGTTCCATCAGAT	0.348												
MOSC1	64757	broad.mit.edu	37	1	220970104	220970104	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:220970104G>A	uc001hms.2	+	3	817	c.569G>A	c.(568-570)AGA>AAA	p.R190K	MOSC1_uc001hmt.2_Missense_Mutation_p.R190K	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	MOCO sulphurase C-terminal domain containing 1	190	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.0358)		ATGCGACCGAGACGTCCTCAT	0.602												
HLX	3142	broad.mit.edu	37	1	221053223	221053223	+	Silent	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:221053223C>A	uc001hmv.3	+	1	481	c.24C>A	c.(22-24)CCC>CCA	p.P8P		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	8					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		GGCTGGCTCCCTTCTACGCCT	0.731												
OBSCN	84033	broad.mit.edu	37	1	228464338	228464338	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:228464338G>A	uc009xez.1	+	22	6452	c.6408G>A	c.(6406-6408)TCG>TCA	p.S2136S	OBSCN_uc001hsn.2_Silent_p.S2136S|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2136	Ig-like 21.				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)				TCACACTCTCGGGGCTGCGGC	0.692												
OBSCN	84033	broad.mit.edu	37	1	228525710	228525710	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:228525710G>A	uc009xez.1	+	67	16910	c.16866G>A	c.(16864-16866)ACG>ACA	p.T5622T	OBSCN_uc001hsn.2_Silent_p.T5622T|OBSCN_uc001hsr.1_Silent_p.T250T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5622	SH3.				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)				ATGCCATCACGCTGCGGGAAG	0.627												
ACTA1	58	broad.mit.edu	37	1	229568322	229568322	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:229568322G>A	uc001htm.2	-	3	540	c.435C>T	c.(433-435)TAC>TAT	p.Y145Y		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	145					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGCCGGAGGCGTAGAGGGACA	0.478												
CAPN9	10753	broad.mit.edu	37	1	230903329	230903329	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:230903329C>T	uc001htz.1	+	5	692	c.579C>T	c.(577-579)ATC>ATT	p.I193I	CAPN9_uc009xfg.1_Silent_p.I130I|CAPN9_uc001hua.1_Silent_p.I193I	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1	193	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCAGCGCCATCGAGGCCATGG	0.557												
PCNXL2	80003	broad.mit.edu	37	1	233372604	233372604	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:233372604G>A	uc001hvl.2	-	9	2580	c.2345C>T	c.(2344-2346)TCG>TTG	p.S782L	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_Missense_Mutation_p.S81L	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	782						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGGGTTTCCGACTGGGTCCT	0.507												
MTR	4548	broad.mit.edu	37	1	237057711	237057711	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:237057711G>A	uc001hyi.3	+	30	3682	c.3259G>A	c.(3259-3261)GCT>ACT	p.A1087T	MTR_uc010pxw.1_Missense_Mutation_p.A680T|MTR_uc010pxx.1_Missense_Mutation_p.A1036T|MTR_uc010pxy.1_Missense_Mutation_p.A941T	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1087	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGACTTCATCGCTCCCTTGCA	0.562												
RYR2	6262	broad.mit.edu	37	1	237806639	237806639	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:237806639G>A	uc001hyl.1	+	48	7354	c.7234G>A	c.(7234-7236)GGG>AGG	p.G2412R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2412	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATTCATGCCGGGAAGGGAGA	0.413												
RYR2	6262	broad.mit.edu	37	1	237947294	237947294	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:237947294C>T	uc001hyl.1	+	90	12402	c.12282C>T	c.(12280-12282)ATC>ATT	p.I4094I	RYR2_uc010pya.1_Silent_p.I509I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4094					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.I4092I(1)		ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGAAGGACATCGGCTTCAACG	0.498												
ZP4	57829	broad.mit.edu	37	1	238051712	238051712	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:238051712G>T	uc001hym.2	-	4	499	c.499C>A	c.(499-501)CTA>ATA	p.L167I	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	167	P-type.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAACAGCCTAGCCCTTCACAG	0.527												
EXO1	9156	broad.mit.edu	37	1	242035407	242035407	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:242035407T>C	uc001hzh.2	+	12	1881	c.1341T>C	c.(1339-1341)TCT>TCC	p.S447S	EXO1_uc001hzi.2_Silent_p.S447S|EXO1_uc001hzj.2_Silent_p.S447S|EXO1_uc009xgq.2_Silent_p.S446S	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	447	Interaction with MLH1.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAAATAGCTCTGAAGGCAATA	0.373								Direct_reversal_of_damage|Editing_and_processing_nucleases				
AKT3	10000	broad.mit.edu	37	1	243675724	243675724	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:243675724A>G	uc001iab.1	-	12	1337	c.1256T>C	c.(1255-1257)GTA>GCA	p.V419A	AKT3_uc001hzz.1_Missense_Mutation_p.V419A	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	419	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AAAAGGAGGTACAAGCTGTAA	0.318												
KIF26B	55083	broad.mit.edu	37	1	245850605	245850605	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:245850605G>A	uc001ibf.1	+	12	4760	c.4320G>A	c.(4318-4320)CCG>CCA	p.P1440P	KIF26B_uc001ibg.1_Silent_p.P1058P|KIF26B_uc001ibh.1_Silent_p.P682P	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1440					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TTGAGGACCCGTGGCTGAAAC	0.552												
CNST	163882	broad.mit.edu	37	1	246810568	246810568	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:246810568A>G	uc001ibp.2	+	9	1443	c.1065A>G	c.(1063-1065)GCA>GCG	p.A355A	CNST_uc001ibo.3_Silent_p.A355A	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	355					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						CGGTAACTGCAGGAAAGGACC	0.582											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF496	84838	broad.mit.edu	37	1	247464071	247464071	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:247464071G>A	uc001ico.2	-	9	1979	c.1514C>T	c.(1513-1515)GCG>GTG	p.A505V	ZNF496_uc009xgv.2_Missense_Mutation_p.A541V|ZNF496_uc001icp.2_Missense_Mutation_p.A505V	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	505					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)			ACCCTTGTCCGCGTCCTCGGA	0.637												
SFMBT2	57713	broad.mit.edu	37	10	7269848	7269848	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:7269848G>A	uc009xio.1	-	10	1263	c.1172C>T	c.(1171-1173)GCG>GTG	p.A391V	SFMBT2_uc001ijn.1_Missense_Mutation_p.A391V|SFMBT2_uc010qay.1_Missense_Mutation_p.A391V	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	391	MBT 4.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						GGCTTCCTGCGCCCCATGCTG	0.428												
OPTN	10133	broad.mit.edu	37	10	13154615	13154615	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:13154615T>G	uc001ilu.1	+	6	970	c.532T>G	c.(532-534)TTT>GTT	p.F178V	OPTN_uc001ilv.1_Missense_Mutation_p.F178V|OPTN_uc001ilw.1_Missense_Mutation_p.F178V|OPTN_uc001ilx.1_Missense_Mutation_p.F178V|OPTN_uc001ily.1_Missense_Mutation_p.F178V|OPTN_uc010qbr.1_Missense_Mutation_p.F121V|OPTN_uc001ilz.1_Missense_Mutation_p.F178V	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	178	Interaction with Rab8.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			ovary(2)	2						AGAAGATTCCTTTGTTGAAAT	0.448												
SLC39A12	221074	broad.mit.edu	37	10	18276431	18276431	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:18276431G>A	uc001ipo.2	+	7	1393	c.1120G>A	c.(1120-1122)GTC>ATC	p.V374I	SLC39A12_uc001ipn.2_Missense_Mutation_p.V374I|SLC39A12_uc001ipp.2_Missense_Mutation_p.V374I|SLC39A12_uc010qck.1_Missense_Mutation_p.V240I	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	374	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						CACGGTGGCTGTCACCCTTCT	0.537												
MYO3A	53904	broad.mit.edu	37	10	26463094	26463094	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:26463094A>G	uc001isn.2	+	30	4261	c.3901A>G	c.(3901-3903)ATG>GTG	p.M1301V	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1301					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						TGCAAACAGCATGGAAAAAGA	0.443												
PDSS1	23590	broad.mit.edu	37	10	26998620	26998620	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:26998620T>C	uc001isv.2	+	5	436	c.390T>C	c.(388-390)GAT>GAC	p.D130D	PDSS1_uc001isw.2_Silent_p.D130D	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	prenyl diphosphate synthase, subunit 1	130					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity				0						ACTACTTTGATGGGAAAGGGA	0.398												
MPP7	143098	broad.mit.edu	37	10	28378660	28378660	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:28378660C>T	uc001iua.1	-	14	1467	c.1063G>A	c.(1063-1065)GAA>AAA	p.E355K	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.E355K|MPP7_uc009xla.2_Missense_Mutation_p.E355K|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	355					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						GTCACTTCTTCGTATGTGGGT	0.378												
SVIL	6840	broad.mit.edu	37	10	29782225	29782225	+	Missense_Mutation	SNP	G	G	A	rs141855067		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:29782225G>A	uc001iut.1	-	21	4690	c.3937C>T	c.(3937-3939)CGC>TGC	p.R1313C	SVIL_uc010qdw.1_Missense_Mutation_p.R227C|SVIL_uc001iuu.1_Missense_Mutation_p.R887C|SVIL_uc009xlc.2_Missense_Mutation_p.R105C	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1313					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TCCACGCTGCGGTAAAATTTG	0.468												
ANKRD30A	91074	broad.mit.edu	37	10	37430911	37430911	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:37430911G>A	uc001iza.1	+	7	1017	c.918G>A	c.(916-918)ACG>ACA	p.T306T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	362						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GGGAAATTACGAGTCCTGCAA	0.428												
ZNF488	118738	broad.mit.edu	37	10	48371037	48371037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:48371037C>T	uc001jex.2	+	2	667	c.505C>T	c.(505-507)CGA>TGA	p.R169*	ZNF488_uc001jey.2_Nonsense_Mutation_p.R62*	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	zinc finger protein 488	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACCAACCAAGCGACCAGCAGA	0.587												
ARHGAP22	58504	broad.mit.edu	37	10	49687682	49687682	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:49687682C>T	uc001jgt.2	-	4	745	c.448G>A	c.(448-450)GGA>AGA	p.G150R	ARHGAP22_uc001jgs.2_Missense_Mutation_p.G60R|ARHGAP22_uc001jgu.2_Missense_Mutation_p.G150R|ARHGAP22_uc010qgl.1_Intron|ARHGAP22_uc010qgm.1_Missense_Mutation_p.G156R|ARHGAP22_uc001jgv.2_5'UTR|uc001jgw.2_5'Flank	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	150					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			ovary(1)	1						GCAGTACCTCCGCCCAGCGGG	0.662												
SLC18A3	6572	broad.mit.edu	37	10	50819159	50819159	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:50819159G>T	uc001jhw.2	+	1	813	c.373G>T	c.(373-375)GGG>TGG	p.G125W	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	125	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CGTGAAGATCGGGGTGCTGTT	0.652												
NCOA4	8031	broad.mit.edu	37	10	51582227	51582227	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:51582227T>C	uc001jis.3	+	6	728	c.525T>C	c.(523-525)ATT>ATC	p.I175I	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Silent_p.I191I|NCOA4_uc010qhd.1_Silent_p.I191I|NCOA4_uc010qhe.1_Silent_p.I75I|NCOA4_uc010qhf.1_Silent_p.I9I|NCOA4_uc001jit.2_Silent_p.I175I|NCOA4_uc009xoo.2_Silent_p.I175I	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	175					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						CAGCAAATATTGGGCCCTTCC	0.373			T	RET	papillary thyroid 							
A1CF	29974	broad.mit.edu	37	10	52570854	52570854	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:52570854T>C	uc001jjj.2	-	11	1618	c.1430A>G	c.(1429-1431)CAG>CGG	p.Q477R	A1CF_uc010qhn.1_Missense_Mutation_p.Q477R|A1CF_uc001jji.2_Missense_Mutation_p.Q469R|A1CF_uc001jjh.2_Missense_Mutation_p.Q477R|A1CF_uc010qho.1_Missense_Mutation_p.Q485R|A1CF_uc009xov.2_Missense_Mutation_p.Q469R	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	477					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1						CAAGAATAGCTGTCTTTGGTC	0.398												
ANK3	288	broad.mit.edu	37	10	61831671	61831671	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:61831671G>A	uc001jky.2	-	37	9160	c.8968C>T	c.(8968-8970)CTA>TTA	p.L2990L	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2990					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTTTGTGATAGTTCATGTTTT	0.388												
RHOBTB1	9886	broad.mit.edu	37	10	62652608	62652608	+	Missense_Mutation	SNP	C	C	T	rs141139124	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:62652608C>T	uc001jli.2	-	6	880	c.442G>A	c.(442-444)GAC>AAC	p.D148N	RHOBTB1_uc001jlh.2_Missense_Mutation_p.D148N|RHOBTB1_uc001jlj.2_Missense_Mutation_p.D148N|RHOBTB1_uc001jlk.2_Missense_Mutation_p.D148N|RHOBTB1_uc009xpe.1_Intron	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	148	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					GCTTCCAGGTCGGCATAGCGG	0.502												
ARID5B	84159	broad.mit.edu	37	10	63852248	63852248	+	Missense_Mutation	SNP	C	C	G	rs145564601		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:63852248C>G	uc001jlt.1	+	10	3052	c.3026C>G	c.(3025-3027)GCG>GGG	p.A1009G		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1009					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					ATTGGGGCGGCGCGGCCGATC	0.572												
HERC4	26091	broad.mit.edu	37	10	69714858	69714858	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:69714858A>T	uc001jng.3	-	19	2390	c.2079T>A	c.(2077-2079)AAT>AAA	p.N693K	HERC4_uc009xpq.2_Missense_Mutation_p.N226K|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.N685K|HERC4_uc009xpr.2_Missense_Mutation_p.N693K|HERC4_uc001jni.3_Missense_Mutation_p.N429K	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	693					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						GAGAGGAGACATTCTGCCTGT	0.398												
PPP3CB	5532	broad.mit.edu	37	10	75239200	75239200	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:75239200A>G	uc001jue.2	-	2	296	c.161T>C	c.(160-162)GTT>GCT	p.V54A	PPP3CB_uc001juf.2_Missense_Mutation_p.V54A|PPP3CB_uc001jug.2_Missense_Mutation_p.V54A|PPP3CB_uc001jui.2_Missense_Mutation_p.V54A|PPP3CB_uc001juh.2_5'UTR	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	54	Catalytic.									skin(1)	1	Prostate(51;0.0119)					GTTCTTCAGAACATCAACCCT	0.418												
MYST4	23522	broad.mit.edu	37	10	76744931	76744931	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:76744931C>T	uc001jwn.1	+	12	2960	c.2467C>T	c.(2467-2469)CCA>TCA	p.P823S	MYST4_uc001jwm.1_Missense_Mutation_p.P531S|MYST4_uc001jwo.1_Missense_Mutation_p.P531S|MYST4_uc001jwp.1_Missense_Mutation_p.P640S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	823	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TGATGTCGAGCCATTCCTTTT	0.388			T	CREBBP	AML							
KCNMA1	3778	broad.mit.edu	37	10	78651358	78651358	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:78651358C>T	uc001jxn.2	-	26	3444	c.3267G>A	c.(3265-3267)CCG>CCA	p.P1089P	KCNMA1_uc001jxj.2_Silent_p.P1035P|KCNMA1_uc001jxk.1_Silent_p.P707P|KCNMA1_uc009xrt.1_Silent_p.P880P|KCNMA1_uc001jxl.1_Silent_p.P714P|KCNMA1_uc001jxo.2_Silent_p.P1072P|KCNMA1_uc001jxm.2_Silent_p.P1031P|KCNMA1_uc001jxq.2_Silent_p.P1061P|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1089	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCAGTGTCTGCGGGGTGCTGT	0.632												
CDHR1	92211	broad.mit.edu	37	10	85974009	85974009	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:85974009C>T	uc001kcv.2	+	17	2212	c.2212C>T	c.(2212-2214)CGG>TGG	p.R738W	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R442W|CDHR1_uc001kcx.2_Missense_Mutation_p.R52W	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	738	Cytoplasmic (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GCCAATGCGGCGGGTGCTCCG	0.622												
LRIT1	26103	broad.mit.edu	37	10	85997322	85997322	+	Silent	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:85997322G>T	uc001kcz.1	-	2	265	c.243C>A	c.(241-243)CCC>CCA	p.P81P		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	81	LRR 1.|Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						GGCGGCCCAGGGGCCTGAAGG	0.721												
GRID1	2894	broad.mit.edu	37	10	87966268	87966268	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:87966268G>A	uc001kdl.1	-	3	474	c.373C>T	c.(373-375)CGC>TGC	p.R125C	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	125	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CATGCGGTGCGTGGCGACCCT	0.632										Multiple Myeloma(13;0.14)		
CYP26C1	340665	broad.mit.edu	37	10	94825964	94825964	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:94825964C>T	uc010qns.1	+	5	1113	c.1113C>T	c.(1111-1113)TGC>TGT	p.C371C	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	371					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)				ACGTCGACTGCGTGGTCAAGG	0.582												
CYP26A1	1592	broad.mit.edu	37	10	94834065	94834065	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:94834065C>T	uc001kil.2	+	2	235	c.190C>T	c.(190-192)CGG>TGG	p.R64W	CYP26A1_uc001kik.1_5'UTR|CYP26A1_uc001kim.1_5'UTR	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	64					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				CCTCCCACAGCGGAGGAAGTT	0.652												
ALDH18A1	5832	broad.mit.edu	37	10	97397084	97397084	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:97397084C>T	uc001kkz.2	-	4	655	c.413G>A	c.(412-414)CGG>CAG	p.R138Q	ALDH18A1_uc001kky.2_Missense_Mutation_p.R138Q|ALDH18A1_uc010qog.1_Missense_Mutation_p.R27Q|ALDH18A1_uc010qoh.1_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	138	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GAGGGCCTGCCGCACGCTCTG	0.547												
UBTD1	80019	broad.mit.edu	37	10	99330045	99330045	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:99330045C>A	uc001knv.1	+	3	642	c.449C>A	c.(448-450)CCG>CAG	p.P150Q	ANKRD2_uc001knw.2_5'Flank|ANKRD2_uc009xvu.2_5'Flank	NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	150	Ubiquitin-like.										0		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CGTGAGTTCCCGCTGAAGGTG	0.692												
C10orf2	56652	broad.mit.edu	37	10	102749454	102749454	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:102749454T>C	uc001ksf.2	+	2	1972	c.1297T>C	c.(1297-1299)TGT>CGT	p.C433R	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.C433R|C10orf2_uc001ksi.2_5'UTR|C10orf2_uc010qpv.1_5'UTR|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	433	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCTGGATTTGTGTTCCCAGGG	0.567												
TLX1	3195	broad.mit.edu	37	10	102896546	102896546	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:102896546C>T	uc001ksw.2	+	3	1107	c.869C>T	c.(868-870)CCG>CTG	p.P290L		NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	290						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTGGCACAGCCGCTGCCCGCT	0.632			T	TRB@|TRD@	T-ALL							
POLL	27343	broad.mit.edu	37	10	103339389	103339389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:103339389G>A	uc001ktg.1	-	8	2315	c.1549C>T	c.(1549-1551)CGA>TGA	p.R517*	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Nonsense_Mutation_p.R190*|POLL_uc001kte.1_Nonsense_Mutation_p.R209*|POLL_uc001kth.1_Nonsense_Mutation_p.R242*|POLL_uc001kti.1_Nonsense_Mutation_p.R517*|POLL_uc001ktj.1_Nonsense_Mutation_p.R517*|POLL_uc001ktf.2_Nonsense_Mutation_p.R425*|POLL_uc001ktk.1_Nonsense_Mutation_p.R256*|POLL_uc010qqa.1_Nonsense_Mutation_p.R256*|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Nonsense_Mutation_p.R517*|POLL_uc001ktl.2_Nonsense_Mutation_p.R429*|POLL_uc010qqc.1_Nonsense_Mutation_p.R209*	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	517					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCCAGGGCTCGCATGGAGCGG	0.627								DNA_polymerases_(catalytic_subunits)				
NT5C2	22978	broad.mit.edu	37	10	104854154	104854154	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:104854154C>T	uc001kwo.2	-	13	1058	c.872G>A	c.(871-873)CGG>CAG	p.R291Q	NT5C2_uc010qqp.1_Missense_Mutation_p.R262Q|NT5C2_uc001kwq.2_Missense_Mutation_p.R291Q|NT5C2_uc001kwp.2_Missense_Mutation_p.R138Q	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	291					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GAGTGGTTTCCGTGCATCCAC	0.458												
ADD3	120	broad.mit.edu	37	10	111882009	111882009	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:111882009G>A	uc001kyt.3	+	10	1416	c.1102G>A	c.(1102-1104)GAA>AAA	p.E368K	ADD3_uc001kys.3_Missense_Mutation_p.E368K|ADD3_uc001kyu.2_Missense_Mutation_p.E368K|ADD3_uc001kyv.2_Missense_Mutation_p.E368K|ADD3_uc001kyw.2_Missense_Mutation_p.E368K|ADD3_uc001kyx.2_5'Flank	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	368						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAGGTTGGCGAAATTGAGTT	0.413												
ADRA2A	150	broad.mit.edu	37	10	112838876	112838876	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:112838876G>A	uc001kzo.2	+	1	2087	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	359	Cytoplasmic (By similarity).			PRRGPGATGIGTPAAGPGEERVGAAKASRWRGR -> RGAG RGRRGSGRRLQGRGRSASGLPRRRAGAGG (in Ref. 1; AAA51664 and 2; AAA51665).	actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CTGCCAAGGCGTCGCGCTGGC	0.622												
DCLRE1A	9937	broad.mit.edu	37	10	115608932	115608932	+	Silent	SNP	C	C	T	rs144798018		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:115608932C>T	uc001law.2	-	2	2850	c.1932G>A	c.(1930-1932)CTG>CTA	p.L644L		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	644					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTCCTTCCTGCAGTGAATTTG	0.378								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
ADRB1	153	broad.mit.edu	37	10	115804493	115804493	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:115804493C>T	uc001lba.2	+	1	688	c.602C>T	c.(601-603)GCG>GTG	p.A201V		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	201	Extracellular (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	TGGTGGCGGGCGGAGAGCGAC	0.587												
PPAPDC1A	196051	broad.mit.edu	37	10	122348837	122348837	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:122348837C>T	uc001lev.1	+	7	991	c.639C>T	c.(637-639)ATC>ATT	p.I213I	PPAPDC1A_uc009xzl.1_Silent_p.I150I|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Missense_Mutation_p.S63L|PPAPDC1A_uc001ley.1_Silent_p.I92I	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain	213	Helical; (Potential).				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)	1		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTGGAGTCATCGGCCTCATTT	0.468												
DMBT1	1755	broad.mit.edu	37	10	124390712	124390712	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:124390712G>A	uc001lgk.1	+	46	5980	c.5874G>A	c.(5872-5874)ACG>ACA	p.T1958T	DMBT1_uc001lgl.1_Silent_p.T1948T|DMBT1_uc001lgm.1_Silent_p.T1330T|DMBT1_uc009xzz.1_Silent_p.T1958T|DMBT1_uc010qtx.1_Silent_p.T678T|DMBT1_uc009yab.1_Silent_p.T661T|DMBT1_uc009yac.1_Silent_p.T252T	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1958	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTCAGGGACGGAATCCACTC	0.557												
IKZF5	64376	broad.mit.edu	37	10	124754119	124754119	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:124754119C>T	uc001lha.2	-	5	736	c.437G>A	c.(436-438)CGC>CAC	p.R146H	IKZF5_uc001lgz.2_5'UTR	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	146	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		ATCACTGCAGCGGAAGGAACA	0.423												
MKI67	4288	broad.mit.edu	37	10	129902696	129902696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:129902696C>A	uc001lke.2	-	13	7603	c.7408G>T	c.(7408-7410)GAG>TAG	p.E2470*	MKI67_uc001lkf.2_Nonsense_Mutation_p.E2110*|MKI67_uc009yav.1_Nonsense_Mutation_p.E2045*|MKI67_uc009yaw.1_Nonsense_Mutation_p.E1620*	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2470	16 X 122 AA approximate repeats.|13.				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)				TTGAATGACTCTGGCTGTGGA	0.473												
GPR123	84435	broad.mit.edu	37	10	134942441	134942441	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:134942441C>T	uc001llx.3	+	7	1545	c.1109C>T	c.(1108-1110)GCG>GTG	p.A370V	GPR123_uc001llw.2_Missense_Mutation_p.A1089V	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	370	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTGCAGGCCGCGCAGGGCCAC	0.741												
TUBGCP2	10844	broad.mit.edu	37	10	135101642	135101642	+	Silent	SNP	G	G	A	rs145076825		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:135101642G>A	uc001lmg.1	-	11	2070	c.1713C>T	c.(1711-1713)GAC>GAT	p.D571D	TUBGCP2_uc001lmf.1_Silent_p.D164D|TUBGCP2_uc010qvc.1_Silent_p.D599D|TUBGCP2_uc009ybk.1_Silent_p.D571D|TUBGCP2_uc010qvd.1_Silent_p.D441D|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	571					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CCTTGAGGTCGTCCTTGAAGG	0.697												
B4GALNT4	338707	broad.mit.edu	37	11	373457	373457	+	Silent	SNP	C	C	T	rs143213010		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:373457C>T	uc001lpb.2	+	7	654	c.645C>T	c.(643-645)TCC>TCT	p.S215S		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	215	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGACTGGCTCCGAGTGGACAG	0.617												
PKP3	11187	broad.mit.edu	37	11	403637	403637	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:403637G>A	uc001lpc.2	+	10	2019	c.1943G>A	c.(1942-1944)CGC>CAC	p.R648H		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	648	ARM 7.				cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGCTGAGCCGCCTGGCCCTG	0.677												
RNH1	6050	broad.mit.edu	37	11	494953	494953	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:494953G>A	uc001lpk.1	-	8	2636	c.1228C>T	c.(1228-1230)CTG>TTG	p.L410L	RNH1_uc001lpl.1_Silent_p.L410L|RNH1_uc001lpm.1_Silent_p.L410L|RNH1_uc001lpn.1_Silent_p.L410L|RNH1_uc001lpo.1_Silent_p.L410L|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.L410L|RNH1_uc001lpt.1_Silent_p.L167L|RNH1_uc001lpq.1_Silent_p.L410L|RNH1_uc001lpr.1_Silent_p.L410L|RNH1_uc001lps.1_Silent_p.L410L	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	410	LRR 14.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGTCCCCCAGGCAGTTGTTG	0.682												
CDHR5	53841	broad.mit.edu	37	11	621813	621813	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:621813T>A	uc001lqj.2	-	4	509	c.404A>T	c.(403-405)GAG>GTG	p.E135V	CDHR5_uc001lqk.2_Missense_Mutation_p.E135V|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.E135V|CDHR5_uc001lql.2_Missense_Mutation_p.E135V|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Intron	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	135	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						TGGCCTCACCTCCTCCACCCT	0.637												
EPS8L2	64787	broad.mit.edu	37	11	723257	723257	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:723257G>A	uc001lqt.2	+	15	1605	c.1358G>A	c.(1357-1359)CGA>CAA	p.R453Q	EPS8L2_uc001lqu.2_Missense_Mutation_p.R453Q|EPS8L2_uc010qwk.1_Missense_Mutation_p.R469Q|EPS8L2_uc001lqv.2_Missense_Mutation_p.R408Q|EPS8L2_uc001lqw.2_Missense_Mutation_p.R65Q|EPS8L2_uc001lqx.2_Missense_Mutation_p.R65Q|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	453						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGTGAGCCGACAGTCCATA	0.627											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PDDC1	347862	broad.mit.edu	37	11	771068	771068	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:771068C>T	uc001lrc.2	-	7	606	c.581G>A	c.(580-582)CGC>CAC	p.R194H	PDDC1_uc010qwm.1_Missense_Mutation_p.R144H|PDDC1_uc001lrd.2_Intron|PDDC1_uc001lrf.1_3'UTR|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_3'UTR|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Missense_Mutation_p.R158H|PDDC1_uc010qwq.1_Missense_Mutation_p.R108H|PDDC1_uc010qwr.1_Missense_Mutation_p.R194H|PDDC1_uc010qws.1_Missense_Mutation_p.R144H	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	194						extracellular region					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACCAGGTGGCGGTCCAGCAC	0.647												
MUC2	4583	broad.mit.edu	37	11	1092334	1092334	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:1092334C>T	uc001lsx.1	+	30	4180	c.4153C>T	c.(4153-4155)CGT>TGT	p.R1385C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1385						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)	CTACAAGATACGTGTCAATTG	0.418												
MUC5B	727897	broad.mit.edu	37	11	1270971	1270971	+	Silent	SNP	C	C	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:1270971C>G	uc009ycr.1	+	51	14406	c.14280C>G	c.(14278-14280)ACC>ACG	p.T4760T	MUC5B_uc001ltb.2_Silent_p.T4290T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4287	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCCGGCCACCACACCCACAG	0.617												
MUC5B	727897	broad.mit.edu	37	11	1270982	1270982	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:1270982C>T	uc009ycr.1	+	51	14417	c.14291C>T	c.(14290-14292)GCC>GTC	p.A4764V	MUC5B_uc001ltb.2_Missense_Mutation_p.A4294V	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4291	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACACCCACAGCCACCAGTTCC	0.612												
MUC5B	727897	broad.mit.edu	37	11	1271083	1271083	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:1271083C>G	uc009ycr.1	+	51	14518	c.14392C>G	c.(14392-14394)CCC>GCC	p.P4798A	MUC5B_uc001ltb.2_Missense_Mutation_p.P4328A	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4325	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCGTTACACCCATCCCCTC	0.607												
MRGPRE	116534	broad.mit.edu	37	11	3249838	3249838	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:3249838G>A	uc001lxq.3	-	2	499	c.189C>T	c.(187-189)GAC>GAT	p.D63D		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	63	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCAGGCCACGTCCAGGAGGT	0.647												
OR52K1	390036	broad.mit.edu	37	11	4510486	4510486	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:4510486C>A	uc001lza.1	+	1	356	c.356C>A	c.(355-357)GCC>GAC	p.A119D		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTGCTGCTGGCCATGGCCTTT	0.537												
OR52A5	390054	broad.mit.edu	37	11	5153517	5153517	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:5153517G>A	uc010qyx.1	-	1	356	c.356C>T	c.(355-357)GCA>GTA	p.A119V		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGGGCCATTGCCAGAAGGAT	0.453												
OR51B2	79345	broad.mit.edu	37	11	5345106	5345106	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	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												
TRIM5	85363	broad.mit.edu	37	11	5686300	5686300	+	Silent	SNP	T	T	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:5686300T>G	uc001mbm.1	-	8	1478	c.1221A>C	c.(1219-1221)GGA>GGC	p.G407G	TRIM78P_uc009yer.2_Intron|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	407	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TACATTTAACTCCTTCCTCTA	0.403												
OR52W1	120787	broad.mit.edu	37	11	6220577	6220577	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6220577C>T	uc010qzz.1	+	1	124	c.124C>T	c.(124-126)CTG>TTG	p.L42L		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTTATCTGCTGGCCCTGCT	0.557												
CCKBR	887	broad.mit.edu	37	11	6292284	6292284	+	Silent	SNP	G	G	A	rs149197660		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6292284G>A	uc001mcp.2	+	5	1048	c.855G>A	c.(853-855)GCG>GCA	p.A285A	CCKBR_uc001mcq.2_Silent_p.A213A|CCKBR_uc001mcr.2_Silent_p.A285A|CCKBR_uc001mcs.2_Silent_p.A354A|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	285	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AGACTGGCGCGGTTGGCGAAG	0.677												
RRP8	23378	broad.mit.edu	37	11	6622581	6622581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6622581G>A	uc001med.2	-	3	794	c.715C>T	c.(715-717)CGA>TGA	p.R239*	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	239					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						ATGCGGGCTCGCAAAGCCCCT	0.627												
TPP1	1200	broad.mit.edu	37	11	6637718	6637718	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6637718C>A	uc001mel.1	-	8	964	c.903G>T	c.(901-903)CAG>CAT	p.Q301H	TPP1_uc001mek.1_Missense_Mutation_p.Q58H	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	301					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GGAAGGGCTCCTGTCCCTCAT	0.507												
NLRP10	338322	broad.mit.edu	37	11	7982663	7982663	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:7982663G>C	uc001mfv.1	-	2	513	c.496C>G	c.(496-498)CCA>GCA	p.P166A		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	166							ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTAAGGATGGGGCCAGTGAG	0.582												
ABCC8	6833	broad.mit.edu	37	11	17482133	17482133	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:17482133A>G	uc001mnc.2	-	6	1039	c.913T>C	c.(913-915)TTC>CTC	p.F305L	ABCC8_uc010rcy.1_Missense_Mutation_p.F304L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	305	Cytoplasmic (By similarity).|ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AAGATGCGGAAAGTGCTGCTG	0.637												
HPS5	11234	broad.mit.edu	37	11	18303557	18303557	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:18303557T>G	uc001mod.1	-	22	3547	c.3269A>C	c.(3268-3270)GAG>GCG	p.E1090A	HPS5_uc001moe.1_Missense_Mutation_p.E976A|HPS5_uc001mof.1_Missense_Mutation_p.E976A	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	1090						cytosol				ovary(1)|pancreas(1)|skin(1)	3						CTCTGACAACTCAAGGGCCAG	0.507									Hermansky-Pudlak_syndrome			
TSG101	7251	broad.mit.edu	37	11	18531130	18531130	+	Missense_Mutation	SNP	G	G	A	rs140156278		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:18531130G>A	uc001mor.2	-	5	566	c.440C>T	c.(439-441)TCG>TTG	p.S147L	TSG101_uc001mos.1_Missense_Mutation_p.S95L|TSG101_uc009yhs.1_RNA	NM_006292	NP_006283	Q99816	TS101_HUMAN	tumor susceptibility gene 101	147					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding				0						ATAGGATGCCGAAATAGGACG	0.398												
TSG101	7251	broad.mit.edu	37	11	18531132	18531132	+	Silent	SNP	A	A	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:18531132A>T	uc001mor.2	-	5	564	c.438T>A	c.(436-438)ATT>ATA	p.I146I	TSG101_uc001mos.1_Silent_p.I94I|TSG101_uc009yhs.1_RNA	NM_006292	NP_006283	Q99816	TS101_HUMAN	tumor susceptibility gene 101	146					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding				0						AGGATGCCGAAATAGGACGAG	0.398												
IGSF22	283284	broad.mit.edu	37	11	18731162	18731162	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:18731162G>A	uc009yht.2	-	18	2960	c.2770C>T	c.(2770-2772)CGG>TGG	p.R924W	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	823	Fibronectin type-III 2.									ovary(4)|large_intestine(2)|kidney(1)	7						GCAGGCTCCCGCCAGGCCAGG	0.577												
IGSF22	283284	broad.mit.edu	37	11	18736102	18736102	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:18736102C>T	uc009yht.2	-	12	1791	c.1601G>A	c.(1600-1602)TGT>TAT	p.C534Y	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	534										ovary(4)|large_intestine(2)|kidney(1)	7						CAGCACTACACACAACTCAGC	0.617												
PTPN5	84867	broad.mit.edu	37	11	18763909	18763909	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:18763909C>T	uc001mpd.2	-	7	1056	c.625G>A	c.(625-627)GAC>AAC	p.D209N	PTPN5_uc001mpb.2_Missense_Mutation_p.D177N|PTPN5_uc001mpc.2_Missense_Mutation_p.D209N|PTPN5_uc001mpe.2_Missense_Mutation_p.D177N|PTPN5_uc010rdj.1_Missense_Mutation_p.D153N|PTPN5_uc001mpf.2_Missense_Mutation_p.D185N|PTPN5_uc010rdk.1_Missense_Mutation_p.D154N	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	209						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						GGCACCGGGTCGAGGTCCAGG	0.597												
ANO3	63982	broad.mit.edu	37	11	26558959	26558959	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:26558959G>A	uc001mqt.3	+	10	1128	c.983G>A	c.(982-984)CGT>CAT	p.R328H	ANO3_uc010rdr.1_Missense_Mutation_p.R312H|ANO3_uc010rds.1_Missense_Mutation_p.R167H|ANO3_uc010rdt.1_Missense_Mutation_p.R182H	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	328	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity	p.R328H(1)		ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCAGGTATCCGTAAACTTATA	0.353												
SYT13	57586	broad.mit.edu	37	11	45277422	45277422	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:45277422C>T	uc001myq.2	-	2	330	c.204G>A	c.(202-204)ACG>ACA	p.T68T	SYT13_uc009yku.1_5'UTR	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	68	Cytoplasmic (Potential).					transport vesicle				ovary(1)	1						GAACAGGTTCCGTGGACTTTT	0.502												
HARBI1	283254	broad.mit.edu	37	11	46625304	46625304	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:46625304C>A	uc001ncy.2	-	3	1074	c.826G>T	c.(826-828)GGA>TGA	p.G276*		NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	276						cytoplasm|nucleus	metal ion binding|nuclease activity				0						CCCTTGGATCCATCCAGGCAG	0.517												
PTPRJ	5795	broad.mit.edu	37	11	48171665	48171665	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:48171665T>C	uc001ngp.3	+	18	3423	c.3068T>C	c.(3067-3069)GTG>GCG	p.V1023A		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1023	Cytoplasmic (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						TTAATCAGAGTGGAGAATTTT	0.328												
SPRYD5	84767	broad.mit.edu	37	11	55653152	55653152	+	Missense_Mutation	SNP	G	G	T	rs139676401	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:55653152G>T	uc010rip.1	+	2	340	c.248G>T	c.(247-249)CGG>CTG	p.R83L	SPRYD5_uc010riq.1_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	83						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				GCCAGCCTCCGGCAATTCCTT	0.488												
OR10Q1	219960	broad.mit.edu	37	11	57995911	57995911	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:57995911G>A	uc010rkd.1	-	1	437	c.437C>T	c.(436-438)ACG>ATG	p.T146M		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				CAGCATCTGCGTGCACAGCTC	0.617												
CCDC86	79080	broad.mit.edu	37	11	60610001	60610001	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:60610001C>A	uc001nqa.2	+	1	573	c.404C>A	c.(403-405)GCC>GAC	p.A135D	CCDC86_uc001nqb.2_Intron	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	135	Pro-rich.				interspecies interaction between organisms	nucleus					0						GGAGTACTGGCCTCGGAGTTG	0.612												
CD6	923	broad.mit.edu	37	11	60785823	60785823	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:60785823C>T	uc001nqq.2	+	12	2123	c.1900C>T	c.(1900-1902)CCA>TCA	p.P634S	CD6_uc001nqr.2_Intron|CD6_uc001nqs.2_Intron|CD6_uc001nqt.2_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	634	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						GAACTTCCAGCCACCACCCCA	0.622												
LRRN4CL	221091	broad.mit.edu	37	11	62455516	62455516	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:62455516G>A	uc001nun.2	-	2	772	c.465C>T	c.(463-465)GCC>GCT	p.A155A		NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like precursor	155	Fibronectin type-III.|Extracellular (Potential).					integral to membrane					0						CCTCGTTAGCGGCCACTACGC	0.697												
BSCL2	26580	broad.mit.edu	37	11	62458808	62458808	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:62458808T>C	uc001nuo.1	-	7	1181	c.757A>G	c.(757-759)AGC>GGC	p.S253G	LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_Intron|BSCL2_uc001nup.2_Missense_Mutation_p.S253G|BSCL2_uc001nuq.1_Missense_Mutation_p.S253G|BSCL2_uc001nur.3_Missense_Mutation_p.S317G|BSCL2_uc009yod.2_Missense_Mutation_p.S317G|BSCL2_uc001nut.3_Missense_Mutation_p.S317G|HNRNPUL2_uc001nuu.1_RNA	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN	seipin isoform 2	253	Helical; (Potential).				cell death	integral to endoplasmic reticulum membrane					0						TGCATGTAGCTGAAGAGCACG	0.552												
SLC22A12	116085	broad.mit.edu	37	11	64359056	64359056	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:64359056G>A	uc001oam.1	+	1	775	c.28G>A	c.(28-30)GTG>ATG	p.V10M	SLC22A12_uc009ypr.1_Missense_Mutation_p.V10M|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Missense_Mutation_p.V10M|SLC22A12_uc001oan.1_Missense_Mutation_p.V10M|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	10	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						CCTGGACCTCGTGGGTGGCCT	0.597												
NRXN2	9379	broad.mit.edu	37	11	64397948	64397948	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:64397948A>G	uc001oap.2	-	4	1056	c.545T>C	c.(544-546)GTG>GCG	p.V182A	NRXN2_uc001oar.2_Missense_Mutation_p.V1228A|NRXN2_uc001oas.2_Missense_Mutation_p.V1188A|NRXN2_uc001oaq.2_Missense_Mutation_p.V895A	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	182	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						AGTGAAGCGCACCACGTGGTA	0.557												
NRXN2	9379	broad.mit.edu	37	11	64410059	64410059	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:64410059C>T	uc001oap.2	-	2	728	c.217G>A	c.(217-219)GTG>ATG	p.V73M	NRXN2_uc001oar.2_Intron|NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_Intron	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	73	Extracellular (Potential).				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GCGATGGGCACGGTGCCGTGC	0.662												
RASGRP2	10235	broad.mit.edu	37	11	64509498	64509498	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:64509498C>T	uc009ypu.2	-	3	387	c.160G>A	c.(160-162)GCC>ACC	p.A54T	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'Flank|RASGRP2_uc009ypv.2_Missense_Mutation_p.A54T|RASGRP2_uc009ypw.2_Missense_Mutation_p.A54T|RASGRP2_uc001oaw.1_3'UTR	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	54	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						AGCAGCTTGGCCGCCAGCTGA	0.657												
CAPN1	823	broad.mit.edu	37	11	64972271	64972271	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:64972271G>A	uc009yqd.1	+	11	1394	c.1283G>A	c.(1282-1284)CGT>CAT	p.R428H	CAPN1_uc001odf.1_Missense_Mutation_p.R428H|CAPN1_uc001odg.1_Missense_Mutation_p.R428H|CAPN1_uc010roa.1_Missense_Mutation_p.R169H	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	428	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CAGAAGCACCGTCGCCGCGAG	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DKFZp761E198	91056	broad.mit.edu	37	11	65546371	65546371	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:65546371C>T	uc001ofo.3	-	1	1452	c.1422G>A	c.(1420-1422)CCG>CCA	p.P474P		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	474							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		CATCCCTGCCCGGCCTGGACA	0.607												
RBM14	10432	broad.mit.edu	37	11	66391987	66391987	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:66391987C>T	uc001oit.2	+	2	779	c.640C>T	c.(640-642)CGC>TGC	p.R214C	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	214					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						TGGTCGCGACCGCAGCCCTCT	0.642												
CARNS1	57571	broad.mit.edu	37	11	67192057	67192057	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:67192057G>A	uc009yrp.2	+	9	2921	c.2469G>A	c.(2467-2469)CTG>CTA	p.L823L	CARNS1_uc001olc.3_Silent_p.L962L	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	823					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						CCCACTTCCTGTCTCACTTCA	0.667												
PITPNM1	9600	broad.mit.edu	37	11	67260427	67260427	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:67260427C>T	uc001olx.2	-	22	3638	c.3449G>A	c.(3448-3450)CGG>CAG	p.R1150Q	PITPNM1_uc001olw.2_Missense_Mutation_p.R432Q|PITPNM1_uc001oly.2_Missense_Mutation_p.R1150Q|PITPNM1_uc001olz.2_Missense_Mutation_p.R1149Q	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	1150					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						CTGTAGCTTCCGCACGGCACG	0.657												
SUV420H1	51111	broad.mit.edu	37	11	67925165	67925165	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:67925165A>C	uc001onm.1	-	11	2904	c.2648T>G	c.(2647-2649)CTT>CGT	p.L883R	SUV420H1_uc009yse.1_Missense_Mutation_p.L469R|SUV420H1_uc001onn.1_Missense_Mutation_p.L711R|SUV420H1_uc009ysf.2_Missense_Mutation_p.L643R	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	883					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						TTAGGCATTAAGCCTTAAAGA	0.368												
MRGPRD	116512	broad.mit.edu	37	11	68748126	68748126	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:68748126T>C	uc010rqf.1	-	1	330	c.330A>G	c.(328-330)ACA>ACG	p.T110T		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	110	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCAGGCCCACTGTGTAGGCAA	0.582												
MYEOV	26579	broad.mit.edu	37	11	69063147	69063147	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:69063147G>A	uc001oov.2	+	3	680	c.230G>A	c.(229-231)CGG>CAG	p.R77Q	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.R77Q|MYEOV_uc001oow.2_Missense_Mutation_p.R19Q	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	77											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGCAGATCCCGGGGCCGCCTC	0.612												
CCND1	595	broad.mit.edu	37	11	69456219	69456219	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:69456219A>G	uc001opa.2	+	1	347	c.138A>G	c.(136-138)AAA>AAG	p.K46K		NM_053056	NP_444284	P24385	CCND1_HUMAN	cyclin D1	46	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			ovary(1)|lung(1)	2	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CCTACTTCAAATGTGTGCAGA	0.647			T	IGH@|FSTL3	CLL|B-ALL|breast					Multiple Myeloma(6;0.086)		
NUMA1	4926	broad.mit.edu	37	11	71726294	71726294	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:71726294C>T	uc001orl.1	-	15	2427	c.2255G>A	c.(2254-2256)CGG>CAG	p.R752Q	NUMA1_uc009ysw.1_Missense_Mutation_p.R315Q|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.R752Q|NUMA1_uc001orn.2_Missense_Mutation_p.R315Q|NUMA1_uc009ysx.1_Missense_Mutation_p.R752Q|NUMA1_uc001oro.1_Missense_Mutation_p.R752Q	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	752	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CTTTCGTTCCCGCTTATGCTG	0.602			T	RARA	APL							
INPPL1	3636	broad.mit.edu	37	11	71948327	71948327	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:71948327C>T	uc001osf.2	+	26	3186	c.3039C>T	c.(3037-3039)ACC>ACT	p.T1013T	INPPL1_uc001osg.2_Silent_p.T771T	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1013	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						CATCTGCCACCAAGAACAAAG	0.627												
PLEKHB1	58473	broad.mit.edu	37	11	73364059	73364059	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:73364059G>A	uc001oua.2	+	5	821	c.390G>A	c.(388-390)CCG>CCA	p.P130P	PLEKHB1_uc001oub.2_Silent_p.P130P|PLEKHB1_uc010rrh.1_Silent_p.P111P|PLEKHB1_uc001ouc.2_Silent_p.P111P|PLEKHB1_uc001oud.2_Silent_p.P111P|PLEKHB1_uc009ytq.2_Silent_p.P111P	NM_021200	NP_067023	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B	130					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			ovary(1)|lung(1)	2						ACTCCACCCCGGTGAGTCTCC	0.577												
MOGAT2	80168	broad.mit.edu	37	11	75438572	75438572	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:75438572G>A	uc010rru.1	+	3	363	c.363G>A	c.(361-363)CTG>CTA	p.L121L	MOGAT2_uc001oww.1_Silent_p.L121L|MOGAT2_uc010rrv.1_Silent_p.L39L	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	121	Helical; (Potential).				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)					TTGCCAACCTGTGCACTGAGA	0.592												
WNT11	7481	broad.mit.edu	37	11	75902892	75902892	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:75902892G>A	uc001oxe.2	-	4	729	c.606C>T	c.(604-606)CGC>CGT	p.R202R	WNT11_uc001oxf.1_Silent_p.R202R	NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	202					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			lung(1)|skin(1)	2						CCAGAGAGGCGCGCAGAGCCT	0.672												
OMP	4975	broad.mit.edu	37	11	76814001	76814001	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:76814001G>A	uc010rsk.1	+	1	116	c.116G>A	c.(115-117)CGC>CAC	p.R39H	CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	olfactory marker protein	39					sensory perception of smell|synaptic transmission						0						GGGGAGAAGCGCCAGGATGGG	0.662												
ODZ4	26011	broad.mit.edu	37	11	78412977	78412977	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:78412977G>A	uc001ozl.3	-	28	5144	c.4681C>T	c.(4681-4683)CGG>TGG	p.R1561W	ODZ4_uc009yvb.1_Missense_Mutation_p.R145W	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1561	NHL 5.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CGGATAAACCGAATTCGGATG	0.493												
RAB30	27314	broad.mit.edu	37	11	82693314	82693314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:82693314G>A	uc001ozu.2	-	6	766	c.505C>T	c.(505-507)CGA>TGA	p.R169*	RAB30_uc009yve.2_Nonsense_Mutation_p.R167*|RAB30_uc010rst.1_Nonsense_Mutation_p.R167*|RAB30_uc001ozv.2_3'UTR	NM_014488	NP_055303	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	169					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity				0						CTGATGAGTCGGCATGCTAAG	0.438												
DLG2	1740	broad.mit.edu	37	11	83544674	83544674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:83544674C>A	uc001paj.2	-	12	1693	c.1390G>T	c.(1390-1392)GGA>TGA	p.G464*	DLG2_uc001pai.2_Nonsense_Mutation_p.G361*|DLG2_uc010rsy.1_Nonsense_Mutation_p.G431*|DLG2_uc010rsz.1_Nonsense_Mutation_p.G464*|DLG2_uc010rta.1_Nonsense_Mutation_p.G464*|DLG2_uc001pak.2_Nonsense_Mutation_p.G569*|DLG2_uc010rtb.1_Nonsense_Mutation_p.G431*|DLG2_uc001pal.1_Nonsense_Mutation_p.G464*|DLG2_uc001pam.1_Nonsense_Mutation_p.G503*	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	464	PDZ 3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATCTGGTCTCCTCTCTGGAGC	0.443												
EED	8726	broad.mit.edu	37	11	85979585	85979585	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:85979585C>T	uc001pbp.2	+	9	1405	c.948C>T	c.(946-948)GGC>GGT	p.G316G	EED_uc010rtm.1_Silent_p.G316G|EED_uc001pbq.2_Silent_p.G316G|EED_uc001pbr.2_Silent_p.G316G|EED_uc001pbs.2_Intron|EED_uc010rtn.1_Intron	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	316	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.|WD 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GATGGTTAGGCGATTTGATAC	0.299												
FAT3	120114	broad.mit.edu	37	11	92532189	92532189	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:92532189G>A	uc001pdj.3	+	9	6027	c.6010G>A	c.(6010-6012)GTC>ATC	p.V2004I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2004	Extracellular (Potential).|Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTTGCTATTGTCAATGCAGT	0.408										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92599971	92599971	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:92599971C>T	uc001pdj.3	+	21	11740	c.11723C>T	c.(11722-11724)TCG>TTG	p.S3908L	FAT3_uc001pdi.3_Missense_Mutation_p.S348L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3908	Laminin G-like.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGGGCATCTCGGGCCGTGCT	0.607										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92600059	92600059	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:92600059C>T	uc001pdj.3	+	21	11828	c.11811C>T	c.(11809-11811)TAC>TAT	p.Y3937Y	FAT3_uc001pdi.3_Silent_p.Y377Y	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3937	Laminin G-like.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGACAGCTACGTGGAGCGGC	0.622										TCGA Ovarian(4;0.039)		
MTNR1B	4544	broad.mit.edu	37	11	92714707	92714707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:92714707G>A	uc001pdk.1	+	2	421	c.318G>A	c.(316-318)TGG>TGA	p.W106*		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	106	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	ATGACGGCTGGGCCCTGGGGG	0.567												
AMOTL1	154810	broad.mit.edu	37	11	94554713	94554713	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:94554713C>T	uc001pfb.2	+	4	1309	c.1139C>T	c.(1138-1140)CCG>CTG	p.P380L	AMOTL1_uc001pfc.2_Missense_Mutation_p.P330L	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	380						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGCCAACTTCCGTTCCCATCA	0.607												
MTMR2	8898	broad.mit.edu	37	11	95580917	95580917	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:95580917C>A	uc001pfu.2	-	10	1393	c.1140G>T	c.(1138-1140)TTG>TTT	p.L380F	MTMR2_uc001pfv.2_Missense_Mutation_p.L308F|MTMR2_uc001pfs.2_Missense_Mutation_p.L308F|MTMR2_uc001pft.2_Missense_Mutation_p.L308F|MTMR2_uc010ruj.1_Missense_Mutation_p.L363F	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	380	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAAGTTAGACAACCAGTGGG	0.373												
CWF19L2	143884	broad.mit.edu	37	11	107224389	107224389	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:107224389C>T	uc010rvp.1	-	13	1976	c.1946G>A	c.(1945-1947)CGT>CAT	p.R649H	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	649	Potential.						catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTCACCAAGACGTTCTCTCTC	0.398												
ZC3H12C	85463	broad.mit.edu	37	11	110036179	110036179	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:110036179G>A	uc009yxw.2	+	6	2420	c.2369G>A	c.(2368-2370)CGG>CAG	p.R790Q	ZC3H12C_uc010rwc.1_Missense_Mutation_p.R791Q|ZC3H12C_uc010rwd.1_Missense_Mutation_p.R791Q|ZC3H12C_uc001pkr.3_Missense_Mutation_p.R759Q	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	790							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TATGGGTACCGGCAGACTTAT	0.567												
SIK2	23235	broad.mit.edu	37	11	111594685	111594685	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:111594685A>G	uc001plt.2	+	15	2731	c.2613A>G	c.(2611-2613)GGA>GGG	p.G871G		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	871					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						CTGTGGATGGAGCCCAGCAGA	0.617												
DIXDC1	85458	broad.mit.edu	37	11	111855970	111855970	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:111855970T>C	uc001pml.2	+	9	1230	c.933T>C	c.(931-933)AAT>AAC	p.N311N	DIXDC1_uc001pmm.2_Silent_p.N100N|DIXDC1_uc001pmn.2_Silent_p.N17N	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	311	Potential.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TACTGCTCAATGGATCCTTAC	0.473												
DLAT	1737	broad.mit.edu	37	11	111904183	111904183	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:111904183A>G	uc001pmo.2	+	5	1375	c.716A>G	c.(715-717)GAA>GGA	p.E239G	DLAT_uc009yyk.1_Intron|DLAT_uc010rwr.1_Intron	NM_001931	NP_001922	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase precursor	239	Lipoyl-binding 2.				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding				0		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	CAGAGATGGGAAAAAAAAGTG	0.433												
SIDT2	51092	broad.mit.edu	37	11	117059506	117059506	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:117059506C>T	uc001pqh.1	+	13	1283	c.1242C>T	c.(1240-1242)ACC>ACT	p.T414T	SIDT2_uc010rxe.1_Silent_p.T414T|SIDT2_uc001pqg.2_Silent_p.T435T|SIDT2_uc001pqi.1_Silent_p.T411T	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	414	Cytoplasmic (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		ACACATTGACCGACATCGATT	0.587												
MLL	4297	broad.mit.edu	37	11	118344530	118344530	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:118344530C>T	uc001pta.2	+	3	2679	c.2656C>T	c.(2656-2658)CGG>TGG	p.R886W	MLL_uc001ptb.2_Missense_Mutation_p.R886W|MLL_uc001psz.1_Missense_Mutation_p.R919W|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	886					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ggagaataagcgggagtcaag	0.284			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
PHLDB1	23187	broad.mit.edu	37	11	118527419	118527419	+	Silent	SNP	C	C	T	rs148039830		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:118527419C>T	uc001ptr.1	+	24	4373	c.4020C>T	c.(4018-4020)TGC>TGT	p.C1340C	PHLDB1_uc001pts.2_Silent_p.C1340C|PHLDB1_uc001ptt.2_Silent_p.C1282C|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.C1144C|PHLDB1_uc001ptw.1_Silent_p.C684C|PHLDB1_uc009zai.1_Silent_p.C365C|PHLDB1_uc001ptx.1_Silent_p.C365C	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1340	PH.										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)		TCACCTTCTGCGTAAAGACCC	0.567												
ABCG4	64137	broad.mit.edu	37	11	119031362	119031362	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:119031362G>A	uc001pvs.2	+	14	2047	c.1711G>A	c.(1711-1713)GTC>ATC	p.V571I	ABCG4_uc009zar.2_Missense_Mutation_p.V571I	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	571	Extracellular (Potential).|ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCTCTCCTATGTCAGGTCAGT	0.592												
RNF26	79102	broad.mit.edu	37	11	119207088	119207088	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:119207088C>T	uc001pwh.2	+	1	1852	c.1256C>T	c.(1255-1257)CCG>CTG	p.P419L		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	419	RING-type.						zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CGCAATTGCCCGCTCTGCCGC	0.637												
TRIM29	23650	broad.mit.edu	37	11	120008518	120008518	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:120008518C>T	uc001pwz.2	-	1	346	c.222G>A	c.(220-222)GAG>GAA	p.E74E	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	74					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTCGCCGCCACTCATTGCCCG	0.632												
TECTA	7007	broad.mit.edu	37	11	120998774	120998774	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:120998774C>T	uc010rzo.1	+	8	2088	c.2088C>T	c.(2086-2088)TGC>TGT	p.C696C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	696					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGAGGTGTGCGCCGTGGAGG	0.652												
SORL1	6653	broad.mit.edu	37	11	121393406	121393406	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:121393406G>A	uc001pxx.2	+	10	1596	c.1516G>A	c.(1516-1518)GCC>ACC	p.A506T		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	506	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTCATCATCGCCACTGGTAA	0.572												
OR10G7	390265	broad.mit.edu	37	11	123909320	123909320	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:123909320C>A	uc001pzq.1	-	1	389	c.389G>T	c.(388-390)AGG>ATG	p.R130M		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTTGGTGTACCTGAGCGGGTA	0.552												
KIRREL3	84623	broad.mit.edu	37	11	126333072	126333072	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:126333072G>A	uc001qea.2	-	6	1083	c.722C>T	c.(721-723)TCG>TTG	p.S241L	KIRREL3_uc001qeb.2_Missense_Mutation_p.S241L|KIRREL3_uc001qec.1_Missense_Mutation_p.S241L	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	241	Ig-like C2-type 2.|Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AATGGTGACCGACGTCTCCTT	0.617												
APLP2	334	broad.mit.edu	37	11	129980502	129980502	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:129980502C>T	uc010sby.1	+	3	506	c.349C>T	c.(349-351)CGG>TGG	p.R117W	APLP2_uc001qfp.2_Missense_Mutation_p.R117W|APLP2_uc001qfq.2_Missense_Mutation_p.R117W|APLP2_uc010sbz.1_Intron|APLP2_uc001qfr.2_Intron|APLP2_uc001qfs.2_Missense_Mutation_p.R117W|APLP2_uc001qfv.2_Missense_Mutation_p.R64W	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	117	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CAACTGGTGCCGGAGGGACAA	0.453												
GLB1L2	89944	broad.mit.edu	37	11	134234257	134234257	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:134234257C>T	uc001qhp.2	+	8	957	c.769C>T	c.(769-771)CTG>TTG	p.L257L	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	257					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		AACACACGAGCTGCAGCTACT	0.552												
B3GAT1	27087	broad.mit.edu	37	11	134257541	134257541	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:134257541G>A	uc001qhq.2	-	3	274	c.13C>T	c.(13-15)CGG>TGG	p.R5W	B3GAT1_uc001qhr.2_Missense_Mutation_p.R5W|B3GAT1_uc010scv.1_Missense_Mutation_p.R18W	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	5	Cytoplasmic (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		AGGATGTCCCGTCTCTTCGGC	0.642												
WNT5B	81029	broad.mit.edu	37	12	1748958	1748958	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:1748958C>T	uc009zdq.2	+	4	679	c.437C>T	c.(436-438)ACG>ATG	p.T146M	WNT5B_uc001qjj.2_Missense_Mutation_p.T146M|WNT5B_uc001qjk.2_Missense_Mutation_p.T146M|WNT5B_uc001qjl.2_Missense_Mutation_p.T146M	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family,	146					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGCAGCCGGACGGCGCGGCCC	0.726												
ADIPOR2	79602	broad.mit.edu	37	12	1893046	1893046	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:1893046G>A	uc001qjm.2	+	7	1036	c.839G>A	c.(838-840)GGA>GAA	p.G280E	ADIPOR2_uc001qjn.2_Missense_Mutation_p.G280E	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	280	Helical; Name=5; (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TGACTCCTAGGAGTGTTTTTG	0.463												
FGF23	8074	broad.mit.edu	37	12	4479543	4479543	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:4479543G>A	uc001qmq.1	-	3	868	c.722C>T	c.(721-723)CCG>CTG	p.P241L		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	241					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|breast(1)|skin(1)	4			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GCAGCCTTCCGGGCCCGTTCC	0.647												
RAD51AP1	10635	broad.mit.edu	37	12	4662161	4662161	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:4662161A>G	uc001qmw.2	+	8	776	c.620A>G	c.(619-621)GAG>GGG	p.E207G	RAD51AP1_uc001qmu.2_Missense_Mutation_p.E190G|RAD51AP1_uc001qmv.2_Missense_Mutation_p.E153G|RAD51AP1_uc010sep.1_Missense_Mutation_p.E72G|RAD51AP1_uc010seq.1_Missense_Mutation_p.E72G|RAD51AP1_uc009zeg.2_RNA	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	207					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			GAAGATTCTGAGGATGATTCT	0.313												
ZNF384	171017	broad.mit.edu	37	12	6777207	6777207	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:6777207T>C	uc010sfh.1	-	11	1615	c.1407A>G	c.(1405-1407)GCA>GCG	p.A469A	ZNF384_uc001qpz.2_Silent_p.A408A|ZNF384_uc001qqa.2_Silent_p.A408A|ZNF384_uc001qqb.2_Silent_p.A392A|ZNF384_uc001qqc.2_Silent_p.A408A|ZNF384_uc001qqd.2_Silent_p.A353A|ZNF384_uc001qqe.2_Silent_p.A392A	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	469	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						ctgctgccgctgctgctgctg	0.189			T	EWSR1|TAF15 	ALL							
LPCAT3	10162	broad.mit.edu	37	12	7086569	7086569	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:7086569A>G	uc001qsi.2	-	11	1421	c.1307T>C	c.(1306-1308)ATG>ACG	p.M436T	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.M330T|LPCAT3_uc009zfp.2_RNA	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	436	Helical; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1						GAAGGCAGTCATGGAGTAACC	0.542												
C1R	715	broad.mit.edu	37	12	7242710	7242710	+	Silent	SNP	G	G	A	rs150953301	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:7242710G>A	uc010sfy.1	-	3	425	c.366C>T	c.(364-366)AAC>AAT	p.N122N	C1R_uc010sfz.1_Silent_p.N136N|C1R_uc010sga.1_Silent_p.N88N	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	122	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATTCTCCTCGTTGGAGAAGT	0.552												
FOXJ2	55810	broad.mit.edu	37	12	8200544	8200544	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:8200544C>A	uc001qtu.2	+	7	1969	c.884C>A	c.(883-885)CCA>CAA	p.P295Q	FOXJ2_uc001qtt.1_Missense_Mutation_p.P295Q	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	295	Poly-Pro.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA 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 factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		cagcagcagccaccgccacct	0.458												
A2ML1	144568	broad.mit.edu	37	12	9004599	9004599	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:9004599T>C	uc001quz.3	+	19	2552	c.2454T>C	c.(2452-2454)GAT>GAC	p.D818D	A2ML1_uc001qva.1_Silent_p.D398D|A2ML1_uc010sgm.1_Silent_p.D318D	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	662						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						ACCTAAAGGATTGCATCAGGG	0.478												
CSDA	8531	broad.mit.edu	37	12	10854623	10854623	+	Missense_Mutation	SNP	C	C	T	rs144824557		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:10854623C>T	uc001qyt.2	-	8	1232	c.989G>A	c.(988-990)CGG>CAG	p.R330Q	CSDA_uc001qyu.2_Missense_Mutation_p.R261Q	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	330					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)					GTAGGGACGCCGGTATCCACG	0.572												
PLEKHA5	54477	broad.mit.edu	37	12	19427533	19427533	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:19427533T>C	uc001reb.2	+	10	997	c.911T>C	c.(910-912)ATC>ACC	p.I304T	PLEKHA5_uc010sie.1_Missense_Mutation_p.I310T|PLEKHA5_uc001rea.2_Missense_Mutation_p.I304T|PLEKHA5_uc009zin.2_Missense_Mutation_p.I62T|PLEKHA5_uc010sif.1_Missense_Mutation_p.I196T|PLEKHA5_uc010sig.1_Missense_Mutation_p.I196T|PLEKHA5_uc010sih.1_Missense_Mutation_p.I196T|PLEKHA5_uc001rec.1_5'UTR	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	304							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAACCAGAGATCCAAAACAAT	0.343												
RECQL	5965	broad.mit.edu	37	12	21644542	21644542	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:21644542A>G	uc001rex.2	-	4	473	c.125T>C	c.(124-126)CTG>CCG	p.L42P	RECQL_uc001rey.2_Missense_Mutation_p.L42P	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	42					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						TTTCTTTGTCAGGACTTTTTT	0.378								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
KCNJ8	3764	broad.mit.edu	37	12	21926431	21926431	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:21926431G>A	uc001rff.2	-	2	458	c.120C>T	c.(118-120)AGC>AGT	p.S40S		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	40	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)	TGCAGGCCCCGCTCTTGGCGA	0.622											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ITPR2	3709	broad.mit.edu	37	12	26749969	26749969	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:26749969A>G	uc001rhg.2	-	31	4518	c.4101T>C	c.(4099-4101)GAT>GAC	p.D1367D		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1367	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GGCCACTCTCATCCCCTCGGT	0.463												
FGFR1OP2	26127	broad.mit.edu	37	12	27113510	27113510	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:27113510T>C	uc001rhm.2	+	5	801	c.459T>C	c.(457-459)CTT>CTC	p.L153L	FGFR1OP2_uc001rhl.2_Silent_p.L153L|FGFR1OP2_uc001rhn.2_Intron	NM_015633	NP_056448	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	153						cytoplasm					0	Colorectal(261;0.0847)					GACACATCCTTGAAGCACCTC	0.423												
PPFIBP1	8496	broad.mit.edu	37	12	27824371	27824371	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:27824371C>G	uc001ric.1	+	14	1582	c.1205C>G	c.(1204-1206)ACT>AGT	p.T402S	PPFIBP1_uc010sjr.1_Missense_Mutation_p.T233S|PPFIBP1_uc001rib.1_Missense_Mutation_p.T385S|PPFIBP1_uc001ria.2_Missense_Mutation_p.T371S|PPFIBP1_uc001rid.1_Missense_Mutation_p.T249S	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	402	Potential.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					CAGTTCCATACTACCATCTTG	0.323												
LRRK2	120892	broad.mit.edu	37	12	40728880	40728880	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:40728880C>T	uc001rmg.3	+	40	5990	c.5869C>T	c.(5869-5871)CGC>TGC	p.R1957C	LRRK2_uc009zjw.2_Missense_Mutation_p.R795C|LRRK2_uc001rmi.2_Missense_Mutation_p.R790C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1957	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.R1957C(1)|p.R1964C(1)		ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCCTTGGATCGCCTGCTTCA	0.527												
TWF1	5756	broad.mit.edu	37	12	44193205	44193205	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:44193205T>A	uc001rob.2	-	5	609	c.581A>T	c.(580-582)AAT>ATT	p.N194I	TWF1_uc001rnz.2_Missense_Mutation_p.N62I|TWF1_uc001roa.2_Missense_Mutation_p.N194I|TWF1_uc001roc.2_Missense_Mutation_p.N62I	NM_002822	NP_002813	Q12792	TWF1_HUMAN	twinfilin 1	160						actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			stomach(1)	1	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		ACTTACCTCATTGATTTTAAT	0.338												
ARID2	196528	broad.mit.edu	37	12	46215264	46215264	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:46215264C>T	uc001ros.1	+	6	699	c.699C>T	c.(697-699)TTC>TTT	p.F233F	ARID2_uc001ror.2_Silent_p.F233F	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	233					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATAGAGACTTCGTTAAGGTAA	0.284												
VDR	7421	broad.mit.edu	37	12	48272749	48272749	+	Splice_Site	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:48272749A>G	uc001rqm.2	-	4	428	c.146_splice	c.e4+1	p.R49_splice	VDR_uc001rql.2_Splice_Site_p.R99_splice|VDR_uc001rqn.2_Splice_Site_p.R49_splice|VDR_uc010slq.1_5'UTR	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor						decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AGGAGGGCTCACCTGAAGAAG	0.552												
COL2A1	1280	broad.mit.edu	37	12	48380862	48380862	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:48380862G>A	uc001rqu.2	-	21	1545	c.1364C>T	c.(1363-1365)ACG>ATG	p.T455M	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.T386M	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	455	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)	GGCTCTTACCGTCTGACCTTT	0.632												
MLL2	8085	broad.mit.edu	37	12	49445674	49445674	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:49445674G>A	uc001rta.3	-	10	1792	c.1792C>T	c.(1792-1794)CGT>TGT	p.R598C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	598	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|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			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGAACAGACGAGATGCCTCC	0.612			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
ACVR1B	91	broad.mit.edu	37	12	52380676	52380676	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:52380676A>G	uc001rzn.2	+	7	1253	c.1211A>G	c.(1210-1212)TAT>TGT	p.Y404C	ACVR1B_uc001rzl.2_Missense_Mutation_p.Y404C|ACVR1B_uc001rzm.2_Missense_Mutation_p.Y404C|ACVR1B_uc010snn.1_Missense_Mutation_p.Y445C	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	404	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCTGATATTTATGCCCTCGGG	0.418												
NR4A1	3164	broad.mit.edu	37	12	52452493	52452493	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:52452493C>T	uc001rzs.2	+	8	1876	c.1562C>T	c.(1561-1563)CCG>CTG	p.P521L	NR4A1_uc010sno.1_Missense_Mutation_p.P534L|NR4A1_uc001rzt.2_Missense_Mutation_p.P521L|NR4A1_uc009zmc.2_Missense_Mutation_p.R135C	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	521					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTGCAGGAGCCGCGGCGGGTG	0.672												
AMHR2	269	broad.mit.edu	37	12	53819659	53819659	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:53819659C>T	uc001scx.1	+	6	886	c.808C>T	c.(808-810)CGC>TGC	p.R270C	AMHR2_uc009zmy.1_Missense_Mutation_p.R270C	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	270	Cytoplasmic (Potential).|Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	GGGTCCTGGCCGCCTGCTCTC	0.483									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			
MAP3K12	7786	broad.mit.edu	37	12	53876800	53876800	+	Missense_Mutation	SNP	C	C	T	rs143743852		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:53876800C>T	uc001sdm.1	-	12	1786	c.1688G>A	c.(1687-1689)CGT>CAT	p.R563H	MAP3K12_uc001sdn.1_Missense_Mutation_p.R596H	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	563					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						CACAGCTGTACGAAGCCCAGG	0.706												
OR6C70	390327	broad.mit.edu	37	12	55863642	55863642	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:55863642C>T	uc010spn.1	-	1	281	c.281G>A	c.(280-282)GGT>GAT	p.G94D		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGATATGCAACCATTACAGGA	0.393												
RNF41	10193	broad.mit.edu	37	12	56604256	56604256	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:56604256C>T	uc001skf.1	-	4	556	c.187G>A	c.(187-189)GCC>ACC	p.A63T	RNF41_uc001ske.1_5'UTR|RNF41_uc001skg.1_Missense_Mutation_p.A63T|RNF41_uc010sqg.1_Intron|RNF41_uc010sqh.1_5'UTR|RNF41_uc001skh.2_Missense_Mutation_p.A76T	NM_005785	NP_005776	Q9H4P4	RNF41_HUMAN	ring finger protein 41 isoform 1	63					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1						CGCAGATGGGCGACCGTCACA	0.552												
STAC3	246329	broad.mit.edu	37	12	57637988	57637988	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:57637988G>A	uc001snp.2	-	11	1074	c.879C>T	c.(877-879)GTC>GTT	p.V293V	STAC3_uc009zpl.2_Missense_Mutation_p.R11W|STAC3_uc001snq.2_Silent_p.V254V|STAC3_uc010srm.1_Silent_p.V107V	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	293	SH3 1.				intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						GGAAAAATCCGACCTTCTCCC	0.557											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GLI1	2735	broad.mit.edu	37	12	57865760	57865760	+	Silent	SNP	G	G	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:57865760G>C	uc001snx.2	+	12	3315	c.3237G>C	c.(3235-3237)GGG>GGC	p.G1079G	GLI1_uc009zpq.2_Silent_p.G951G	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	1079					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			CTCCCTCTGGGCCCCCCAACA	0.557												
FAM119B	25895	broad.mit.edu	37	12	58174093	58174093	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:58174093C>T	uc001sqg.2	+	3	470	c.345C>T	c.(343-345)AAC>AAT	p.N115N	FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	115						integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCCAGGGCAACGTCCAGGCCA	0.582												
KCNMB4	27345	broad.mit.edu	37	12	70760700	70760700	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:70760700C>T	uc001svx.2	+	1	639	c.186C>T	c.(184-186)ATC>ATT	p.I62I		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	calcium-activated potassium channel beta 4	62	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding				0	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TGCAGCAGATCGGCGAGGTGT	0.617												
PTPRB	5787	broad.mit.edu	37	12	70960486	70960486	+	Splice_Site	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:70960486T>C	uc001swb.3	-	13	3011	c.2981_splice	c.e13-1	p.V994_splice	PTPRB_uc010sto.1_Intron|PTPRB_uc010stp.1_Splice_Site_p.V904_splice|PTPRB_uc001swc.3_Splice_Site_p.V1212_splice|PTPRB_uc001swa.3_Splice_Site_p.V1124_splice|PTPRB_uc001swd.3_Splice_Site_p.V1211_splice|PTPRB_uc009zrr.1_Splice_Site_p.V1091_splice	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGCTGGAACTGCAGAGAGAC	0.398												
CEP290	80184	broad.mit.edu	37	12	88480176	88480176	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:88480176C>T	uc001tar.2	-	33	4638	c.4294G>A	c.(4294-4296)GCA>ACA	p.A1432T	CEP290_uc001taq.2_Missense_Mutation_p.A492T	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1432	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						ACCTTTTGTGCCGCATTTAGT	0.358												
EEA1	8411	broad.mit.edu	37	12	93170683	93170683	+	Silent	SNP	G	G	A	rs142495165		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:93170683G>A	uc001tck.2	-	28	4315	c.4050C>T	c.(4048-4050)GCC>GCT	p.A1350A		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	1350					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						CATTGTCTTCGGCCCACTTTC	0.328												
STAB2	55576	broad.mit.edu	37	12	104048390	104048390	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:104048390G>T	uc001tjw.2	+	13	1651	c.1465G>T	c.(1465-1467)GGG>TGG	p.G489W		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	489	Extracellular (Potential).|FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						AATTATACAAGGGGACATCAT	0.358												
EID3	493861	broad.mit.edu	37	12	104698248	104698248	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:104698248G>A	uc001tkw.2	+	1	700	c.536G>A	c.(535-537)CGT>CAT	p.R179H	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						AAGCTAGAACGTTCTGCACCA	0.423												
SSH1	54434	broad.mit.edu	37	12	109201572	109201572	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:109201572C>T	uc001tnm.2	-	8	655	c.568G>A	c.(568-570)GAA>AAA	p.E190K	SSH1_uc001tnl.2_5'Flank|SSH1_uc010sxg.1_Missense_Mutation_p.E201K|SSH1_uc001tnn.3_Missense_Mutation_p.E190K|SSH1_uc001tno.1_Missense_Mutation_p.E94K	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	190					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						CGGGCCACTTCGCAGGCCTTG	0.592												
DAO	1610	broad.mit.edu	37	12	109293174	109293174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:109293174C>T	uc001tnr.3	+	10	988	c.835C>T	c.(835-837)CGA>TGA	p.R279*	DAO_uc001tnq.3_Nonsense_Mutation_p.R213*|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	279				R -> A (in Ref. 1; CAA31614).	glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						TATTGGTGAACGAACTGGCTT	0.458												
C12orf51	283450	broad.mit.edu	37	12	112673511	112673511	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:112673511G>T	uc009zwc.2	-	29	4274	c.4256C>A	c.(4255-4257)CCG>CAG	p.P1419Q		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTTTGGAGACGGGCGTTGGTC	0.562												
RPH3A	22895	broad.mit.edu	37	12	113321126	113321126	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:113321126G>A	uc010syl.1	+	16	1717	c.1355G>A	c.(1354-1356)CGG>CAG	p.R452Q	RPH3A_uc001ttz.2_Missense_Mutation_p.R452Q|RPH3A_uc001tty.2_Missense_Mutation_p.R448Q|RPH3A_uc009zwe.1_Missense_Mutation_p.R448Q|RPH3A_uc010sym.1_Missense_Mutation_p.R403Q|RPH3A_uc001tua.2_Missense_Mutation_p.R212Q	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	452	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.R448Q(1)		ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AAAACTCTGCGGAATACCCGG	0.562												
OAS3	4940	broad.mit.edu	37	12	113405771	113405771	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:113405771C>A	uc001tug.2	+	14	2983	c.2896C>A	c.(2896-2898)CTA>ATA	p.L966I		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	966	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						GAGAGGCTCCCTACCCCCACA	0.547												
WSB2	55884	broad.mit.edu	37	12	118480690	118480690	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:118480690G>A	uc001twr.2	-	4	613	c.515C>T	c.(514-516)GCG>GTG	p.A172V	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Missense_Mutation_p.A172V	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	172	WD 2.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCCCGTGACGCGGAGACCAA	0.498												
CIT	11113	broad.mit.edu	37	12	120150099	120150099	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:120150099C>T	uc001txi.1	-	36	4665	c.4612G>A	c.(4612-4614)GGG>AGG	p.G1538R	CIT_uc001txh.1_Missense_Mutation_p.G1057R|CIT_uc001txj.1_Missense_Mutation_p.G1580R	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1538	PH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGGGTTCTCCCGGGCCAGCAG	0.537												
RNF10	9921	broad.mit.edu	37	12	121013442	121013442	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:121013442G>T	uc001typ.3	+	15	2634	c.2151G>T	c.(2149-2151)AGG>AGT	p.R717S	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.R628S	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	717					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATGCTGAGGGTTGGAAAAG	0.478												
RNF34	80196	broad.mit.edu	37	12	121868063	121868063	+	Silent	SNP	G	G	A	rs111862260	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:121868063G>A	uc001uam.1	+	7	1404	c.1290G>A	c.(1288-1290)CCG>CCA	p.P430P	KDM2B_uc001uaq.2_Intron|KDM2B_uc010szy.1_3'UTR|KDM2B_uc001uar.2_Intron|KDM2B_uc001uas.2_Intron|KDM2B_uc001uat.2_3'UTR|KDM2B_uc001uau.2_3'UTR|KDM2B_uc001uao.2_Intron|KDM2B_uc010szx.1_3'UTR|KDM2B_uc001uap.2_Intron	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	Error:Variant_position_missing_in_Q969K3_after_alignment					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		CCCAGAGCCCGCCCCGTATTT	0.443												
CLIP1	6249	broad.mit.edu	37	12	122757436	122757436	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:122757436C>T	uc001ucg.1	-	25	4409	c.4303G>A	c.(4303-4305)GAC>AAC	p.D1435N	CLIP1_uc001uch.1_Missense_Mutation_p.D1424N|CLIP1_uc001uci.1_Missense_Mutation_p.D1389N|CLIP1_uc001ucf.1_Missense_Mutation_p.D94N	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1435					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AAGGTTTCGTCGTCATTGCAG	0.542												
DNAH10	196385	broad.mit.edu	37	12	124403311	124403311	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:124403311C>G	uc001uft.3	+	64	10992	c.10967C>G	c.(10966-10968)GCC>GGC	p.A3656G		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3656					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)		AGGAGGGGGGCCATCCTGTTC	0.562												
EP400	57634	broad.mit.edu	37	12	132547132	132547132	+	Silent	SNP	G	G	A	rs149369604	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:132547132G>A	uc001ujn.2	+	46	8255	c.8220G>A	c.(8218-8220)CAG>CAA	p.Q2740Q	EP400_uc001ujl.2_Silent_p.Q2739Q|EP400_uc001ujm.2_Silent_p.Q2659Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2776	Poly-Gln.|Interaction with ZNF42 (By similarity).				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)		agcagcagcagcagcaacagc	0.313												
GOLGA3	2802	broad.mit.edu	37	12	133384552	133384552	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:133384552G>A	uc001ukz.1	-	5	1662	c.1103C>T	c.(1102-1104)GCA>GTA	p.A368V	GOLGA3_uc001ula.1_Missense_Mutation_p.A368V|GOLGA3_uc001ulb.2_Missense_Mutation_p.A368V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	368					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCAGCGGCTGCGGCCTGGAG	0.622												
SACS	26278	broad.mit.edu	37	13	23910913	23910913	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:23910913C>T	uc001uon.2	-	10	7691	c.7102G>A	c.(7102-7104)GCA>ACA	p.A2368T	SACS_uc001uoo.2_Missense_Mutation_p.A2221T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2368					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTATGGTGCCGCCTCAAAA	0.353												
SACS	26278	broad.mit.edu	37	13	23911667	23911667	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:23911667G>A	uc001uon.2	-	10	6937	c.6348C>T	c.(6346-6348)CCC>CCT	p.P2116P	SACS_uc001uoo.2_Silent_p.P1969P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2116					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTCGTCCTTCGGGGTGGATCA	0.393												
RNF17	56163	broad.mit.edu	37	13	25374553	25374553	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:25374553G>A	uc001upr.2	+	13	1680	c.1639G>A	c.(1639-1641)GCA>ACA	p.A547T	RNF17_uc010tdd.1_Missense_Mutation_p.A406T|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.A547T|RNF17_uc001ups.2_Missense_Mutation_p.A486T	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	547					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		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)		GCAACATATTGCACTAAATGA	0.353												
FAM48A	55578	broad.mit.edu	37	13	37598274	37598274	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:37598274G>A	uc001uwg.2	-	19	1737	c.1489C>T	c.(1489-1491)CCT>TCT	p.P497S	FAM48A_uc010abt.2_Missense_Mutation_p.P498S|FAM48A_uc001uwh.2_Missense_Mutation_p.P498S|FAM48A_uc001uwi.2_Missense_Mutation_p.P497S|FAM48A_uc001uwj.2_Missense_Mutation_p.P498S|FAM48A_uc001uwk.2_Missense_Mutation_p.P497S|FAM48A_uc010tes.1_Missense_Mutation_p.P461S|FAM48A_uc001uwl.1_Missense_Mutation_p.P497S|FAM48A_uc001uwd.2_5'Flank|FAM48A_uc001uwe.2_5'UTR|FAM48A_uc001uwf.2_Missense_Mutation_p.P75S	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	497					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		TTAGAAGAAGGAGGAGGAGTT	0.393												
COG6	57511	broad.mit.edu	37	13	40229920	40229920	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:40229920C>T	uc001uxh.2	+	1	157	c.57C>T	c.(55-57)GGC>GGT	p.G19G	COG6_uc001uxi.2_5'UTR|COG6_uc010acb.2_Silent_p.G19G	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	19					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CTGCCAACGGCCTCAACAATG	0.677												
C13orf18	80183	broad.mit.edu	37	13	46933764	46933764	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:46933764G>A	uc010acl.2	-	9	1727	c.1122C>T	c.(1120-1122)GTC>GTT	p.V374V	C13orf18_uc001vbf.3_Silent_p.V307V|C13orf18_uc001vbg.3_Silent_p.V102V|C13orf18_uc010tfz.1_Silent_p.V217V|C13orf18_uc010acm.2_Silent_p.V239V|C13orf18_uc010acn.2_Silent_p.V159V|C13orf18_uc001vbe.3_Silent_p.V374V|C13orf18_uc001vbh.3_Silent_p.V374V|C13orf18_uc001vbi.3_Silent_p.V217V|C13orf18_uc010aco.1_Silent_p.V374V	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	374											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)		CTTCATTTACGACCTGCATAA	0.313												
PCDH17	27253	broad.mit.edu	37	13	58207580	58207580	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:58207580C>T	uc001vhq.1	+	1	1792	c.900C>T	c.(898-900)ACC>ACT	p.T300T	PCDH17_uc010aec.1_Silent_p.T300T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	300	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACCCCAAGACCGGCCTAATCC	0.597												
PCDH17	27253	broad.mit.edu	37	13	58208476	58208476	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:58208476G>A	uc001vhq.1	+	1	2688	c.1796G>A	c.(1795-1797)CGC>CAC	p.R599H	PCDH17_uc010aec.1_Missense_Mutation_p.R599H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	599	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGGTGCCGCGCAACGCTGGC	0.647												
POU4F1	5457	broad.mit.edu	37	13	79175961	79175961	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:79175961G>A	uc001vkv.2	-	2	1083	c.849C>T	c.(847-849)GGC>GGT	p.G283G	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	283	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CCTGCGTCACGCCCAGCTTGA	0.701												
DCT	1638	broad.mit.edu	37	13	95131418	95131418	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:95131418G>A	uc001vlv.3	-	1	519	c.92C>T	c.(91-93)ACG>ATG	p.T31M	DCT_uc010afh.2_Missense_Mutation_p.T31M	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	31	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GCTGTCCACCGTCATGCAGAC	0.607												
DOCK9	23348	broad.mit.edu	37	13	99505676	99505676	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:99505676T>G	uc001vnt.2	-	35	3990	c.3935A>C	c.(3934-3936)AAG>ACG	p.K1312T	DOCK9_uc001vnw.2_Missense_Mutation_p.K1311T|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.K1312T|DOCK9_uc010tip.1_5'UTR|DOCK9_uc010tiq.1_Missense_Mutation_p.K290T	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1312					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGACATGCTCTTTAAGATGTA	0.378												
ERCC5	2073	broad.mit.edu	37	13	103459927	103459927	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:103459927A>T	uc001vpu.1	+	1	432	c.310A>T	c.(310-312)AAT>TAT	p.N104Y	BIVM_uc001vps.2_Missense_Mutation_p.N104Y|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.N104Y	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	141					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)					ATCTGCTGGAAATAATTCATC	0.423			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
ERCC5	2073	broad.mit.edu	37	13	103514378	103514378	+	Splice_Site	SNP	A	A	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:103514378A>C	uc001vpw.2	+	8	1324	c.881_splice	c.e8-2	p.G294_splice	ERCC5_uc001vpu.1_Splice_Site_p.G748_splice|ERCC5_uc010tjb.1_Splice_Site_p.G294_splice|ERCC5_uc010tjc.1_Splice_Site|ERCC5_uc010tjd.1_Splice_Site_p.G126_splice	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein						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)					ATTCTTCTTAAGGTATTCAAG	0.383			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
FAM155A	728215	broad.mit.edu	37	13	108518130	108518130	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:108518130T>G	uc001vql.2	-	1	1331	c.815A>C	c.(814-816)GAC>GCC	p.D272A		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	272						integral to membrane	binding			skin(1)	1						AGCATGGTGGTCATAGTCCTG	0.507												
MYO16	23026	broad.mit.edu	37	13	109792754	109792754	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:109792754C>T	uc001vqt.1	+	32	4254	c.4128C>T	c.(4126-4128)CCC>CCT	p.P1376P	MYO16_uc010agk.1_Silent_p.P1398P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1376					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			acgcgaggcccgcgggcgccc	0.542												
IRS2	8660	broad.mit.edu	37	13	110434725	110434725	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:110434725C>T	uc001vqv.2	-	1	4190	c.3676G>A	c.(3676-3678)GGG>AGG	p.G1226R		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1226					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACCAAGCCCCCGGGCTGACCC	0.706												
ATP11A	23250	broad.mit.edu	37	13	113505388	113505388	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:113505388T>C	uc001vsi.3	+	18	1935	c.1847T>C	c.(1846-1848)CTG>CCG	p.L616P	ATP11A_uc001vsj.3_Missense_Mutation_p.L616P|ATP11A_uc001vsm.1_Missense_Mutation_p.L492P|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	616	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TATAAAAGGCTGATCCAAGAA	0.448												
TFDP1	7027	broad.mit.edu	37	13	114286057	114286057	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:114286057C>T	uc001vtw.2	+	5	518	c.306C>T	c.(304-306)GCC>GCT	p.A102A	TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Silent_p.A102A|TFDP1_uc001vtx.2_5'Flank|TFDP1_uc010agx.2_Silent_p.A102A	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	102					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CTTGGTCTGCCGGGTGAGCAC	0.607										TSP Lung(29;0.18)		
OR4Q3	441669	broad.mit.edu	37	14	20216140	20216140	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:20216140T>C	uc010tkt.1	+	1	554	c.554T>C	c.(553-555)GTC>GCC	p.V185A		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCCCACAAGTCATCAAGCTG	0.493												
FLJ10357	55701	broad.mit.edu	37	14	21549846	21549846	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:21549846G>A	uc001vzp.2	+	14	2848	c.2819G>A	c.(2818-2820)CGC>CAC	p.R940H	FLJ10357_uc001vzo.1_Missense_Mutation_p.R19H|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R226H	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	940	Potential.				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)		GAATGGGGCCGCTGCCAGGCC	0.731												
ACIN1	22985	broad.mit.edu	37	14	23530627	23530627	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:23530627G>A	uc001wit.3	-	17	3806	c.3478C>T	c.(3478-3480)CGA>TGA	p.R1160*	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Nonsense_Mutation_p.R402*|ACIN1_uc001wiq.3_Nonsense_Mutation_p.R402*|ACIN1_uc001wir.3_Nonsense_Mutation_p.R433*|ACIN1_uc001wis.3_Nonsense_Mutation_p.R841*|ACIN1_uc010akg.2_Nonsense_Mutation_p.R1147*	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1160	Arg/Asp/Glu/Lys-rich.		R -> Q (in a colorectal cancer sample; somatic mutation).		apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.R1160Q(1)		ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CGCTCTGATCGAGTCCGCTCC	0.647												
ACIN1	22985	broad.mit.edu	37	14	23530687	23530687	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:23530687G>A	uc001wit.3	-	17	3746	c.3418C>T	c.(3418-3420)CGG>TGG	p.R1140W	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R382W|ACIN1_uc001wiq.3_Missense_Mutation_p.R382W|ACIN1_uc001wir.3_Missense_Mutation_p.R413W|ACIN1_uc001wis.3_Missense_Mutation_p.R821W|ACIN1_uc010akg.2_Missense_Mutation_p.R1127W	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1140	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CGCACTGCCCGTTCCTGCTCC	0.662												
SLC22A17	51310	broad.mit.edu	37	14	23817841	23817841	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:23817841G>A	uc001wjl.2	-	4	622	c.566C>T	c.(565-567)GCC>GTC	p.A189V	SLC22A17_uc010akk.2_Intron|SLC22A17_uc001wjn.2_Intron|SLC22A17_uc001wjm.2_Missense_Mutation_p.A189V|SLC22A17_uc010akl.1_3'UTR	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	189	Helical; (Potential).				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCCTGCCAGGGCCACCCGAAG	0.502												
EFS	10278	broad.mit.edu	37	14	23826481	23826481	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:23826481C>A	uc001wjo.2	-	6	2248	c.1640G>T	c.(1639-1641)GGG>GTG	p.G547V	EFS_uc001wjp.2_Missense_Mutation_p.G454V|EFS_uc010tnm.1_Missense_Mutation_p.G378V	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	547					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CAGGGCCTGCCCTGCCAGTTC	0.612												
CMTM5	116173	broad.mit.edu	37	14	23847614	23847614	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:23847614C>T	uc010akm.2	+	2	627	c.183C>T	c.(181-183)GCC>GCT	p.A61A	CMTM5_uc001wjs.2_Silent_p.A61A|CMTM5_uc001wjt.2_Silent_p.A61A|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	chemokine-like factor superfamily 5 isoform a	61	Helical; (Potential).|MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCTACATGGCCGCGGCGCTAC	0.567												
AP1G2	8906	broad.mit.edu	37	14	24032709	24032709	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:24032709C>T	uc001wkl.2	-	14	1627	c.1290G>A	c.(1288-1290)GCG>GCA	p.A430A	AP1G2_uc001wkj.2_Silent_p.A49A|AP1G2_uc001wkk.3_Silent_p.A358A|AP1G2_uc001wkn.2_Silent_p.A49A|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA|AP1G2_uc010tnp.1_Silent_p.A430A	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	430					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CATGGGTGCCCGCCTGGAAGG	0.617											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DHRS4L1	728635	broad.mit.edu	37	14	24518539	24518539	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:24518539C>T	uc010alc.2	+	9	721	c.721C>T	c.(721-723)CGG>TGG	p.R241W	DHRS4L1_uc010tnu.1_RNA|LRRC16B_uc001wlj.2_5'Flank	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	241							binding|oxidoreductase activity				0						AGAAACCCTGCGGATAAGAAG	0.423												
IPO4	79711	broad.mit.edu	37	14	24652846	24652846	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:24652846A>G	uc001wmv.1	-	20	2144	c.2013T>C	c.(2011-2013)GAT>GAC	p.D671D	IPO4_uc001wmt.1_Silent_p.D149D|IPO4_uc001wmu.2_Silent_p.D333D|IPO4_uc001wmx.1_Silent_p.D535D|IPO4_uc001wmy.1_Silent_p.D535D|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Silent_p.D671D	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	671					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		CTTCCTTCTCATCGAAGAAGG	0.567												
INSM2	84684	broad.mit.edu	37	14	36004942	36004942	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:36004942G>A	uc001wth.1	+	1	1695	c.1484G>A	c.(1483-1485)CGC>CAC	p.R495H		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CATGCTGTCCGCGAGGAGCTG	0.647												
SSTR1	6751	broad.mit.edu	37	14	38678848	38678848	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:38678848G>A	uc001wul.1	+	3	871	c.254G>A	c.(253-255)CGC>CAC	p.R85H	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	85	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTGATCCTGCGCTATGCCAAG	0.562												
SSTR1	6751	broad.mit.edu	37	14	38679088	38679088	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:38679088C>T	uc001wul.1	+	3	1111	c.494C>T	c.(493-495)GCG>GTG	p.A165V	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	165	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CCCATCAAGGCGGCCCGCTAC	0.632												
SEC23A	10484	broad.mit.edu	37	14	39565189	39565189	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:39565189A>G	uc001wup.1	-	2	357	c.134T>C	c.(133-135)CTG>CCG	p.L45P	SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Missense_Mutation_p.L45P	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	45					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCTCTCTTTCAGTGGTGTAAA	0.433												
PYGL	5836	broad.mit.edu	37	14	51381427	51381427	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:51381427T>C	uc001wyu.2	-	12	1637	c.1510A>G	c.(1510-1512)ATA>GTA	p.I504V	PYGL_uc010tqq.1_Missense_Mutation_p.I470V|PYGL_uc001wyv.2_Missense_Mutation_p.I178V	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	504					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACCTCTGCTATGAGCTCTGCA	0.473												
PTGDR	5729	broad.mit.edu	37	14	52734813	52734813	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:52734813G>T	uc001wzq.2	+	1	383	c.281G>T	c.(280-282)CGG>CTG	p.R94L		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	94	Extracellular (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGGAGTCTGCGGGTGCTTGCG	0.602												
PTGER2	5732	broad.mit.edu	37	14	52781670	52781670	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:52781670A>G	uc001wzr.2	+	1	655	c.404A>G	c.(403-405)TAC>TGC	p.Y135C		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	135	Cytoplasmic (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CTGGAGCGCTACCTCTCGATC	0.657												
BMP4	652	broad.mit.edu	37	14	54418739	54418739	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:54418739G>A	uc001xal.3	-	2	389	c.202C>T	c.(202-204)CGC>TGC	p.R68C	BMP4_uc010aoh.2_Missense_Mutation_p.R68C|BMP4_uc001xao.3_Missense_Mutation_p.R68C|BMP4_uc001xan.3_Missense_Mutation_p.R68C	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	68					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						GGGCGGCGGCGCAGCCCAAAC	0.637												
ACTR10	55860	broad.mit.edu	37	14	58690342	58690342	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:58690342C>T	uc001xdf.2	+	9	740	c.637C>T	c.(637-639)CGT>TGT	p.R213C	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Missense_Mutation_p.R15C|ACTR10_uc001xdh.2_Missense_Mutation_p.R15C|ACTR10_uc010trp.1_RNA|ACTR10_uc010apc.2_Missense_Mutation_p.R3C	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	213						cytoplasm				central_nervous_system(1)	1						CCTTAAAGCGCGTACTTGCTT	0.338												
RTN1	6252	broad.mit.edu	37	14	60070603	60070603	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:60070603C>T	uc001xen.1	-	6	2358	c.2149G>A	c.(2149-2151)GCT>ACT	p.A717T	RTN1_uc001xem.1_Missense_Mutation_p.A297T|RTN1_uc001xek.1_Missense_Mutation_p.A149T|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.A134T	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	717	Helical; (Potential).|Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGAAGAGAGCGCCAACGTAG	0.488												
RTN1	6252	broad.mit.edu	37	14	60213015	60213015	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:60213015C>T	uc001xen.1	-	2	635	c.426G>A	c.(424-426)GAG>GAA	p.E142E		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	142					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTGTACCCAGCTCCTCAGGGC	0.483												
HIF1A	3091	broad.mit.edu	37	14	62187241	62187241	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:62187241G>A	uc001xfq.2	+	2	581	c.177G>A	c.(175-177)GTG>GTA	p.V59V	HIF1A_uc010tsc.1_Intron|HIF1A_uc001xfr.2_Silent_p.V59V|HIF1A_uc001xfs.2_Silent_p.V60V	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	59	Interaction with TSGA10 (By similarity).|Helix-loop-helix motif.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		AGGCCTCTGTGATGAGGCTTA	0.413												
SYNE2	23224	broad.mit.edu	37	14	64520260	64520260	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:64520260C>T	uc001xgm.2	+	48	9859	c.9629C>T	c.(9628-9630)ACT>ATT	p.T3210I	SYNE2_uc001xgl.2_Missense_Mutation_p.T3210I|SYNE2_uc010apw.1_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3210	Potential.|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)		AAAGCTGTGACTGCTATTGAG	0.358												
RBM25	58517	broad.mit.edu	37	14	73544119	73544119	+	Missense_Mutation	SNP	G	G	A	rs143840737	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:73544119G>A	uc001xno.2	+	4	407	c.199G>A	c.(199-201)GCA>ACA	p.A67T	RBM25_uc001xnn.3_Missense_Mutation_p.A67T|RBM25_uc010ttu.1_Missense_Mutation_p.A67T|RBM25_uc001xnp.2_5'UTR	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	67					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GCATTTGGGCGCAAGAAAGGA	0.378												
LTBP2	4053	broad.mit.edu	37	14	74970717	74970717	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:74970717C>T	uc001xqa.2	-	31	4881	c.4494G>A	c.(4492-4494)CCG>CCA	p.P1498P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1498	EGF-like 17; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACCGGCCGTTCGGGCAGAGAC	0.498												
KIAA0317	9870	broad.mit.edu	37	14	75151323	75151323	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:75151323G>A	uc001xqb.2	-	4	582	c.77C>T	c.(76-78)GCC>GTC	p.A26V	KIAA0317_uc010tut.1_Intron|KIAA0317_uc001xqc.2_Missense_Mutation_p.A26V|KIAA0317_uc001xqd.1_Intron	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	26					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TACACGTGCGGCAAGCTCAAA	0.517												
YLPM1	56252	broad.mit.edu	37	14	75277083	75277083	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:75277083C>T	uc001xqj.3	+	9	5312	c.5188C>T	c.(5188-5190)CGG>TGG	p.R1730W	YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.R213W	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1535	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGACTATGACCGGGATCGATT	0.408												
TMED10	10972	broad.mit.edu	37	14	75602475	75602475	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:75602475G>A	uc001xrm.1	-	4	593	c.526C>T	c.(526-528)CGT>TGT	p.R176C	TMED10_uc010ash.1_RNA|TMED10_uc010asg.1_RNA|TMED10_uc010tuz.1_Missense_Mutation_p.R51C	NM_006827	NP_006818	P49755	TMEDA_HUMAN	transmembrane emp24 domain-containing protein 10	176	Lumenal (Potential).|GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGGTATCACGCATCTCCTCT	0.438												
GALC	2581	broad.mit.edu	37	14	88450866	88450866	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:88450866A>G	uc001xvt.2	-	5	853	c.454T>C	c.(454-456)TCA>CCA	p.S152P	GALC_uc010tvx.1_Missense_Mutation_p.S126P|GALC_uc010tvy.1_Missense_Mutation_p.S129P|GALC_uc010tvz.1_Missense_Mutation_p.S96P|GALC_uc001xvu.1_Missense_Mutation_p.S152P	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	152					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						CCAGGGAATGACCATGGCAAC	0.468												
CATSPERB	79820	broad.mit.edu	37	14	92047403	92047403	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:92047403C>T	uc001xzs.1	-	27	3321	c.3181G>A	c.(3181-3183)GCC>ACC	p.A1061T	CATSPERB_uc010aub.1_Missense_Mutation_p.A583T	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	1061	Helical; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTTGCCACGGCAATAAGCGTG	0.418												
SERPINA3	12	broad.mit.edu	37	14	95058423	95058423	+	Translation_Start_Site	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:95058423C>T	uc001ydo.3	+	1	29	c.-859C>T	c.(-861--857)GACGA>GATGA		SERPINA5_uc001ydm.2_Silent_p.D356D	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3						acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGGAGGTGGACGAGTCGGGAA	0.572												
SERPINA3	12	broad.mit.edu	37	14	95080920	95080920	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:95080920G>A	uc001ydp.2	+	2	221	c.142G>A	c.(142-144)GGA>AGA	p.G48R	SERPINA3_uc001ydo.3_Missense_Mutation_p.G73R|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.G48R|SERPINA3_uc001yds.2_Missense_Mutation_p.G48R|SERPINA3_uc010avg.2_Missense_Mutation_p.G48R	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	48					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CGTGGACCTCGGATTAGCCTC	0.567												
HSP90AA1	3320	broad.mit.edu	37	14	102550309	102550309	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:102550309C>A	uc001yku.3	-	7	1349	c.1159G>T	c.(1159-1161)GGG>TGG	p.G387W	HSP90AA1_uc001ykv.3_Missense_Mutation_p.G509W|HSP90AA1_uc001ykw.1_Missense_Mutation_p.G208W|HSP90AA1_uc001ykx.1_Missense_Mutation_p.G376W	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	387					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	TCTACCACCCCTCTAATGAAG	0.368												
TMEM121	80757	broad.mit.edu	37	14	105995483	105995483	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:105995483G>A	uc001yrp.1	+	2	463	c.312G>A	c.(310-312)GCG>GCA	p.A104A	ADAM6_uc010tyt.1_Intron|uc001yrr.2_5'Flank	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	hole protein	104						integral to membrane					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		ggcgcggcgcggcgGACCCCG	0.537												
C15orf2	23742	broad.mit.edu	37	15	24923884	24923884	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:24923884C>T	uc001ywo.2	+	1	3344	c.2870C>T	c.(2869-2871)ACA>ATA	p.T957I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	957					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCATTGGGCACACCTGTTAAT	0.488												
ATP10A	57194	broad.mit.edu	37	15	25947181	25947181	+	Missense_Mutation	SNP	G	G	A	rs142704035		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:25947181G>A	uc010ayu.2	-	13	2748	c.2642C>T	c.(2641-2643)GCG>GTG	p.A881V		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	881	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)		CTGCAGGCCCGCTTGACGCAA	0.532												
OCA2	4948	broad.mit.edu	37	15	28090178	28090178	+	Missense_Mutation	SNP	C	C	T	rs142988897	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:28090178C>T	uc001zbh.3	-	23	2469	c.2359G>A	c.(2359-2361)GCG>ACG	p.A787T	OCA2_uc010ayv.2_Missense_Mutation_p.A763T	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	787	Extracellular (Potential).		A -> V (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTTGCCGACGCGCCAATCAGT	0.388									Oculocutaneous_Albinism			
HERC2	8924	broad.mit.edu	37	15	28437288	28437288	+	Missense_Mutation	SNP	G	G	A	rs61755662	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:28437288G>A	uc001zbj.2	-	53	8376	c.8270C>T	c.(8269-8271)GCG>GTG	p.A2757V	HERC2_uc001zbk.1_Missense_Mutation_p.A292V	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2757					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACAAAATACCGCAGACTGACC	0.473											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HERC2	8924	broad.mit.edu	37	15	28493767	28493767	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:28493767G>A	uc001zbj.2	-	21	3272	c.3166C>T	c.(3166-3168)CGT>TGT	p.R1056C		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1056					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTTGAAAACGCAGTAACAAA	0.388												
APBA2	321	broad.mit.edu	37	15	29397613	29397613	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:29397613C>T	uc001zck.2	+	10	1763	c.1556C>T	c.(1555-1557)GCC>GTC	p.A519V	APBA2_uc010azj.2_Missense_Mutation_p.A507V|APBA2_uc010uat.1_Missense_Mutation_p.A507V|APBA2_uc001zcl.2_Missense_Mutation_p.A507V	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	519	PID.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATCGGCCAGGCCTTCAGCGTG	0.627												
TJP1	7082	broad.mit.edu	37	15	30001145	30001145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:30001145G>A	uc001zcr.2	-	25	4943	c.4468C>T	c.(4468-4470)CGA>TGA	p.R1490*	TJP1_uc010azl.2_Nonsense_Mutation_p.R1478*|TJP1_uc001zcq.2_Nonsense_Mutation_p.R1414*|TJP1_uc001zcs.2_Nonsense_Mutation_p.R1410*	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1490					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTATCTTCTCGGTTTGGTGGT	0.443												
TJP1	7082	broad.mit.edu	37	15	30010706	30010706	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:30010706A>C	uc001zcr.2	-	21	4115	c.3640T>G	c.(3640-3642)TTT>GTT	p.F1214V	TJP1_uc010azl.2_Missense_Mutation_p.F1202V|TJP1_uc001zcq.2_Missense_Mutation_p.F1138V|TJP1_uc001zcs.2_Missense_Mutation_p.F1134V	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1214					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGAGGCTCAAAATGACCTGCT	0.522												
CHRFAM7A	89832	broad.mit.edu	37	15	30659642	30659642	+	Silent	SNP	G	G	A	rs149651405		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:30659642G>A	uc001zdt.1	-	9	1265	c.699C>T	c.(697-699)GAC>GAT	p.D233D	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.D142D|CHRFAM7A_uc010azn.2_Silent_p.D142D	NM_139320	NP_647536	Q494W8	CRFM7_HUMAN	CHRNA7-FAM7A fusion isoform 1	233						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			skin(1)	1		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCTTGCCCCCGTCGGGGTCGT	0.587												
MTMR10	54893	broad.mit.edu	37	15	31233850	31233850	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:31233850G>A	uc001zfh.1	-	16	2255	c.2157C>T	c.(2155-2157)AAC>AAT	p.N719N	MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Silent_p.N133N|MTMR10_uc001zfg.1_Silent_p.N300N|MTMR10_uc010azx.1_Silent_p.N471N|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	719							phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GGCCGCTGGCGTTGAAGTACA	0.587												
THBS1	7057	broad.mit.edu	37	15	39885703	39885703	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:39885703G>A	uc001zkh.2	+	19	3280	c.3101G>A	c.(3100-3102)CGC>CAC	p.R1034H	THBS1_uc010bbi.2_Missense_Mutation_p.R506H	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	1034	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCCAGCAGCCGCTTTTATGTT	0.502												
FSIP1	161835	broad.mit.edu	37	15	39910098	39910098	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:39910098C>T	uc001zki.2	-	11	1755	c.1537G>A	c.(1537-1539)GTT>ATT	p.V513I		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	513										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CTAATAATAACGTCCTTGGAA	0.398												
EHD4	30844	broad.mit.edu	37	15	42193061	42193061	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:42193061C>T	uc001zot.2	-	6	1471	c.1408G>A	c.(1408-1410)GCC>ACC	p.A470T		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	470	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCCTTCTTGGCGTTGACACCT	0.587												
TTBK2	146057	broad.mit.edu	37	15	43067849	43067849	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:43067849G>A	uc001zqo.2	-	13	1921	c.1482C>T	c.(1480-1482)TGC>TGT	p.C494C	TTBK2_uc010bcy.2_Silent_p.C425C	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	494					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CAGCAGGAACGCAAGGCTTAT	0.483												
LCMT2	9836	broad.mit.edu	37	15	43622547	43622547	+	Silent	SNP	G	G	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:43622547G>C	uc001zrg.2	-	1	345	c.141C>G	c.(139-141)CGC>CGG	p.R47R	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	47					tRNA processing		methyltransferase activity|protein binding				0		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;8.1e-07)	L-Leucine(DB00149)	GCGGTGCGCGGCGCGCCGCGC	0.706												
MAP1A	4130	broad.mit.edu	37	15	43815948	43815948	+	Silent	SNP	G	G	A	rs142195148	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:43815948G>A	uc001zrt.2	+	4	2744	c.2277G>A	c.(2275-2277)CCG>CCA	p.P759P		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	759						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATGATGAGCCGGAGGAGCGCC	0.557												
WDR76	79968	broad.mit.edu	37	15	44127282	44127282	+	Silent	SNP	C	C	T	rs146443201	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:44127282C>T	uc001zti.1	+	3	509	c.486C>T	c.(484-486)TAC>TAT	p.Y162Y		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	162											0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TGTCACCCTACGAAAGGAAGA	0.353												
COPS2	9318	broad.mit.edu	37	15	49431799	49431799	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:49431799G>A	uc001zxf.2	-	4	377	c.298C>T	c.(298-300)CGG>TGG	p.R100W	COPS2_uc001zxh.2_Missense_Mutation_p.R100W|COPS2_uc010ufa.1_Missense_Mutation_p.R36W	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	100					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTGCACTCCGAATATAGGTC	0.313												
TNFAIP8L3	388121	broad.mit.edu	37	15	51350305	51350305	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:51350305C>T	uc001zyy.2	-	3	752	c.652G>A	c.(652-654)GAT>AAT	p.D218N		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	218											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ACGTTCCTATCGAAGGTGTAT	0.547												
GLDN	342035	broad.mit.edu	37	15	51696776	51696776	+	Missense_Mutation	SNP	T	T	C	rs145926803		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:51696776T>C	uc002aba.2	+	10	1650	c.1481T>C	c.(1480-1482)TTT>TCT	p.F494S	GLDN_uc002abb.2_Missense_Mutation_p.F370S	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	494	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGGGTCACATTTGCCTTTGAT	0.438												
ONECUT1	3175	broad.mit.edu	37	15	53081088	53081088	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:53081088G>A	uc002aci.1	-	1	1122	c.994C>T	c.(994-996)CGC>TGC	p.R332C		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	332	CUT.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		TTGGGGTTGCGCAGCAGGTCC	0.647												
LIPC	3990	broad.mit.edu	37	15	58724239	58724239	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:58724239C>T	uc010bga.1	+	3	616	c.8C>T	c.(7-9)ACA>ATA	p.T3I	LIPC_uc010bfz.1_Missense_Mutation_p.T3I|LIPC_uc002afa.1_Missense_Mutation_p.T3I|LIPC_uc010bgb.1_5'UTR|LIPC_uc010ugy.1_Missense_Mutation_p.T3I	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	3					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GAAATGGACACAAGTCCCCTG	0.453												
DENND4A	10260	broad.mit.edu	37	15	65954190	65954190	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:65954190T>C	uc002aph.2	-	32	5969	c.5591A>G	c.(5590-5592)TAA>TGA	p.*1864*	DENND4A_uc002api.2_Silent_p.*1907*	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1864					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AAATACATCTTAAAGATAAGG	0.323												
RPL4	6124	broad.mit.edu	37	15	66793741	66793741	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:66793741A>G	uc002apv.2	-	6	704	c.648T>C	c.(646-648)GGT>GGC	p.G216G	RPL4_uc010bhr.2_Silent_p.G122G|RPL4_uc002apw.2_Silent_p.G122G|RPL4_uc002apx.2_Silent_p.G122G|RPL4_uc010ujq.1_Silent_p.G216G|SNORD18C_uc010bhs.1_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	216					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						CCTTGATGATACCATTATCCT	0.438												
IQCH	64799	broad.mit.edu	37	15	67664607	67664607	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:67664607C>T	uc002aqo.1	+	9	959	c.912C>T	c.(910-912)CAC>CAT	p.H304H	IQCH_uc010ujv.1_Silent_p.H123H|IQCH_uc002aqn.1_Silent_p.H131H|IQCH_uc002aqq.1_Silent_p.H52H|IQCH_uc002aqp.1_Silent_p.H56H	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	304										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		TCTTGGAACACGTCGAGAAGT	0.393												
ITGA11	22801	broad.mit.edu	37	15	68612614	68612614	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:68612614G>A	uc002ari.2	-	20	2612	c.2525C>T	c.(2524-2526)GCC>GTC	p.A842V	ITGA11_uc010bib.2_Missense_Mutation_p.A842V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	842	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CTCCAGTGTGGCCTCCACCGC	0.572												
KIF23	9493	broad.mit.edu	37	15	69709798	69709798	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:69709798A>G	uc002asb.2	+	3	275	c.158A>G	c.(157-159)CAG>CGG	p.Q53R	KIF23_uc002asc.2_Missense_Mutation_p.Q53R|KIF23_uc010bii.2_5'UTR|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	53	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						ACAACTGTTCAGCTTCATACT	0.413												
NEO1	4756	broad.mit.edu	37	15	73585744	73585744	+	Silent	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:73585744C>A	uc002avm.3	+	26	3898	c.3756C>A	c.(3754-3756)GCC>GCA	p.A1252A	NEO1_uc010ukx.1_Silent_p.A1241A|NEO1_uc010uky.1_Intron|NEO1_uc010ukz.1_Silent_p.A665A|NEO1_uc002avn.3_Silent_p.A890A	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1252	Cytoplasmic (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						TGATTAGTGCCCATCCCATCC	0.507												
HCN4	10021	broad.mit.edu	37	15	73615907	73615907	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:73615907C>T	uc002avp.2	-	8	3521	c.2527G>A	c.(2527-2529)GCC>ACC	p.A843T		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	843	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GGGCTGCTGGCGGGCGAGGCG	0.672												
STRA6	64220	broad.mit.edu	37	15	74488486	74488486	+	Missense_Mutation	SNP	G	G	T	rs118203961		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:74488486G>T	uc002axk.2	-	5	451	c.269C>A	c.(268-270)CCT>CAT	p.P90H	STRA6_uc002axi.2_Translation_Start_Site|STRA6_uc010ulh.1_Missense_Mutation_p.P128H|STRA6_uc002axj.2_Missense_Mutation_p.P129H|STRA6_uc010bji.2_Missense_Mutation_p.P90H|STRA6_uc002axl.2_Missense_Mutation_p.P22H|STRA6_uc002axm.2_Missense_Mutation_p.P90H|STRA6_uc002axn.2_Intron|STRA6_uc010uli.1_Missense_Mutation_p.P127H|STRA6_uc010bjj.1_RNA|STRA6_uc010bjk.2_Missense_Mutation_p.P90H	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	90	Cytoplasmic (Potential).		P -> L (in MCOPS9).		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						GAAATCCACAGGGCTAGCACA	0.602												
CLK3	1198	broad.mit.edu	37	15	74911653	74911653	+	Missense_Mutation	SNP	G	G	A	rs150279637		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:74911653G>A	uc010uln.1	+	2	1021	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	CLK3_uc002ayg.3_Missense_Mutation_p.R39Q|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R187Q|CLK3_uc002ayj.3_Missense_Mutation_p.R39Q|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	187	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						TACCCGTCCCGAAGGGAGCCT	0.592												
SGK269	79834	broad.mit.edu	37	15	77473380	77473380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:77473380G>A	uc002bcm.2	-	3	1197	c.889C>T	c.(889-891)CGA>TGA	p.R297*	SGK269_uc002bcn.2_Nonsense_Mutation_p.R297*	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	297					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		GACTTGTTTCGCAGGGGGATG	0.443												
CHRNB4	1143	broad.mit.edu	37	15	78921959	78921959	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:78921959G>A	uc002bed.1	-	5	800	c.688C>T	c.(688-690)CGC>TGC	p.R230C	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.R48C	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	230	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						AGAGGCTTGCGCTTGATGATG	0.572												
AP3B2	8120	broad.mit.edu	37	15	83350299	83350299	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:83350299G>A	uc010uoh.1	-	5	571	c.394C>T	c.(394-396)CGT>TGT	p.R132C	AP3B2_uc010uoi.1_Missense_Mutation_p.R132C|AP3B2_uc010uoj.1_Missense_Mutation_p.R100C|AP3B2_uc010uog.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	132					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)			GAGAGGACACGGAGGGCACTG	0.582												
AKAP13	11214	broad.mit.edu	37	15	86028977	86028977	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:86028977C>T	uc002blv.1	+	2	196	c.26C>T	c.(25-27)CCC>CTC	p.P9L	AKAP13_uc002bls.2_Missense_Mutation_p.P9L|AKAP13_uc002blt.1_Missense_Mutation_p.P9L|AKAP13_uc002blu.1_Missense_Mutation_p.P9L	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	9					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|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CAGCAAGCTCCCTTATATGTG	0.333												
ACAN	176	broad.mit.edu	37	15	89382169	89382169	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:89382169G>A	uc010upo.1	+	3	720	c.346G>A	c.(346-348)GCC>ACC	p.A116T	ACAN_uc002bmx.2_Missense_Mutation_p.A116T|ACAN_uc010upp.1_Missense_Mutation_p.A116T|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	116					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCCAGTGACGCCACCTTGGA	0.627												
SEMA4B	10509	broad.mit.edu	37	15	90771643	90771643	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:90771643G>A	uc002boy.2	+	15	2565	c.2282G>A	c.(2281-2283)TGC>TAC	p.C761Y	SEMA4B_uc002boz.2_Missense_Mutation_p.C761Y|SEMA4B_uc010uqd.1_Missense_Mutation_p.C599Y|SEMA4B_uc002bpa.2_Missense_Mutation_p.C599Y|SEMA4B_uc010bnv.1_Intron	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCCAAGACCTGCCCTGTGGTG	0.637												
TTLL13	440307	broad.mit.edu	37	15	90796498	90796498	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:90796498A>T	uc002bpd.1	+	4	604	c.316A>T	c.(316-318)ATG>TTG	p.M106L	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	106	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGCAGCCCAAATGTGTGGCCT	0.552												
BLM	641	broad.mit.edu	37	15	91354578	91354578	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:91354578C>A	uc002bpr.2	+	21	4115	c.4018C>A	c.(4018-4020)CCA>ACA	p.P1340T	BLM_uc010uqh.1_Missense_Mutation_p.P1340T|BLM_uc010uqi.1_Missense_Mutation_p.P965T|BLM_uc010bnx.2_Missense_Mutation_p.P1209T|BLM_uc002bpt.2_Missense_Mutation_p.P315T	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	1340	Nuclear localization signal (Potential).				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAAAAAGATGCCAGCCTCCCA	0.463			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome			
ALDH1A3	220	broad.mit.edu	37	15	101440957	101440957	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:101440957G>T	uc002bwn.3	+	9	1165	c.1061G>T	c.(1060-1062)GGG>GTG	p.G354V	ALDH1A3_uc010bpb.2_Missense_Mutation_p.G247V|uc002bwo.1_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	354					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ACAGAACAGGGGCCTCAGGTA	0.582												
LRRK1	79705	broad.mit.edu	37	15	101529526	101529526	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:101529526C>T	uc002bwr.2	+	6	1004	c.685C>T	c.(685-687)CCT>TCT	p.P229S	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.P229S	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	229					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTGGATAGTCCTGACCCCAG	0.473												
AXIN1	8312	broad.mit.edu	37	16	396464	396464	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:396464C>T	uc002cgp.1	-	2	739	c.562G>A	c.(562-564)GAA>AAA	p.E188K	AXIN1_uc002cgq.1_Missense_Mutation_p.E188K	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	188	RGS.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCCTGGATTTCGGTCTGGGCC	0.517											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
TMEM8A	58986	broad.mit.edu	37	16	426792	426792	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:426792G>A	uc002cgu.3	-	5	785	c.656C>T	c.(655-657)ACG>ATG	p.T219M	TMEM8A_uc002cgv.3_Missense_Mutation_p.T26M	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	219	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						AAGCTCCCGCGTGTAATCGGG	0.667												
STUB1	10273	broad.mit.edu	37	16	731217	731217	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:731217G>A	uc002cit.2	+	2	636	c.225G>A	c.(223-225)CAG>CAA	p.Q75Q	STUB1_uc002ciu.2_Silent_p.Q3Q|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	75	TPR 2.				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				AGATGCAGCAGCACGAGCAGG	0.672												
EME2	197342	broad.mit.edu	37	16	1823424	1823424	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:1823424C>T	uc002cmq.1	+	1	196	c.196C>T	c.(196-198)CTG>TTG	p.L66L	NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.L66L	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	66					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						GGCGTTGCGGCTGCTGCGGCC	0.726								Direct_reversal_of_damage|Homologous_recombination				
NUBP2	10101	broad.mit.edu	37	16	1836845	1836845	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:1836845G>A	uc002cmw.3	+	3	312	c.223G>A	c.(223-225)GGC>AGC	p.G75S	NUBP2_uc002cmx.3_Intron|NUBP2_uc010brx.2_Missense_Mutation_p.G15S	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	75						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0						GTGCGACCGCGGCTGGGCACC	0.682												
ZNF598	90850	broad.mit.edu	37	16	2051158	2051158	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:2051158G>A	uc002cof.1	-	9	1063	c.1048C>T	c.(1048-1050)CGG>TGG	p.R350W	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	350						intracellular	zinc ion binding			lung(1)|breast(1)	2						ACGGAGGCCCGGACAGCAGCT	0.672												
ZNF598	90850	broad.mit.edu	37	16	2052542	2052542	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:2052542G>A	uc002cof.1	-	6	672	c.657C>T	c.(655-657)GAC>GAT	p.D219D	ZNF598_uc002coe.1_5'Flank	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	219						intracellular	zinc ion binding			lung(1)|breast(1)	2						CCTGGGCCCCGTCCGAGTCGC	0.642												
DNASE1L2	1775	broad.mit.edu	37	16	2287831	2287831	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:2287831G>A	uc002cpo.2	+	5	1049	c.655G>A	c.(655-657)GCC>ACC	p.A219T	DNASE1L2_uc002cpn.2_Missense_Mutation_p.A198T|DNASE1L2_uc002cpp.2_Missense_Mutation_p.A219T|DNASE1L2_uc002cpq.2_Missense_Mutation_p.A219T	NM_001374	NP_001365	Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2 precursor	219					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding				0						GGACTGGGCCGCCATCCGTCT	0.667												
SRRM2	23524	broad.mit.edu	37	16	2809397	2809397	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:2809397G>A	uc002crk.2	+	8	1283	c.734G>A	c.(733-735)CGA>CAA	p.R245Q	SRRM2_uc002crj.1_Missense_Mutation_p.R149Q|SRRM2_uc002crl.1_Missense_Mutation_p.R245Q|SRRM2_uc010bsu.1_Missense_Mutation_p.R149Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	245	Sufficient for RNA-binding.|Lys-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GACAAAAAGCGAAAGCGGTGA	0.413												
PKMYT1	9088	broad.mit.edu	37	16	3024408	3024408	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:3024408G>A	uc002csn.2	-	6	1433	c.990C>T	c.(988-990)TCC>TCT	p.S330S	PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.S330S|PKMYT1_uc002cso.2_Silent_p.S261S|PKMYT1_uc002csp.2_Silent_p.S321S|PKMYT1_uc002csq.2_Silent_p.S321S|PKMYT1_uc010bsy.1_Silent_p.S321S	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	330	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1						AACGCAGCTCGGAAGACAGAC	0.662												
CLDN9	9080	broad.mit.edu	37	16	3063742	3063742	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:3063742C>T	uc010uwo.1	+	1	1286	c.379C>T	c.(379-381)CTC>TTC	p.L127F		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	127	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CATCCTCCTCCTCGCCGGCAT	0.652												
PPL	5493	broad.mit.edu	37	16	4934126	4934126	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:4934126G>A	uc002cyd.1	-	22	4620	c.4530C>T	c.(4528-4530)GGC>GGT	p.G1510G		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1510	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GCTCGGTGTCGCCCTTCTCCA	0.647												
SMG1	23049	broad.mit.edu	37	16	18844443	18844443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:18844443G>A	uc002dfm.2	-	51	8974	c.8611C>T	c.(8611-8613)CGA>TGA	p.R2871*	SMG1_uc010bwb.2_Nonsense_Mutation_p.R2731*|SMG1_uc010bwa.2_Nonsense_Mutation_p.R1602*	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2871					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						ATTAAACATCGAAGTGCTTCT	0.373												
UMOD	7369	broad.mit.edu	37	16	20359844	20359844	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:20359844G>A	uc002dgz.2	-	3	908	c.779C>T	c.(778-780)GCG>GTG	p.A260V	UMOD_uc002dha.2_Missense_Mutation_p.A260V|UMOD_uc002dhb.2_Missense_Mutation_p.A293V	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	260					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2						CTGGACGGACGCATCCCACAG	0.672												
DNAH3	55567	broad.mit.edu	37	16	21147803	21147803	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:21147803C>T	uc010vbe.1	-	6	728	c.728G>A	c.(727-729)CGC>CAC	p.R243H	DNAH3_uc002die.2_Missense_Mutation_p.R214H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	243	Stem (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)		CATGTCTTTGCGAATTCCATT	0.473												
EEF2K	29904	broad.mit.edu	37	16	22237143	22237143	+	Silent	SNP	C	C	T	rs148266060		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:22237143C>T	uc002dki.2	+	2	578	c.93C>T	c.(91-93)AGC>AGT	p.S31S	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	31					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		ATGGGGACAGCGACGATGAGG	0.527												
TNRC6A	27327	broad.mit.edu	37	16	24788506	24788506	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:24788506G>T	uc002dmm.2	+	5	530	c.416G>T	c.(415-417)CGA>CTA	p.R139L	TNRC6A_uc010bxs.2_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	139					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)		GTACCTCCACGATTTCGCCAC	0.328												
TUFM	7284	broad.mit.edu	37	16	28855078	28855078	+	Silent	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:28855078C>A	uc002drh.2	-	9	1312	c.1173G>T	c.(1171-1173)CGG>CGT	p.R391R	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	388						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1						GCAGGATAATCCGACAGGCCA	0.522												
SH2B1	25970	broad.mit.edu	37	16	28883542	28883542	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:28883542C>T	uc002dri.2	+	9	1984	c.1545C>T	c.(1543-1545)GGC>GGT	p.G515G	uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.G205G|SH2B1_uc002drj.2_Silent_p.G515G|SH2B1_uc002drk.2_Silent_p.G515G|SH2B1_uc002drl.2_Silent_p.G515G|SH2B1_uc010vdd.1_Silent_p.G179G|SH2B1_uc010vde.1_Silent_p.G515G|SH2B1_uc002drm.2_Silent_p.G515G	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	515	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						AGCCAGAGGGCGGTGAGGGGG	0.642												
RABEP2	79874	broad.mit.edu	37	16	28919999	28919999	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:28919999C>T	uc002drq.2	-	8	1224	c.1176G>A	c.(1174-1176)CTG>CTA	p.L392L	uc010vct.1_Intron|RABEP2_uc010vdf.1_Silent_p.L321L|RABEP2_uc010byn.2_Silent_p.L360L	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	392	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						CTGAGGATGGCAGCTGCTCGG	0.622												
SRCAP	10847	broad.mit.edu	37	16	30740479	30740479	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:30740479T>C	uc002dze.1	+	26	6236	c.5851T>C	c.(5851-5853)TAT>CAT	p.Y1951H	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.Y1746H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1951					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CTTTTGGACTTATACCGAGGC	0.582												
BCL7C	9274	broad.mit.edu	37	16	30904559	30904559	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:30904559C>T	uc002dzv.2	-	2	279	c.145G>A	c.(145-147)GTG>ATG	p.V49M	BCL7C_uc002dzt.1_Missense_Mutation_p.V49M|uc002dzu.2_Intron|MIR762_hsa-mir-762|MI0003892_5'Flank	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	49					apoptosis						0			Colorectal(24;0.198)			ACCACTGGCACCCACTTGAAG	0.622												
MYST1	84148	broad.mit.edu	37	16	31138547	31138547	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:31138547G>A	uc002eay.2	+	5	572	c.554G>A	c.(553-555)GGG>GAG	p.G185E	MYST1_uc002eax.2_Missense_Mutation_p.G185E|MYST1_uc002eaz.2_Missense_Mutation_p.G27E|MYST1_uc002eba.2_5'UTR|MYST1_uc002ebb.2_5'Flank	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	185					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						ATCCACATCGGGAACTACGAA	0.547												
LONP2	83752	broad.mit.edu	37	16	48385596	48385596	+	Silent	SNP	C	C	T	rs150743514		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:48385596C>T	uc002efi.1	+	15	2531	c.2442C>T	c.(2440-2442)AAC>AAT	p.N814N	LONP2_uc002efj.1_Silent_p.N770N	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	814					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						TCCCAGGCAACGTACGACAGG	0.473												
ZNF423	23090	broad.mit.edu	37	16	49671411	49671411	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:49671411G>T	uc002efs.2	-	5	1950	c.1652C>A	c.(1651-1653)CCG>CAG	p.P551Q	ZNF423_uc010vgn.1_Missense_Mutation_p.P434Q	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	551					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CTGCACCACCGGAGACTCTAG	0.572												
ZNF423	23090	broad.mit.edu	37	16	49671517	49671517	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:49671517C>T	uc002efs.2	-	5	1844	c.1546G>A	c.(1546-1548)GCT>ACT	p.A516T	ZNF423_uc010vgn.1_Missense_Mutation_p.A399T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	516					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CAGAAGAAAGCATTATTACCG	0.577												
HEATR3	55027	broad.mit.edu	37	16	50109581	50109581	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:50109581T>C	uc002efw.2	+	6	884	c.722T>C	c.(721-723)GTC>GCC	p.V241A	HEATR3_uc002efx.2_Missense_Mutation_p.V155A	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	241							binding			ovary(1)|skin(1)	2						CTTTCTCCTGTCAGTTCCATG	0.423												
PAPD5	64282	broad.mit.edu	37	16	50259111	50259111	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:50259111C>T	uc010vgo.1	+	11	1705	c.1670C>T	c.(1669-1671)TCG>TTG	p.S557L	PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Intron|PAPD5_uc002ega.2_Missense_Mutation_p.S348L	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding				0		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGTAAAACCTCGGAATCTCTT	0.383												
NOD2	64127	broad.mit.edu	37	16	50746063	50746063	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:50746063C>T	uc002egm.1	+	4	2346	c.2241C>T	c.(2239-2241)TAC>TAT	p.Y747Y	NOD2_uc010cbk.1_Silent_p.Y720Y|NOD2_uc002egl.1_Silent_p.Y525Y|NOD2_uc010cbl.1_Silent_p.Y525Y|NOD2_uc010cbm.1_Silent_p.Y525Y|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	747					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				GGAGCCTGTACGAGATGCAGG	0.627												
CDH5	1003	broad.mit.edu	37	16	66413312	66413312	+	Silent	SNP	A	A	G	rs147924693	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:66413312A>G	uc002eom.3	+	2	228	c.72A>G	c.(70-72)GCA>GCG	p.A24A	CDH5_uc002eon.1_Silent_p.A24A	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	24					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGCAGTGGCAGCAGCAGGTG	0.612												
KCTD19	146212	broad.mit.edu	37	16	67323574	67323574	+	Silent	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:67323574G>T	uc002esu.2	-	16	2730	c.2679C>A	c.(2677-2679)CCC>CCA	p.P893P	KCTD19_uc002est.2_Silent_p.P665P|KCTD19_uc010vjj.1_Silent_p.P636P	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	893						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TCCTGGCGAAGGGCAGTGTAA	0.547												
GFOD2	81577	broad.mit.edu	37	16	67709578	67709578	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:67709578C>T	uc002eub.2	-	3	933	c.638G>A	c.(637-639)GGC>GAC	p.G213D	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.G108D	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	213						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GTGCCGGATGCCACGGATGGC	0.587												
CENPT	80152	broad.mit.edu	37	16	67862729	67862729	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:67862729G>A	uc002eun.3	-	14	1847	c.1298C>T	c.(1297-1299)GCA>GTA	p.A433V	CENPT_uc002eum.3_Missense_Mutation_p.A378V|CENPT_uc010vkc.1_Missense_Mutation_p.A191V|CENPT_uc010vkd.1_Missense_Mutation_p.A186V	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T	433					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CAGAGGCTCTGCAGGCTCTGA	0.592												
CDH1	999	broad.mit.edu	37	16	68862192	68862192	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:68862192C>T	uc002ewg.1	+	14	2404	c.2280C>T	c.(2278-2280)GGC>GGT	p.G760G	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.G699G	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	760	Cytoplasmic (Potential).|Required for binding CTNND1 and PSEN1.			GGG->AAA: Binds to CTNNB1 but abolishes interaction of CTNNB1 with PSEN1. Abolishes gamma-secretase cleavage.	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			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)		AAGAAGGAGGCGGAGAAGAGG	0.478			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
VAC14	55697	broad.mit.edu	37	16	70726786	70726786	+	Silent	SNP	G	G	A	rs140883176		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:70726786G>A	uc002ezm.2	-	18	2382	c.2124C>T	c.(2122-2124)AGC>AGT	p.S708S	VAC14_uc010cfw.2_Silent_p.S474S|VAC14_uc002ezn.2_Silent_p.S273S|VAC14_uc002ezo.1_5'Flank|VAC14_uc002ezl.2_Silent_p.S140S	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	708					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				GCTGGAAGGCGCTGCTCTGCG	0.667												
VAC14	55697	broad.mit.edu	37	16	70815824	70815824	+	Silent	SNP	G	G	A	rs142446813		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:70815824G>A	uc002ezm.2	-	8	1152	c.894C>T	c.(892-894)TCC>TCT	p.S298S	VAC14_uc010cfw.2_Silent_p.S64S|VAC14_uc002ezn.2_Intron	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	298					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				TCAGGATCCCGGAGGAGTAAG	0.557												
MARVELD3	91862	broad.mit.edu	37	16	71674425	71674425	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:71674425C>T	uc002fau.2	+	3	791	c.728C>T	c.(727-729)CCG>CTG	p.P243L	PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				skin(1)	1		Ovarian(137;0.125)				TACTACTCACCGTTCGAGGGC	0.577												
PHLPP2	23035	broad.mit.edu	37	16	71736615	71736615	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:71736615G>A	uc002fax.2	-	2	310	c.304C>T	c.(304-306)CGA>TGA	p.R102*	PHLPP2_uc010cgf.2_Nonsense_Mutation_p.R102*|PHLPP2_uc002fay.1_Nonsense_Mutation_p.R102*	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	102						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						TGAAGAGGTCGTTCAGTAGGT	0.343												
DHODH	1723	broad.mit.edu	37	16	72046132	72046132	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:72046132C>T	uc002fbp.2	+	2	226	c.205C>T	c.(205-207)CGG>TGG	p.R69W	DHODH_uc010cgk.2_RNA	NM_001361	NP_001352	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase precursor	69	Mitochondrial intermembrane (By similarity).				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity				0		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GCTCCTTCCACGGGCCAGATT	0.557												
DHX38	9785	broad.mit.edu	37	16	72130091	72130091	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:72130091G>A	uc002fcb.2	+	2	390	c.35G>A	c.(34-36)CGA>CAA	p.R12Q	TXNL4B_uc010cgl.2_5'Flank|TXNL4B_uc002fca.2_5'Flank|TXNL4B_uc010vmn.1_5'Flank|TXNL4B_uc010vmo.1_5'Flank|DHX38_uc010vmp.1_Missense_Mutation_p.R12Q|DHX38_uc010cgn.1_5'Flank	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	12					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				TCGATCCATCGATTGGAAGGC	0.537												
DHX38	9785	broad.mit.edu	37	16	72134477	72134477	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:72134477G>A	uc002fcb.2	+	9	1614	c.1259G>A	c.(1258-1260)CGC>CAC	p.R420H	DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_RNA	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	420					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				CTGGATGGGCGCATTGTCTTC	0.488												
PMFBP1	83449	broad.mit.edu	37	16	72153907	72153907	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:72153907G>A	uc002fcc.3	-	20	3037	c.2865C>T	c.(2863-2865)GCC>GCT	p.A955A	PMFBP1_uc002fcd.2_Silent_p.A950A|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.A825A	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	955	Potential.									ovary(2)	2		Ovarian(137;0.179)				TTGTGTTCTCGGCTTTCATCT	0.547												
GLG1	2734	broad.mit.edu	37	16	74526881	74526881	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:74526881A>G	uc002fcy.3	-	7	1258	c.1208T>C	c.(1207-1209)ATG>ACG	p.M403T	GLG1_uc002fcx.2_Missense_Mutation_p.M403T|GLG1_uc002fcw.3_Missense_Mutation_p.M392T|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	403	Cys-rich GLG1 5.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						CTCCAGGCACATTAACAAGTA	0.383												
WDR59	79726	broad.mit.edu	37	16	74937943	74937943	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:74937943G>A	uc002fdh.1	-	18	1870	c.1768C>T	c.(1768-1770)CGC>TGC	p.R590C	WDR59_uc002fdf.1_Missense_Mutation_p.R35C|WDR59_uc002fdg.1_Missense_Mutation_p.R182C	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	590										ovary(1)|breast(1)	2						GCCTCTGTGCGGATCTTCATG	0.527												
LDHD	197257	broad.mit.edu	37	16	75148724	75148724	+	Splice_Site	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:75148724C>T	uc002fdm.2	-	4	516	c.469_splice	c.e4+1	p.D157_splice	LDHD_uc002fdn.2_Splice_Site_p.D157_splice	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor								D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						GCGAGTCCTACCCACGGGAAA	0.657												
CHST6	4166	broad.mit.edu	37	16	75512783	75512783	+	Missense_Mutation	SNP	C	C	T	rs140618049	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:75512783C>T	uc002fef.2	-	3	1124	c.944G>A	c.(943-945)CGC>CAC	p.R315H	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R315H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	315	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GGCTTCGCGGCGCGCACCAGG	0.627												
CHST5	23563	broad.mit.edu	37	16	75564134	75564134	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:75564134C>T	uc002fei.2	-	3	1544	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	CHST5_uc002fej.1_Missense_Mutation_p.R56Q	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	50	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GGGCCCTGGCCGGGAGATGAT	0.667												
CDYL2	124359	broad.mit.edu	37	16	80654764	80654764	+	Silent	SNP	G	G	A	rs141862110	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:80654764G>A	uc002ffs.2	-	4	1008	c.903C>T	c.(901-903)AGC>AGT	p.S301S		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	301						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						TCCCCACTGCGCTGAGGAGCA	0.572												
GCSH	2653	broad.mit.edu	37	16	81124283	81124283	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:81124283G>A	uc002fgd.2	-	2	248	c.151C>T	c.(151-153)CGT>TGT	p.R51C	GCSH_uc002fge.2_RNA	NM_004483	NP_004474	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl	51						glycine cleavage complex|mitochondrion	aminomethyltransferase activity				0					Glycine(DB00145)	GTGAATTTACGCACTAAAACA	0.348												
PKD1L2	114780	broad.mit.edu	37	16	81145839	81145839	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:81145839G>A	uc002fgh.1	-	42	6913	c.6913C>T	c.(6913-6915)CGC>TGC	p.R2305C	PKD1L2_uc002fgf.1_Missense_Mutation_p.R105C|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2305	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CAGGCACGGCGTAGGGCTGCC	0.512												
CMIP	80790	broad.mit.edu	37	16	81694495	81694495	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:81694495G>A	uc002fgp.2	+	6	760	c.688G>A	c.(688-690)GCT>ACT	p.A230T	CMIP_uc002fgq.1_Missense_Mutation_p.A136T|CMIP_uc010vnq.1_Missense_Mutation_p.A43T|CMIP_uc002fgr.1_Missense_Mutation_p.A77T	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	196						cytoplasm|nucleus					0						TCAGGCAATCGCTCCTTTGCT	0.348												
KCNG4	93107	broad.mit.edu	37	16	84256361	84256361	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:84256361G>A	uc010voc.1	-	3	1143	c.1022C>T	c.(1021-1023)GCG>GTG	p.A341V		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	341	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						GATGCGCAGCGCTCGCAGCAC	0.701												
USP10	9100	broad.mit.edu	37	16	84812581	84812581	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:84812581C>T	uc002fii.2	+	14	2432	c.2290C>T	c.(2290-2292)CGC>TGC	p.R764C	USP10_uc010voe.1_Missense_Mutation_p.R768C|USP10_uc010vof.1_Missense_Mutation_p.R326C|USP10_uc002fij.2_Missense_Mutation_p.R290C	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	764					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						TGGCTGGCTGCGCATCGATGA	0.567												
ZDHHC7	55625	broad.mit.edu	37	16	85024123	85024123	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:85024123G>A	uc002fiq.2	-	3	455	c.102C>T	c.(100-102)GAC>GAT	p.D34D	ZDHHC7_uc010voi.1_Silent_p.D34D|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	34						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1						GGTCAGCCACGTCAGCCTCGG	0.577												
FAM92B	339145	broad.mit.edu	37	16	85143874	85143874	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:85143874G>A	uc010vok.1	-	2	369	c.213C>T	c.(211-213)TTC>TTT	p.F71F		NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	hypothetical protein LOC339145	71										central_nervous_system(1)	1						GGTCCTCAGCGAAGCCCCTCA	0.662												
COX4I1	1327	broad.mit.edu	37	16	85839437	85839437	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:85839437A>G	uc002fje.2	+	4	504	c.340A>G	c.(340-342)ACC>GCC	p.T114A	COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_Missense_Mutation_p.T114A|COX4I1_uc010vom.1_Missense_Mutation_p.T81A	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	114					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)				CATCGGTTTCACCGCGCTCGT	0.562												
MTHFSD	64779	broad.mit.edu	37	16	86575426	86575426	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:86575426G>A	uc002fjn.2	-	7	609	c.558C>T	c.(556-558)GTC>GTT	p.V186V	MTHFSD_uc010voo.1_Silent_p.V166V|MTHFSD_uc002fjo.2_Silent_p.V23V|MTHFSD_uc002fjm.2_Silent_p.V185V|MTHFSD_uc010vop.1_Silent_p.V23V|MTHFSD_uc010voq.1_Silent_p.V185V|MTHFSD_uc010vor.1_Silent_p.V186V|MTHFSD_uc002fjp.2_Silent_p.V166V	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain	186					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding				0						GGATGTCCACGACCTGGGGGA	0.597												
SPG7	6687	broad.mit.edu	37	16	89614500	89614500	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:89614500G>A	uc002fnj.2	+	12	1663	c.1642G>A	c.(1642-1644)GCC>ACC	p.A548T	SPG7_uc002fnk.1_RNA|SPG7_uc002fnl.2_5'Flank	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	548	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTTCGAGTACGCCGTGGAGCG	0.627												
NXN	64359	broad.mit.edu	37	17	707017	707017	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:707017C>T	uc002fsa.2	-	7	1122	c.1030G>A	c.(1030-1032)GCC>ACC	p.A344T	NXN_uc010vqd.1_Missense_Mutation_p.A35T|NXN_uc002frz.2_Missense_Mutation_p.A95T|NXN_uc010vqe.1_Missense_Mutation_p.A236T	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	344					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		AGCTGCTTGGCCGCCTCGGAC	0.552												
WDR81	124997	broad.mit.edu	37	17	1637358	1637358	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:1637358C>T	uc002fti.2	+	7	1607	c.1346C>T	c.(1345-1347)CCG>CTG	p.P449L	WDR81_uc002fth.2_Missense_Mutation_p.P625L|WDR81_uc010vqp.1_Missense_Mutation_p.P473L|WDR81_uc002ftj.2_Missense_Mutation_p.P1676L|WDR81_uc010vqq.1_Missense_Mutation_p.P307L	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	449										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCCTCTGGCCGCTGTACAAC	0.672												
SERPINF2	5345	broad.mit.edu	37	17	1650347	1650347	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:1650347G>T	uc002ftk.1	+	6	479	c.402G>T	c.(400-402)CAG>CAT	p.Q134H	SERPINF2_uc010vqr.1_Missense_Mutation_p.Q70H	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	134					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GGCTGCAACAGGTGCTGCACG	0.692												
TSR1	55720	broad.mit.edu	37	17	2238058	2238058	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:2238058C>A	uc002fuj.2	-	5	1646	c.689G>T	c.(688-690)GGG>GTG	p.G230V	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	230					ribosome assembly	nucleolus	protein binding			ovary(1)	1						AAGCAGCATCCCTGCCTCCTG	0.473												
PAFAH1B1	5048	broad.mit.edu	37	17	2570463	2570463	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:2570463G>A	uc002fuw.3	+	5	938	c.370G>A	c.(370-372)GTC>ATC	p.V124I	PAFAH1B1_uc010ckb.1_RNA|PAFAH1B1_uc010vqz.1_5'Flank	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	124	WD 1.|Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1						CAGTGTTATGGTCTCTGCTTC	0.328												
RAP1GAP2	23108	broad.mit.edu	37	17	2808601	2808601	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:2808601C>T	uc010ckd.2	+	3	194	c.104C>T	c.(103-105)TCG>TTG	p.S35L	RAP1GAP2_uc010cke.2_Missense_Mutation_p.S35L	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	35					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1						GCCAACAGCTCGGATGCGACC	0.617												
TMEM93	83460	broad.mit.edu	37	17	3572580	3572580	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:3572580C>T	uc002fwf.1	+	2	293	c.140C>T	c.(139-141)ACC>ATC	p.T47I	TAX1BP3_uc002fwc.2_5'Flank|P2RX5_uc002fwd.2_RNA|TAX1BP3_uc002fwe.1_5'Flank|TMEM93_uc002fwg.1_Missense_Mutation_p.T47I|P2RX5_uc002fwh.1_3'UTR	NM_031298	NP_112588	Q9BV81	TMM93_HUMAN	transmembrane protein 93	47						integral to membrane					0						CTCGGCCTCACCGGCCTCTAC	0.632												
ZZEF1	23140	broad.mit.edu	37	17	3966183	3966183	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:3966183C>T	uc002fxe.2	-	30	4811	c.4747G>A	c.(4747-4749)GCC>ACC	p.A1583T	ZZEF1_uc002fxh.2_5'UTR|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.A196T	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1583							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGGGCCTGGGCTTTCCTCAGG	0.522												
SMTNL2	342527	broad.mit.edu	37	17	4496330	4496330	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:4496330G>A	uc002fyf.1	+	3	661	c.594G>A	c.(592-594)ACG>ACA	p.T198T	SMTNL2_uc002fye.2_Silent_p.T54T	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	198											0				READ - Rectum adenocarcinoma(115;0.0325)		AGCCAGTCACGGCCATCACCC	0.642												
CHRNE	1145	broad.mit.edu	37	17	4804101	4804101	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:4804101G>A	uc002fzk.1	-	8	915	c.904C>T	c.(904-906)CCG>TCG	p.P302S	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon	302	Extracellular (Potential).				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						CCCAGGAGCGGCACGCTCAGA	0.637												
CAMTA2	23125	broad.mit.edu	37	17	4883674	4883674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:4883674G>A	uc002gah.1	-	9	1051	c.943C>T	c.(943-945)CGA>TGA	p.R315*	CAMTA2_uc010cku.1_Nonsense_Mutation_p.R338*|CAMTA2_uc002gag.1_Nonsense_Mutation_p.R314*|CAMTA2_uc002gai.1_Nonsense_Mutation_p.R317*|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.1_Nonsense_Mutation_p.R128*	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	315					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GAACCCCCTCGAGAAGTGGGA	0.592											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
USP6	9098	broad.mit.edu	37	17	5073913	5073913	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:5073913A>G	uc002gau.1	+	36	5887	c.3657A>G	c.(3655-3657)TCA>TCG	p.S1219S	USP6_uc002gav.1_Silent_p.S1219S|USP6_uc010ckz.1_Silent_p.S902S	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	1219					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						ATAAGCCGTCAAGTAGTAAGA	0.582			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts							
NLRP1	22861	broad.mit.edu	37	17	5425092	5425092	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:5425092T>C	uc002gci.2	-	13	4090	c.3535A>G	c.(3535-3537)ACA>GCA	p.T1179A	NLRP1_uc002gcg.1_Missense_Mutation_p.T1183A|NLRP1_uc002gck.2_Missense_Mutation_p.T1179A|NLRP1_uc002gcj.2_Missense_Mutation_p.T1149A|NLRP1_uc002gcl.2_Missense_Mutation_p.T1149A|NLRP1_uc002gch.3_Missense_Mutation_p.T1179A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1179					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)				AACAGGGATGTGTCCACATGG	0.383												
NEURL4	84461	broad.mit.edu	37	17	7219602	7219602	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7219602G>A	uc002gga.1	-	29	4536	c.4529C>T	c.(4528-4530)GCG>GTG	p.A1510V	GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Missense_Mutation_p.A1508V	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1510							protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CACCTGGAACGCCACCTGAGC	0.527												
NEURL4	84461	broad.mit.edu	37	17	7226379	7226379	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7226379C>T	uc002gga.1	-	15	2488	c.2481G>A	c.(2479-2481)GCG>GCA	p.A827A	NEURL4_uc002ggb.1_Silent_p.A827A|NEURL4_uc002ggc.1_Silent_p.A173A	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	827	NHR 4.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTGTGCCCAGCGCATCCAGGT	0.602												
C17orf74	201243	broad.mit.edu	37	17	7330257	7330257	+	Missense_Mutation	SNP	G	G	A	rs117934604	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7330257G>A	uc002ggw.2	+	3	1020	c.947G>A	c.(946-948)CGT>CAT	p.R316H	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	316						integral to membrane					0		Prostate(122;0.157)				CAGCGGCGTCGTGGCACGGAG	0.711												
POLR2A	5430	broad.mit.edu	37	17	7405890	7405890	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7405890G>A	uc002ghf.3	+	16	2860	c.2626G>A	c.(2626-2628)GAC>AAC	p.D876N		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	876					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				GGTGAAGTACGACGCGACTGT	0.592												
GUCY2D	3000	broad.mit.edu	37	17	7917940	7917940	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7917940C>T	uc002gjt.2	+	13	2508	c.2434C>T	c.(2434-2436)CGG>TGG	p.R812W		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	812	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CAACAAGGGCCGGAAGACGAA	0.552												
GUCY2D	3000	broad.mit.edu	37	17	7919132	7919132	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7919132G>A	uc002gjt.2	+	16	3090	c.3016G>A	c.(3016-3018)GCC>ACC	p.A1006T		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	1006	Guanylate cyclase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGTCAACACCGCCTCGCGCAT	0.697												
USP43	124739	broad.mit.edu	37	17	9596520	9596520	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:9596520G>A	uc010cod.2	+	9	1430	c.1430G>A	c.(1429-1431)CGG>CAG	p.R477Q	USP43_uc002gma.3_Missense_Mutation_p.R166Q|USP43_uc010vva.1_Missense_Mutation_p.R477Q|USP43_uc010coe.2_Missense_Mutation_p.R274Q	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	477					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						AAGGACAGTCGGCCCCTCTGT	0.512												
GAS7	8522	broad.mit.edu	37	17	9846445	9846445	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:9846445G>A	uc002gmg.1	-	7	885	c.724C>T	c.(724-726)CGG>TGG	p.R242W	GAS7_uc010vvc.1_Missense_Mutation_p.R56W|GAS7_uc002gmh.1_Missense_Mutation_p.R102W|GAS7_uc010vvd.1_Missense_Mutation_p.R194W|GAS7_uc002gmi.2_Missense_Mutation_p.R178W|GAS7_uc002gmj.1_Missense_Mutation_p.R182W|GAS7_uc010coh.1_Missense_Mutation_p.R182W	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	242	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						CACCTTTCCCGGATGAATTCT	0.488			T	MLL	AML*							
PMP22	5376	broad.mit.edu	37	17	15162426	15162426	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:15162426A>G	uc002goj.2	-	2	212	c.163T>C	c.(163-165)TCA>CCA	p.S55P	PMP22_uc002gok.2_Missense_Mutation_p.S55P|PMP22_uc002gol.2_Missense_Mutation_p.S55P	NM_153322	NP_696997	Q01453	PMP22_HUMAN	peripheral myelin protein 22	55					peripheral nervous system development|synaptic transmission	integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		GGTGATGATGAGAAACAGTGG	0.498												
RAI1	10743	broad.mit.edu	37	17	17697948	17697948	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:17697948C>T	uc002grm.2	+	3	2155	c.1686C>T	c.(1684-1686)GAC>GAT	p.D562D	RAI1_uc002grn.1_Silent_p.D562D	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	562						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CCTCTCCTGACGACATGTCCA	0.617												
MYO15A	51168	broad.mit.edu	37	17	18022933	18022933	+	Silent	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:18022933C>A	uc010vxh.1	+	2	1157	c.819C>A	c.(817-819)CCC>CCA	p.P273P		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	273	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)					CCTGGCCACCCTACGGCGACC	0.662												
FLII	2314	broad.mit.edu	37	17	18154602	18154602	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:18154602C>T	uc002gsr.1	-	13	1624	c.1573G>A	c.(1573-1575)GCT>ACT	p.A525T	FLII_uc002gsq.1_Missense_Mutation_p.A396T|FLII_uc010cpy.1_Missense_Mutation_p.A514T|FLII_uc010vxn.1_Missense_Mutation_p.A494T|FLII_uc010vxo.1_Missense_Mutation_p.A470T|FLII_uc002gss.1_Missense_Mutation_p.A524T	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	525	Interaction with ACTL6A.|Gelsolin-like 1.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					TAGCAGTCAGCCTCGTAGAAC	0.592												
TRIM16L	147166	broad.mit.edu	37	17	18631016	18631016	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:18631016G>T	uc002gug.1	+	7	833	c.146G>T	c.(145-147)AGT>ATT	p.S49I	TRIM16L_uc010vyf.1_Missense_Mutation_p.S103I|TRIM16L_uc002guh.1_Missense_Mutation_p.S49I|TRIM16L_uc010cqg.1_Missense_Mutation_p.S151I|TRIM16L_uc002gui.1_Missense_Mutation_p.S49I|TRIM16L_uc010vyg.1_Missense_Mutation_p.S49I|TRIM16L_uc010vyh.1_Missense_Mutation_p.S49I	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	49						cytoplasm					0						ATGGAGAAGAGTAAGCAGGAG	0.572												
FAM18B	51030	broad.mit.edu	37	17	18707468	18707468	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:18707468T>C	uc002gum.2	+	6	505	c.480T>C	c.(478-480)GGT>GGC	p.G160G	FAM18B_uc002gun.2_Silent_p.G96G	NM_016078	NP_057162	Q9NYZ1	F18B1_HUMAN	hypothetical protein LOC51030	160	Helical; (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (53;0.0872)|READ - Rectum adenocarcinoma(1115;0.0967)		TTATCATGGGTGTGGTGCTAC	0.453												
SLC5A10	125206	broad.mit.edu	37	17	18923170	18923170	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:18923170G>A	uc002guu.1	+	13	1596	c.1555G>A	c.(1555-1557)GCC>ACC	p.A519T	SLC5A10_uc002gur.1_Missense_Mutation_p.A489T|SLC5A10_uc002gut.1_Missense_Mutation_p.A535T|SLC5A10_uc002guv.1_Missense_Mutation_p.A492T|SLC5A10_uc010vyl.1_Missense_Mutation_p.A483T	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	519	Helical; (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						CTTCGCTGTCGCCCTCTTTGC	0.652												
CYTSB	92521	broad.mit.edu	37	17	20108291	20108291	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:20108291G>A	uc002gwq.2	+	4	1074	c.929G>A	c.(928-930)CGG>CAG	p.R310Q	CYTSB_uc010cqx.2_Missense_Mutation_p.R310Q|CYTSB_uc002gwr.2_Missense_Mutation_p.R310Q|CYTSB_uc002gws.2_Missense_Mutation_p.R310Q|CYTSB_uc002gwv.2_Missense_Mutation_p.R229Q|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.R86Q|CYTSB_uc002gwt.2_Missense_Mutation_p.R229Q|CYTSB_uc002gwu.2_Missense_Mutation_p.R229Q	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	310	Ser-rich.					nucleus					0						AATGCATTACGGACATCAGGC	0.453												
TMEM11	8834	broad.mit.edu	37	17	21101945	21101945	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:21101945C>T	uc002gyp.2	-	2	714	c.271G>A	c.(271-273)GCC>ACC	p.A91T	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	transmembrane protein 11	91	Helical; (Potential).				mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding				0						AAGAGGCAGGCGGTGCCCGCC	0.617												
VTN	7448	broad.mit.edu	37	17	26694831	26694831	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:26694831C>T	uc002hbc.2	-	7	1378	c.1229G>A	c.(1228-1230)AGC>AAC	p.S410N	SARM1_uc010wah.1_Intron|SEBOX_uc010wai.1_5'Flank|SEBOX_uc010crk.1_5'UTR|SARM1_uc010waj.1_Intron	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	410					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	TCCCAAGTTGCTCTCCTCACT	0.582												
PIGS	94005	broad.mit.edu	37	17	26883896	26883896	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:26883896G>A	uc002hbo.2	-	9	1402	c.1029C>T	c.(1027-1029)GGC>GGT	p.G343G	PIGS_uc002hbn.2_Silent_p.G335G|PIGS_uc010wap.1_Silent_p.G282G	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	343	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)					CCACTGGAGCGCCATCCTTGT	0.567												
ALDOC	230	broad.mit.edu	37	17	26901099	26901099	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:26901099G>T	uc002hbp.2	-	7	930	c.785C>A	c.(784-786)CCC>CAC	p.P262H	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Missense_Mutation_p.P234H	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	262					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					GACAGCTGGGGGCACAGTGCG	0.592												
MYO18A	399687	broad.mit.edu	37	17	27446378	27446378	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:27446378G>A	uc002hdt.1	-	8	1962	c.1804C>T	c.(1804-1806)CTG>TTG	p.L602L	MYO18A_uc010wbc.1_Silent_p.L144L|MYO18A_uc002hds.2_Silent_p.L144L|MYO18A_uc010csa.1_Silent_p.L602L|MYO18A_uc002hdu.1_Silent_p.L602L|MYO18A_uc010wbd.1_Silent_p.L271L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	602	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCACAGGCCAGCAGGTAGTAG	0.582												
CCDC55	84081	broad.mit.edu	37	17	28511866	28511866	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:28511866G>T	uc002heu.2	+	7	879	c.851G>T	c.(850-852)AGG>ATG	p.R284M	CCDC55_uc002hev.2_Missense_Mutation_p.R230M|CCDC55_uc010wbl.1_Missense_Mutation_p.R230M|CCDC55_uc010wbm.1_Missense_Mutation_p.R230M|CCDC55_uc002hex.2_Missense_Mutation_p.R230M	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	coiled-coil domain containing 55 isoform 1	284	His-rich.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding				0						AAGCACCACAGGAGTCAAAAC	0.483												
MYO1D	4642	broad.mit.edu	37	17	31107788	31107788	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:31107788C>T	uc002hho.1	-	2	122	c.110G>A	c.(109-111)CGC>CAC	p.R37H	MYO1D_uc002hhp.1_Missense_Mutation_p.R37H|MYO1D_uc010wcb.1_Missense_Mutation_p.R37H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	37	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CGTATAGATGCGCCCTTTTTC	0.413												
CCL2	6347	broad.mit.edu	37	17	32583268	32583268	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:32583268G>A	uc002hhy.2	+	2	177	c.104G>A	c.(103-105)TGT>TAT	p.C35Y		NM_002982	NP_002973	P13500	CCL2_HUMAN	small inducible cytokine A2 precursor	35				Missing: 90% reduction in activity.|Missing: 83% reduction in activity.	angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			pancreas(1)	1	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	GTCACCTGCTGTTATAACTTC	0.423												
AMAC1	146861	broad.mit.edu	37	17	33520747	33520747	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:33520747C>T	uc002hjd.2	-	1	666	c.580G>A	c.(580-582)GTG>ATG	p.V194M		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	194	Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		AAAGCCTCCACATAGCCCAGG	0.592												
AP2B1	163	broad.mit.edu	37	17	33984642	33984642	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:33984642T>C	uc002hjr.2	+	14	2010	c.1821T>C	c.(1819-1821)GTT>GTC	p.V607V	AP2B1_uc002hjq.2_Silent_p.V607V|AP2B1_uc010wci.1_Silent_p.V569V|AP2B1_uc002hjs.2_Silent_p.V550V|AP2B1_uc002hjt.2_Silent_p.V607V|AP2B1_uc010ctv.2_Silent_p.V607V|AP2B1_uc010wcj.1_Silent_p.V344V	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	607	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACAGCCCTGTTGGCACTACCA	0.473												
MMP28	79148	broad.mit.edu	37	17	34100368	34100368	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:34100368C>T	uc002hjy.1	-	4	679	c.420G>A	c.(418-420)GTG>GTA	p.V140V	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	140					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGGCCAGTTCACCAGGCGGT	0.647												
RDM1	201299	broad.mit.edu	37	17	34249635	34249635	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:34249635C>T	uc002hkh.2	-	5	662	c.613G>A	c.(613-615)GCT>ACT	p.A205T	RDM1_uc010cty.2_Intron|RDM1_uc010ctz.2_Intron|RDM1_uc010cua.2_Missense_Mutation_p.A182T|RDM1_uc002hkg.3_Intron|RDM1_uc010cub.2_RNA|RDM1_uc010cud.2_Intron|RDM1_uc010cuf.2_RNA|RDM1_uc010cue.2_RNA|RDM1_uc010cug.2_Intron|RDM1_uc010cuc.2_Intron|RDM1_uc010wco.1_3'UTR|RDM1_uc010wcp.1_Missense_Mutation_p.A182T|RDM1_uc002hki.2_Missense_Mutation_p.A205T	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	RAD52 motif 1 isoform 1	205					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTCTGAATAGCAAGCTTCTGG	0.373								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
MED1	5469	broad.mit.edu	37	17	37565661	37565661	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:37565661C>T	uc002hrv.3	-	17	3025	c.2813G>A	c.(2812-2814)GGC>GAC	p.G938D	MED1_uc010wee.1_Missense_Mutation_p.G766D|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	938	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TAAAGCTTTGCCGGCTACTGA	0.468										HNSCC(31;0.082)		
STARD3	10948	broad.mit.edu	37	17	37815758	37815758	+	Silent	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:37815758G>T	uc002hsd.2	+	9	871	c.747G>T	c.(745-747)GTG>GTT	p.V249V	STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Silent_p.V231V|STARD3_uc010wei.1_Silent_p.V249V|STARD3_uc002hsf.2_Silent_p.V115V|STARD3_uc002hsg.2_Silent_p.V82V	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	249	START.|Cytoplasmic (Potential).				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGCAGTGGTGGACCAGATCT	0.582												
KRT40	125115	broad.mit.edu	37	17	39140460	39140460	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:39140460T>C	uc010cxh.1	-	3	227	c.66A>G	c.(64-66)GCA>GCG	p.A22A	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	22	Head.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)				TTGAGGCAGGTGCACAACCGG	0.567												
KLHL11	55175	broad.mit.edu	37	17	40010508	40010508	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:40010508C>T	uc002hyf.1	-	2	1617	c.1611G>A	c.(1609-1611)GTG>GTA	p.V537V		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	kelch-like 11 precursor	537	Kelch 4.					extracellular region					0		Breast(137;0.00156)				GCAAAGATTCCACATCTTGCC	0.418												
DHX58	79132	broad.mit.edu	37	17	40255748	40255748	+	Silent	SNP	C	C	T	rs141850808	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:40255748C>T	uc002hyw.3	-	12	1855	c.1632G>A	c.(1630-1632)CGG>CGA	p.R544R	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Silent_p.R537R	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	544	Potential.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAACTGCTGCCGCTGGTTCT	0.667												
PLEKHH3	79990	broad.mit.edu	37	17	40825750	40825750	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:40825750C>T	uc002iau.2	-	4	868	c.401G>A	c.(400-402)AGC>AAC	p.S134N	PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.S134N	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	134	PH.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TTTCCCGCTGCTGCTGAACTG	0.716												
DHX8	1659	broad.mit.edu	37	17	41599488	41599488	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:41599488C>T	uc002idu.1	+	22	3410	c.3337C>T	c.(3337-3339)CGT>TGT	p.R1113C	DHX8_uc010wig.1_Missense_Mutation_p.R1113C	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1113						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGGGTTCTTCCGTAATGCTGC	0.517												
MPP2	4355	broad.mit.edu	37	17	41958079	41958079	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:41958079C>T	uc010wip.1	-	10	1322	c.1265G>A	c.(1264-1266)CGC>CAC	p.R422H	MPP2_uc002ien.1_Missense_Mutation_p.R394H|MPP2_uc010wim.1_Missense_Mutation_p.R366H|MPP2_uc002ieo.1_Missense_Mutation_p.R377H|MPP2_uc010win.1_Missense_Mutation_p.R238H|MPP2_uc010wio.1_Missense_Mutation_p.R366H	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	401	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GGTGCCATAGCGATCTGGATC	0.662											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC4A1	6521	broad.mit.edu	37	17	42338116	42338116	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:42338116G>A	uc002igf.3	-	5	385	c.236C>T	c.(235-237)GCG>GTG	p.A79V	SLC4A1_uc002igg.3_Missense_Mutation_p.A79V	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	79	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CACCCAGCGCGCCGCCTCCAT	0.617												
ITGA2B	3674	broad.mit.edu	37	17	42452962	42452962	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:42452962G>A	uc002igt.1	-	26	2756	c.2724C>T	c.(2722-2724)CTC>CTT	p.L908L	ITGA2B_uc002igu.1_Silent_p.L389L	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	908	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TGCTCACTACGAGAACTGGAT	0.682												
ITGA2B	3674	broad.mit.edu	37	17	42457392	42457392	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:42457392T>C	uc002igt.1	-	17	1762	c.1730A>G	c.(1729-1731)CAC>CGC	p.H577R	ITGA2B_uc002igu.1_Missense_Mutation_p.H58R	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	577	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CATGGTGGTGTGGCAGATGGG	0.642												
KIF18B	146909	broad.mit.edu	37	17	43005605	43005605	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:43005605C>T	uc010wji.1	-	13	2175	c.2074G>A	c.(2074-2076)GTT>ATT	p.V692I	KIF18B_uc002iht.2_Missense_Mutation_p.V701I|KIF18B_uc010wjh.1_Missense_Mutation_p.V689I	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				GCTGGGCAAACGCGAGGGGAA	0.652												
C1QL1	10882	broad.mit.edu	37	17	43044936	43044936	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:43044936C>T	uc002ihv.2	-	1	709	c.481G>A	c.(481-483)GCG>ACG	p.A161T		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	161	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				CCGCTGGCCGCGTCGTAGTTG	0.602												
SP2	6668	broad.mit.edu	37	17	46002810	46002810	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:46002810G>A	uc002imk.2	+	6	1781	c.1644G>A	c.(1642-1644)CTG>CTA	p.L548L	SP2_uc002iml.2_Silent_p.L541L	NM_003110	NP_003101	Q02086	SP2_HUMAN	Sp2 transcription factor	548	C2H2-type 1.				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding				0						ATGTGCGCCTGCACACTGGCG	0.602												
B4GALNT2	124872	broad.mit.edu	37	17	47237944	47237944	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:47237944C>T	uc002ion.2	+	7	946	c.887C>T	c.(886-888)GCC>GTC	p.A296V	B4GALNT2_uc010wlt.1_Missense_Mutation_p.A210V|B4GALNT2_uc010wlu.1_Missense_Mutation_p.A236V	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	296	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			TCCTCAGTGGCCAAGTTTCCA	0.557												
GNGT2	2793	broad.mit.edu	37	17	47284191	47284191	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:47284191G>A	uc002ioo.1	-	4	445	c.138C>T	c.(136-138)AAC>AAT	p.N46N		NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	46					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GAAAAGGATCGTTTCCTGCTT	0.493												
COL1A1	1277	broad.mit.edu	37	17	48263139	48263139	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:48263139C>T	uc002iqm.2	-	50	4374	c.4248G>A	c.(4246-4248)ACG>ACA	p.T1416T		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1416	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GGGCACTCACCGTGCAGCCAT	0.632			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta					
SPAG9	9043	broad.mit.edu	37	17	49057239	49057239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:49057239G>A	uc002itc.2	-	26	3486	c.3277C>T	c.(3277-3279)CGA>TGA	p.R1093*	SPAG9_uc002itb.2_Nonsense_Mutation_p.R1079*|SPAG9_uc002itd.2_Nonsense_Mutation_p.R1083*|SPAG9_uc002ita.2_Nonsense_Mutation_p.R936*	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1093					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCAAGCTGTCGCACTTGGCTC	0.448												
SPAG9	9043	broad.mit.edu	37	17	49067893	49067893	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:49067893A>G	uc002itc.2	-	20	2744	c.2535T>C	c.(2533-2535)GTT>GTC	p.V845V	SPAG9_uc002itb.2_Silent_p.V831V|SPAG9_uc002itd.2_Silent_p.V835V|SPAG9_uc002itf.2_Silent_p.V666V|SPAG9_uc002ita.2_Silent_p.V688V|SPAG9_uc002ite.2_Silent_p.V675V	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	845					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CAGAACAACCAACCACTGTGA	0.468												
BZRAP1	9256	broad.mit.edu	37	17	56389688	56389688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:56389688G>A	uc002ivx.3	-	17	3365	c.2494C>T	c.(2494-2496)CGA>TGA	p.R832*	BZRAP1_uc010dcs.2_Nonsense_Mutation_p.R772*|BZRAP1_uc010wnt.1_Nonsense_Mutation_p.R832*	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	832	Fibronectin type-III 1.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGCCTGTCGCAGCTCCCCA	0.667												
C17orf47	284083	broad.mit.edu	37	17	56620549	56620549	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:56620549G>A	uc002iwq.1	-	1	1135	c.999C>T	c.(997-999)CGC>CGT	p.R333R	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	333										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTGACCCTGCGGCCAACCT	0.542												
DHX40	79665	broad.mit.edu	37	17	57682875	57682875	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:57682875C>T	uc002ixn.1	+	17	2187	c.2040C>T	c.(2038-2040)TAC>TAT	p.Y680Y	DHX40_uc010woe.1_Silent_p.Y603Y|DHX40_uc010wof.1_Silent_p.Y195Y	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	680							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCAAAGTCTACGCAAGAATTG	0.388												
USP32	84669	broad.mit.edu	37	17	58262986	58262986	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:58262986C>A	uc002iyo.1	-	30	3955	c.3669G>T	c.(3667-3669)GAG>GAT	p.E1223D	USP32_uc002iyn.1_Missense_Mutation_p.E893D	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1223					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GCCGACTCTGCTCCACACTCT	0.527												
METTL2A	339175	broad.mit.edu	37	17	60503764	60503764	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:60503764C>T	uc002izv.2	+	3	325	c.307C>T	c.(307-309)CTG>TTG	p.L103L	METTL2A_uc002izw.2_5'UTR	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	103							methyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			ATTCCCTGAGCTGGCACCTAG	0.393												
MRC2	9902	broad.mit.edu	37	17	60768444	60768444	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:60768444G>A	uc002jad.2	+	28	4549	c.4147G>A	c.(4147-4149)GCT>ACT	p.A1383T	MRC2_uc002jae.2_Missense_Mutation_p.A454T|MRC2_uc002jaf.2_Missense_Mutation_p.A249T	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1383	Extracellular (Potential).|C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GCGCCCCGGCGCTTGCACCAA	0.662												
MARCH10	162333	broad.mit.edu	37	17	60879085	60879085	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:60879085G>A	uc010ddr.2	-	2	250	c.12C>T	c.(10-12)GAC>GAT	p.D4D	MARCH10_uc002jag.3_Silent_p.D4D|MARCH10_uc010dds.2_Silent_p.D4D|MARCH10_uc002jah.2_Silent_p.D4D	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	4							ligase activity|zinc ion binding				0						TGTCCCTTGCGTCATGCAACA	0.438												
ACE	1636	broad.mit.edu	37	17	61574216	61574216	+	Silent	SNP	G	G	A	rs141429845		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:61574216G>A	uc002jau.1	+	24	3583	c.3561G>A	c.(3559-3561)ACG>ACA	p.T1187T	ACE_uc002jav.1_Silent_p.T613T|ACE_uc010ddv.1_Silent_p.T414T|ACE_uc010wpj.1_Silent_p.T572T|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Silent_p.T392T	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1187	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGCTGATCACGGGCCAGCCCA	0.632												
SCN4A	6329	broad.mit.edu	37	17	62041916	62041916	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:62041916T>C	uc002jds.1	-	9	1441	c.1364A>G	c.(1363-1365)GAG>GGG	p.E455G		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	455					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CAGGGTGGCCTCATTCTGCTC	0.522												
ERN1	2081	broad.mit.edu	37	17	62149396	62149396	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:62149396C>T	uc002jdz.2	-	6	536	c.423G>A	c.(421-423)TCG>TCA	p.S141S		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	141	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						CTGCAAAGGCCGATGACAAAG	0.453												
CACNG5	27091	broad.mit.edu	37	17	64881248	64881248	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:64881248G>A	uc010wqi.1	+	6	956	c.719G>A	c.(718-720)GGC>GAC	p.G240D	CACNG5_uc010wqj.1_Missense_Mutation_p.G240D	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	240				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)			TGGGTCAGGGGCCGCAGCCCC	0.617												
SLC39A11	201266	broad.mit.edu	37	17	71084850	71084850	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:71084850G>A	uc002jjb.2	-	2	169	c.54C>T	c.(52-54)ACC>ACT	p.T18T	SLC39A11_uc002jja.2_Silent_p.T18T|SLC39A11_uc002jjc.1_Silent_p.T18T	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	18	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						TCATCCCCCAGGTGAAGAAGG	0.592												
SDK2	54549	broad.mit.edu	37	17	71389713	71389713	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:71389713C>T	uc010dfm.2	-	27	3884	c.3884G>A	c.(3883-3885)CGG>CAG	p.R1295Q	SDK2_uc002jjt.3_Missense_Mutation_p.R454Q|SDK2_uc010dfn.2_Missense_Mutation_p.R974Q	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1295	Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						ATCCAGCGTCCGCTCCAGGAT	0.642												
SDK2	54549	broad.mit.edu	37	17	71427647	71427647	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:71427647C>T	uc010dfm.2	-	11	1474	c.1474G>A	c.(1474-1476)GTT>ATT	p.V492I	SDK2_uc010dfn.2_Missense_Mutation_p.V171I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	492	Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						TCACCCCAAACGACTAGGTCT	0.597												
KIF19	124602	broad.mit.edu	37	17	72344014	72344014	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:72344014C>T	uc002jkm.3	+	9	1161	c.1023C>T	c.(1021-1023)GGC>GGT	p.G341G	KIF19_uc002jkj.2_Silent_p.G341G|KIF19_uc002jkk.2_Silent_p.G299G|KIF19_uc002jkl.2_Silent_p.G299G	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	341					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						CCTACGCCGGCCGGGCCAAGA	0.622												
BTBD17	388419	broad.mit.edu	37	17	72356374	72356374	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:72356374G>A	uc002jkn.2	-	2	96	c.96C>T	c.(94-96)GCC>GCT	p.A32A		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	32						extracellular region					0						CGCCAACATCGGCTCTCTGTG	0.642												
KIAA0195	9772	broad.mit.edu	37	17	73487495	73487495	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73487495C>A	uc002jnz.3	+	13	1620	c.1345C>A	c.(1345-1347)CTC>ATC	p.L449I	KIAA0195_uc010wsa.1_Missense_Mutation_p.L459I|KIAA0195_uc010wsb.1_Missense_Mutation_p.L101I	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	449					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)			CCATGAGGACCTCACCGATGG	0.622												
KIAA0195	9772	broad.mit.edu	37	17	73488711	73488711	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73488711C>A	uc002jnz.3	+	15	2028	c.1753C>A	c.(1753-1755)CTG>ATG	p.L585M	KIAA0195_uc010wsa.1_Missense_Mutation_p.L595M|KIAA0195_uc010wsb.1_Missense_Mutation_p.L225M|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	585					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)			CCTCAAACCCCTGGGCCTCAA	0.607												
RECQL5	9400	broad.mit.edu	37	17	73627305	73627305	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73627305G>A	uc010dgl.2	-	10	1629	c.1473C>T	c.(1471-1473)AGC>AGT	p.S491S	RECQL5_uc010dgk.2_Silent_p.S464S|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	491					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTTCATCCCCGCTGCCTCCAG	0.617								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
ITGB4	3691	broad.mit.edu	37	17	73729750	73729750	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73729750G>A	uc002jpg.2	+	13	1821	c.1634G>A	c.(1633-1635)CGC>CAC	p.R545H	ITGB4_uc002jph.2_Missense_Mutation_p.R545H|ITGB4_uc010dgo.2_Missense_Mutation_p.R545H|ITGB4_uc002jpi.3_Missense_Mutation_p.R545H|ITGB4_uc010dgp.1_Missense_Mutation_p.R545H|ITGB4_uc002jpj.2_Missense_Mutation_p.R545H|ITGB4_uc010wsh.1_Missense_Mutation_p.R100H	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	545	III.|Extracellular (Potential).|Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGTGTCCCCGCACTTCCGGG	0.617												
UNK	85451	broad.mit.edu	37	17	73805973	73805973	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73805973C>T	uc002jpm.2	+	3	465	c.465C>T	c.(463-465)GAC>GAT	p.D155D		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	79							nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGTCGGGACGGCACCTTCA	0.622												
MRPL38	64978	broad.mit.edu	37	17	73895038	73895038	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73895038G>A	uc010wso.1	-	9	1261	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	FBF1_uc002jqa.1_RNA|TRIM65_uc002jpx.2_5'Flank|MRPL38_uc002jpz.1_RNA	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38 precursor	346						actin cytoskeleton|mitochondrion|ribosome				pancreas(1)	1			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGCGGCCGCACGAACTCA	0.667												
EVPL	2125	broad.mit.edu	37	17	74003199	74003199	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:74003199C>T	uc002jqi.2	-	22	6315	c.6087G>A	c.(6085-6087)CCG>CCA	p.P2029P	EVPL_uc010wss.1_Silent_p.P2051P|EVPL_uc010wst.1_Silent_p.P1499P	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	2029	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						GAAGGGAGCGCGGGACGGTGG	0.682												
EXOC7	23265	broad.mit.edu	37	17	74079821	74079821	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:74079821C>T	uc002jqs.2	-	20	2211	c.2116G>A	c.(2116-2118)GTG>ATG	p.V706M	EXOC7_uc002jqp.1_Silent_p.A167A|EXOC7_uc010dgv.1_Missense_Mutation_p.V580M|EXOC7_uc002jqq.2_Missense_Mutation_p.V655M|EXOC7_uc010wsw.1_Missense_Mutation_p.V678M|EXOC7_uc010wsx.1_Missense_Mutation_p.V647M|EXOC7_uc002jqr.2_Missense_Mutation_p.V624M|EXOC7_uc010wsv.1_Missense_Mutation_p.V627M	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	706					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGAAGGGCACGCTGCCAAAC	0.612												
FOXJ1	2302	broad.mit.edu	37	17	74133820	74133820	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:74133820G>A	uc002jqw.2	-	2	970	c.880C>T	c.(880-882)CCC>TCC	p.P294S	FOXJ1_uc002jqx.2_Missense_Mutation_p.P294S|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	294					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			TCCGGGGTGGGCAGCAGGGTG	0.706												
GAA	2548	broad.mit.edu	37	17	78081640	78081640	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:78081640G>A	uc002jxo.2	+	6	1082	c.900G>A	c.(898-900)GCG>GCA	p.A300A	GAA_uc002jxp.2_Silent_p.A300A|GAA_uc002jxq.2_Silent_p.A300A	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	300					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TCTACCTGGCGCTGGAGGACG	0.652												
AZI1	22994	broad.mit.edu	37	17	79180662	79180662	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:79180662G>A	uc002jzp.1	-	5	597	c.397C>T	c.(397-399)CCC>TCC	p.P133S	AZI1_uc002jzn.1_Missense_Mutation_p.P133S|AZI1_uc002jzo.1_Missense_Mutation_p.P133S|AZI1_uc010wum.1_Missense_Mutation_p.P133S	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	133					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AAGCCCCGGGGCTGGTCATCC	0.652												
USP14	9097	broad.mit.edu	37	18	211172	211172	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:211172T>C	uc002kkf.1	+	16	1589	c.1373T>C	c.(1372-1374)GTA>GCA	p.V458A	USP14_uc002kkg.1_Missense_Mutation_p.V423A|USP14_uc010wyr.1_Missense_Mutation_p.V447A	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	458					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GTCAGCATCGTAACACCAGAA	0.413												
DLGAP1	9229	broad.mit.edu	37	18	3879562	3879562	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:3879562G>A	uc002kmf.2	-	1	574	c.507C>T	c.(505-507)AGC>AGT	p.S169S	DLGAP1_uc010wyz.1_Silent_p.S169S|DLGAP1_uc002kmk.2_Silent_p.S169S|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	169					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				CCTCGTCAGGGCTGGCCTTGC	0.711												
LAMA1	284217	broad.mit.edu	37	18	6955369	6955369	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:6955369C>T	uc002knm.2	-	57	8284	c.8190G>A	c.(8188-8190)CAG>CAA	p.Q2730Q	LAMA1_uc002knk.2_Silent_p.Q60Q|LAMA1_uc002knl.2_Silent_p.Q183Q|LAMA1_uc010wzj.1_Silent_p.Q2206Q	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2730	Laminin G-like 4.				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)	TGACAGCCGACTGATTAAAAG	0.478												
LAMA1	284217	broad.mit.edu	37	18	7036056	7036056	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:7036056G>A	uc002knm.2	-	13	1863	c.1769C>T	c.(1768-1770)ACG>ATG	p.T590M	LAMA1_uc010wzj.1_Missense_Mutation_p.T66M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	590	Laminin IV type A 1.				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)	GTAGGACACCGTGTATTTCAG	0.438												
AFG3L2	10939	broad.mit.edu	37	18	12356744	12356744	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:12356744G>A	uc002kqz.1	-	9	1226	c.1113C>T	c.(1111-1113)ACC>ACT	p.T371T		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	371					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)	ATCCACTAACGGTGATGAAGG	0.527												
C18orf8	29919	broad.mit.edu	37	18	21087004	21087004	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:21087004A>G	uc010xax.1	+	3	371	c.250A>G	c.(250-252)ACC>GCC	p.T84A	C18orf8_uc010xau.1_Intron|C18orf8_uc010xav.1_Missense_Mutation_p.T84A|C18orf8_uc010xaw.1_Intron|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	84										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGTTCAGAGGACCTCAAAGAC	0.333												
KCTD1	284252	broad.mit.edu	37	18	24039686	24039686	+	Silent	SNP	G	G	A	rs146911358		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:24039686G>A	uc002kvw.2	-	4	1073	c.513C>T	c.(511-513)ATC>ATT	p.I171I	KCTD1_uc010xbj.1_Silent_p.I779I|KCTD1_uc010xbk.1_Silent_p.I171I|KCTD1_uc002kvy.2_Silent_p.I89I	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	171					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TCACGTCGCCGATCTCTGGAA	0.532												
FAM59A	64762	broad.mit.edu	37	18	29972946	29972946	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:29972946G>A	uc002kxl.2	-	2	230	c.174C>T	c.(172-174)TGC>TGT	p.C58C	FAM59A_uc002kxk.1_Silent_p.C58C	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	58	CABIT.									ovary(1)|skin(1)	2						TCCACTGGCGGCAGGAATGAA	0.458												
KLHL14	57565	broad.mit.edu	37	18	30349887	30349887	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:30349887G>A	uc002kxm.1	-	2	1056	c.668C>T	c.(667-669)GCC>GTC	p.A223V		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	223	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GTCCAGCAGGGCGCGCATCTC	0.647												
RPRD1A	55197	broad.mit.edu	37	18	33573116	33573116	+	Nonstop_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:33573116A>G	uc002kzf.1	-	7	943	c.937T>C	c.(937-939)TGA>CGA	p.*313R	RPRD1A_uc002kze.1_Nonstop_Mutation_p.*277R|RPRD1A_uc002kzg.2_Nonstop_Mutation_p.*313R|RPRD1A_uc010dmw.2_Nonstop_Mutation_p.*277R	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	313										ovary(1)|breast(1)	2						CTGGTCCATCAATCTTCACTG	0.498												
MOCOS	55034	broad.mit.edu	37	18	33780188	33780188	+	Missense_Mutation	SNP	C	C	T	rs150272391	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:33780188C>T	uc002kzq.3	+	4	865	c.842C>T	c.(841-843)GCG>GTG	p.A281V		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	281					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CATAATCGTGCGGCTCCTCTA	0.562												
TCEB3B	51224	broad.mit.edu	37	18	44560119	44560119	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:44560119C>T	uc002lcr.1	-	1	1870	c.1517G>A	c.(1516-1518)CGC>CAC	p.R506H	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	506	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						ATTCACTCTGCGTCCAGGGAA	0.587												
KIAA0427	9811	broad.mit.edu	37	18	46284514	46284514	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:46284514A>G	uc002ldc.2	+	8	1094	c.809A>G	c.(808-810)AAT>AGT	p.N270S	KIAA0427_uc002ldd.2_Missense_Mutation_p.N270S|KIAA0427_uc002lde.3_5'Flank	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	270	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						GCACACCGCAATGCCAAAGAG	0.647												
DCC	1630	broad.mit.edu	37	18	50278528	50278528	+	Missense_Mutation	SNP	G	G	A	rs144331156	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:50278528G>A	uc002lfe.1	+	2	783	c.196G>A	c.(196-198)GAC>AAC	p.D66N	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	66	Extracellular (Potential).|Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGCGGAGTCCGACCGAGGAGT	0.507												
C18orf54	162681	broad.mit.edu	37	18	51904599	51904599	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:51904599C>T	uc002lfn.3	+	8	1218	c.1102C>T	c.(1102-1104)CGG>TGG	p.R368W	C18orf54_uc002lfo.3_Missense_Mutation_p.R529W	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	368						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		GAATGGAGAACGGTCACCGAA	0.353												
TCF4	6925	broad.mit.edu	37	18	52899754	52899754	+	Silent	SNP	A	A	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:52899754A>C	uc002lfz.2	-	17	2247	c.1635T>G	c.(1633-1635)ACT>ACG	p.T545T	TCF4_uc002lfw.3_Silent_p.T385T|TCF4_uc010xdu.1_Silent_p.T415T|TCF4_uc010xdv.1_Silent_p.T415T|TCF4_uc002lfx.2_Silent_p.T474T|TCF4_uc010xdw.1_Silent_p.T415T|TCF4_uc002lfy.2_Silent_p.T503T|TCF4_uc010xdx.1_Silent_p.T521T|TCF4_uc010dph.1_Silent_p.T545T|TCF4_uc010xdy.1_Silent_p.T521T|TCF4_uc002lga.2_Silent_p.T647T|TCF4_uc002lgb.1_Silent_p.T385T|TCF4_uc010dpi.2_Silent_p.T551T|TCF4_uc002lfv.2_Silent_p.T328T	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b	545					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|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|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ATCTTGACCTAGTAATTGATT	0.373												
WDR7	23335	broad.mit.edu	37	18	54349956	54349956	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:54349956G>A	uc002lgk.1	+	5	603	c.392G>A	c.(391-393)TGC>TAC	p.C131Y	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.C131Y	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	131										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGCTTTTATGCCACGGACAT	0.403												
WDR7	23335	broad.mit.edu	37	18	54591291	54591291	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:54591291T>C	uc002lgk.1	+	22	3876	c.3665T>C	c.(3664-3666)CTG>CCG	p.L1222P	WDR7_uc002lgl.1_Missense_Mutation_p.L1189P	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1222										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		TCCGCTGTTCTGATGGGGCTT	0.468												
ZNF532	55205	broad.mit.edu	37	18	56648737	56648737	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:56648737G>A	uc002lho.2	+	10	3846	c.3299G>A	c.(3298-3300)CGT>CAT	p.R1100H	ZNF532_uc002lhp.2_Missense_Mutation_p.R1098H|ZNF532_uc010xeg.1_Missense_Mutation_p.R1098H|ZNF532_uc002lhr.2_Missense_Mutation_p.R1098H|ZNF532_uc002lhs.2_Missense_Mutation_p.R1098H|ZNF532_uc010xeh.1_Missense_Mutation_p.R188H	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1100	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						TTTACCAAACGTTTGATGCTG	0.483												
CDH7	1005	broad.mit.edu	37	18	63547737	63547737	+	Silent	SNP	C	C	T	rs116347805	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:63547737C>T	uc002ljz.2	+	12	2290	c.1965C>T	c.(1963-1965)GAC>GAT	p.D655D	CDH7_uc002lkb.2_Silent_p.D655D	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	655	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				GATACGATGACGAGGGCGGGG	0.493												
CBLN2	147381	broad.mit.edu	37	18	70209141	70209141	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:70209141G>A	uc002lku.2	-	2	490	c.255C>T	c.(253-255)TCC>TCT	p.S85S	CBLN2_uc002lkv.2_Silent_p.S85S	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	85						integral to membrane					0		Esophageal squamous(42;0.131)				CGGAGCGCACGGAGATGCCTA	0.667												
NETO1	81832	broad.mit.edu	37	18	70451000	70451000	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:70451000G>A	uc002lkw.2	-	7	1065	c.781C>T	c.(781-783)CGC>TGC	p.R261C	NETO1_uc002lkx.1_Missense_Mutation_p.R260C|NETO1_uc002lky.1_Missense_Mutation_p.R261C	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	261	CUB 2.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGACCCGTGCGTAGCATGACA	0.483												
CNDP1	84735	broad.mit.edu	37	18	72223581	72223581	+	Silent	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:72223581C>A	uc002llq.2	+	2	244	c.33C>A	c.(31-33)TCC>TCA	p.S11S		NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	11					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		AGGCTGCGTCCCTGCTGGCTG	0.562												
ZNF516	9658	broad.mit.edu	37	18	74091962	74091962	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:74091962G>A	uc010dqx.1	-	3	2343	c.2108C>T	c.(2107-2109)ACG>ATG	p.T703M	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGGTGACCCGTCTGGCCCTC	0.582												
ATP9B	374868	broad.mit.edu	37	18	77137342	77137342	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:77137342C>T	uc002lmx.2	+	30	3417	c.3403C>T	c.(3403-3405)CGC>TGC	p.R1135C	ATP9B_uc002lmw.1_Missense_Mutation_p.R1124C|ATP9B_uc002lna.2_Missense_Mutation_p.R150C|ATP9B_uc010drb.2_RNA	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1135	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GTACCTGAGGCGCAAGCTCTC	0.607												
CTDP1	9150	broad.mit.edu	37	18	77489024	77489024	+	Silent	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:77489024G>T	uc002lnh.1	+	11	2682	c.2535G>T	c.(2533-2535)CCG>CCT	p.P845P	CTDP1_uc002lni.1_Intron|CTDP1_uc010drd.1_Silent_p.P845P	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	845					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGACAATGCCGCTGTACACTC	0.592												
PARD6G	84552	broad.mit.edu	37	18	77918087	77918087	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:77918087G>A	uc002lny.2	-	3	864	c.698C>T	c.(697-699)ACG>ATG	p.T233M	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	233	PDZ.|Interaction with PARD3 and CDC42 (By similarity).				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CATCATGTCCGTGACCTGGTC	0.672												
HCN2	610	broad.mit.edu	37	19	605125	605125	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:605125T>C	uc002lpe.2	+	3	1174	c.1121T>C	c.(1120-1122)ATG>ACG	p.M374T		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	374	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)		ATCAGCATGATGCTGCTGCTC	0.607												
POLRMT	5442	broad.mit.edu	37	19	621231	621231	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:621231C>G	uc002lpf.1	-	10	2523	c.2467G>C	c.(2467-2469)GCC>CCC	p.A823P		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	823	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		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)		TCCAGCAGGGCCCGCGCCACG	0.701												
WDR18	57418	broad.mit.edu	37	19	984397	984397	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:984397C>T	uc002lqm.1	+	1	70	c.44C>T	c.(43-45)GCC>GTC	p.A15V	WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Missense_Mutation_p.A15V|WDR18_uc010dry.1_Missense_Mutation_p.A15V	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	WD repeat domain 18	15										skin(1)	1		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)		GACTCGGCGGCCCCGATGTGG	0.701												
NDUFS7	374291	broad.mit.edu	37	19	1387831	1387831	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:1387831G>A	uc002lse.3	+	2	81	c.38G>A	c.(37-39)CGG>CAG	p.R13Q	NDUFS7_uc002lsf.2_Missense_Mutation_p.R77Q|NDUFS7_uc002lsh.2_Missense_Mutation_p.R77Q|NDUFS7_uc002lsg.2_5'UTR	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	13					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	CGCGGCTTCCGGATCCTTGGT	0.716												
PCSK4	54760	broad.mit.edu	37	19	1487292	1487292	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:1487292T>C	uc002ltb.1	-	7	765	c.703A>G	c.(703-705)ACC>GCC	p.T235A	PCSK4_uc002lta.2_Missense_Mutation_p.T47A	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	235	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)		TCGGTGATGGTACCGTCCAGC	0.532												
DOT1L	84444	broad.mit.edu	37	19	2216574	2216574	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:2216574G>A	uc002lvb.3	+	20	2254	c.2218G>A	c.(2218-2220)GCC>ACC	p.A740T	DOT1L_uc002lvc.1_Missense_Mutation_p.A34T|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.A34T	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	740						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		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)		CCAGTACCTGGCCTCACCCCT	0.667												
LINGO3	645191	broad.mit.edu	37	19	2290788	2290788	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:2290788G>A	uc010dsx.1	-	2	1116	c.988C>T	c.(988-990)CTC>TTC	p.L330F	SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	330	Extracellular (Potential).|LRR 11.					integral to membrane					0						AACGTGGAGAGCAGGTTGTTG	0.677												
SPPL2B	56928	broad.mit.edu	37	19	2352963	2352963	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:2352963C>T	uc002lvs.2	+	16	1615	c.1535C>T	c.(1534-1536)CCG>CTG	p.P512L	SPPL2B_uc002lvr.2_3'UTR	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	512	Pro-rich.					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		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)		CCTCCATCTCCGTGGGCCCCA	0.682												
TBXA2R	6915	broad.mit.edu	37	19	3600160	3600160	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:3600160G>A	uc002lyg.1	-	2	687	c.473C>T	c.(472-474)GCG>GTG	p.A158V	TBXA2R_uc002lye.1_Intron	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	158	Helical; Name=4; (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CAGCGCGGCCGCCCACACCAG	0.751												
C19orf29	58509	broad.mit.edu	37	19	3614486	3614486	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:3614486C>T	uc002lyh.2	-	7	1317	c.1264G>A	c.(1264-1266)GAG>AAG	p.E422K	C19orf29_uc010xho.1_5'UTR|C19orf29_uc010dtn.2_Missense_Mutation_p.E270K|C19orf29_uc002lyi.3_Missense_Mutation_p.E422K|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	422						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTTTGCCCTCGATGCCCTGG	0.632												
APBA3	9546	broad.mit.edu	37	19	3759909	3759909	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:3759909G>A	uc002lyp.1	-	2	531	c.354C>T	c.(352-354)TGC>TGT	p.C118C	MRPL54_uc002lyq.3_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding,	118					intracellular signal transduction|protein transport	intracellular|membrane	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCATTCCTCGCAGTGCAAGA	0.647												
MATK	4145	broad.mit.edu	37	19	3779034	3779034	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:3779034G>A	uc002lyt.2	-	12	1553	c.1153C>T	c.(1153-1155)CGG>TGG	p.R385W	MATK_uc002lyv.2_Missense_Mutation_p.R386W|MATK_uc002lyu.2_Missense_Mutation_p.R344W|MATK_uc010dtq.2_Missense_Mutation_p.R385W	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	385	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGGCAGCCGGCTTGAGTCT	0.607												
STAP2	55620	broad.mit.edu	37	19	4329976	4329976	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:4329976C>T	uc002mab.2	-	5	534	c.437G>A	c.(436-438)CGT>CAT	p.R146H	STAP2_uc002mac.2_Missense_Mutation_p.R146H|STAP2_uc002mad.2_Missense_Mutation_p.R39H	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	146	SH2.					cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGTGCACGGCGCGCCTC	0.647												
CHAF1A	10036	broad.mit.edu	37	19	4409287	4409287	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:4409287T>C	uc002mal.2	+	3	591	c.491T>C	c.(490-492)ATT>ACT	p.I164T		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	164	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAAGGCCATTCAGAACGAC	0.527								Chromatin_Structure				
SEMA6B	10501	broad.mit.edu	37	19	4552637	4552637	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:4552637G>A	uc010duc.1	-	9	824	c.786C>T	c.(784-786)CGC>CGT	p.R262R	SEMA6B_uc010dud.2_Silent_p.R262R|SEMA6B_uc010xih.1_Silent_p.R262R	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	262	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGGGCCACGCGGGACACCA	0.657												
PTPRS	5802	broad.mit.edu	37	19	5208389	5208389	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:5208389C>T	uc002mbv.2	-	36	5735	c.5501G>A	c.(5500-5502)CGG>CAG	p.R1834Q	PTPRS_uc002mbu.1_Missense_Mutation_p.R1403Q|PTPRS_uc010xin.1_Missense_Mutation_p.R1376Q|PTPRS_uc002mbw.2_Missense_Mutation_p.R1796Q|PTPRS_uc002mbx.2_Missense_Mutation_p.R1391Q|PTPRS_uc002mby.2_Missense_Mutation_p.R1387Q	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1834	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCGGACAGTCCGGGACTGGCC	0.552												
LONP1	9361	broad.mit.edu	37	19	5713220	5713220	+	Missense_Mutation	SNP	G	G	A	rs147052599		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:5713220G>A	uc002mcx.2	-	3	596	c.563C>T	c.(562-564)ACG>ATG	p.T188M	LONP1_uc002mcy.2_Missense_Mutation_p.T124M|LONP1_uc010duh.2_Translation_Start_Site|LONP1_uc010dui.2_Missense_Mutation_p.T188M|LONP1_uc002mcz.2_Translation_Start_Site	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	188	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						AAACGTCCCCGTGTGGTAGAT	0.562												
SLC25A41	284427	broad.mit.edu	37	19	6429808	6429808	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:6429808G>T	uc010dus.2	-	4	637	c.551C>A	c.(550-552)CCG>CAG	p.P184Q	SLC25A41_uc010dut.2_Missense_Mutation_p.P46Q	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	184	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						CTGGAAGGGCGGGGACCCTTG	0.597												
TUBB4	10382	broad.mit.edu	37	19	6495747	6495747	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:6495747C>T	uc002mfg.1	-	4	870	c.763G>A	c.(763-765)GTC>ATC	p.V255I	TUBB4_uc002mff.1_Missense_Mutation_p.V183I|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	255					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		ACCATGTTGACGGCCAGCTTG	0.682												
INSR	3643	broad.mit.edu	37	19	7184342	7184342	+	Missense_Mutation	SNP	G	G	A	rs138528064	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:7184342G>A	uc002mgd.1	-	3	1068	c.959C>T	c.(958-960)ACG>ATG	p.T320M	INSR_uc002mge.1_Missense_Mutation_p.T320M|INSR_uc002mgf.2_Missense_Mutation_p.T320M	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	320	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAATTCATCGTGTACCCGGA	0.557												
PNPLA6	10908	broad.mit.edu	37	19	7620635	7620635	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:7620635C>T	uc010xjq.1	+	26	3304	c.3109C>T	c.(3109-3111)CGG>TGG	p.R1037W	PNPLA6_uc002mgq.1_Missense_Mutation_p.R989W|PNPLA6_uc010xjp.1_Missense_Mutation_p.R962W|PNPLA6_uc002mgr.1_Missense_Mutation_p.R989W|PNPLA6_uc002mgs.2_Missense_Mutation_p.R1027W|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1028	Patatin.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						GCAGCGGGCCCGGGAGTGGGC	0.657												
XAB2	56949	broad.mit.edu	37	19	7687526	7687526	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:7687526G>A	uc002mgx.2	-	11	1419	c.1393C>T	c.(1393-1395)CGC>TGC	p.R465C		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	465					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						TCGGCCCGGCGGGCAGGCAGC	0.682								Direct_reversal_of_damage|NER				
HNRNPM	4670	broad.mit.edu	37	19	8533700	8533700	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:8533700C>T	uc010dwe.2	+	9	957	c.877C>T	c.(877-879)CGT>TGT	p.R293C	HNRNPM_uc010dwc.1_Missense_Mutation_p.R293C|HNRNPM_uc010xke.1_Missense_Mutation_p.R254C|HNRNPM_uc010dwd.2_Missense_Mutation_p.R254C|HNRNPM_uc002mka.2_Missense_Mutation_p.R173C	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	293					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						CCCTCCTGAGCGTCCACAACA	0.348												
MYO1F	4542	broad.mit.edu	37	19	8609213	8609213	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:8609213C>T	uc002mkg.2	-	14	1606	c.1492G>A	c.(1492-1494)GCC>ACC	p.A498T		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	498	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						ACGAAGCCGGCGCTCCAGCTG	0.687												
MUC16	94025	broad.mit.edu	37	19	8982158	8982158	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:8982158G>A	uc002mkp.2	-	70	42321	c.42117C>T	c.(42115-42117)AAC>AAT	p.N14039N	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.N856N|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	14064	Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCTGCTCACCGTTAAGGTAGA	0.572												
MUC16	94025	broad.mit.edu	37	19	9057156	9057156	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:9057156T>C	uc002mkp.2	-	3	30494	c.30290A>G	c.(30289-30291)CAT>CGT	p.H10097R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10099	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGAAGAAGGATGAATTTTCTC	0.463												
MUC16	94025	broad.mit.edu	37	19	9067923	9067923	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:9067923G>T	uc002mkp.2	-	3	19727	c.19523C>A	c.(19522-19524)ACC>AAC	p.T6508N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6510	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAAGAGCTGGTTTTTTCCAC	0.458												
ZNF317	57693	broad.mit.edu	37	19	9270837	9270837	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:9270837C>T	uc002mku.2	+	7	791	c.516C>T	c.(514-516)TTC>TTT	p.F172F	ZNF317_uc002mkv.2_Silent_p.F31F|ZNF317_uc002mkw.2_Silent_p.F140F|ZNF317_uc002mkx.2_Silent_p.F87F|ZNF317_uc002mky.2_Silent_p.F55F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTCACTTGTTCGAAGTCTTTG	0.517												
OLFM2	93145	broad.mit.edu	37	19	9964945	9964945	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:9964945C>T	uc002mmp.2	-	6	1310	c.1282G>A	c.(1282-1284)GCC>ACC	p.A428T	OLFM2_uc002mmo.2_Missense_Mutation_p.A350T	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	428	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						GTATAGAGGGCGCGCTCCCGG	0.567												
DNM2	1785	broad.mit.edu	37	19	10908058	10908058	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:10908058C>T	uc002mps.1	+	10	1363	c.1199C>T	c.(1198-1200)ACG>ATG	p.T400M	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Missense_Mutation_p.T400M|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Missense_Mutation_p.T133M	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	400					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGACCCAGGACGGGGCTCTTC	0.527												
CARM1	10498	broad.mit.edu	37	19	11022862	11022862	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:11022862C>T	uc002mpz.2	+	5	687	c.561C>T	c.(559-561)ATC>ATT	p.I187I	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	187					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						TCCCTCAGATCGTTCTTGATG	0.577												
ZNF44	51710	broad.mit.edu	37	19	12386785	12386785	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:12386785T>G	uc010xmj.1	-	3	465	c.260A>C	c.(259-261)AAC>ACC	p.N87T	ZNF44_uc002mtl.2_RNA|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.N39T	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		ACAGTTCAGGTTCCTAATGGT	0.418												
ZNF799	90576	broad.mit.edu	37	19	12501627	12501627	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:12501627C>T	uc010dyt.2	-	4	1735	c.1585G>A	c.(1585-1587)GAG>AAG	p.E529K	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TACGGCTTCTCTCCAGAGTGA	0.398												
RTBDN	83546	broad.mit.edu	37	19	12939701	12939701	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:12939701C>T	uc002mvi.2	-	3	366	c.236G>A	c.(235-237)TGT>TAT	p.C79Y	RTBDN_uc002mvh.1_Missense_Mutation_p.C111Y|RTBDN_uc002mvj.2_Missense_Mutation_p.C111Y	NM_001080997	NP_001074466	Q9BSG5	RTBDN_HUMAN	retbindin isoform 1	79						extracellular region					0						CGGCACTCCACAGCGTTCTGG	0.592												
NANOS3	342977	broad.mit.edu	37	19	13988417	13988417	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:13988417C>T	uc002mxj.3	+	1	468	c.355C>T	c.(355-357)CGT>TGT	p.R119C		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	100	C2HC 2.|Nanos-type.				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)			CGGCGCCACACGTGAGCGCGC	0.657												
IL27RA	9466	broad.mit.edu	37	19	14163010	14163010	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:14163010G>A	uc002mxx.2	+	14	2242	c.1819G>A	c.(1819-1821)GCC>ACC	p.A607T		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	607	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						CCAGGCCACCGCCCCGCTTGA	0.667												
AKAP8L	26993	broad.mit.edu	37	19	15512127	15512127	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:15512127C>T	uc002naw.1	-	5	749	c.650G>A	c.(649-651)CGG>CAG	p.R217Q	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.R156Q|AKAP8L_uc002nay.1_Missense_Mutation_p.R217Q|AKAP8L_uc002naz.2_Missense_Mutation_p.R65Q	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	217						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						GGAGGGCAGCCGAGAGGCACC	0.692												
NWD1	284434	broad.mit.edu	37	19	16910892	16910892	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:16910892G>A	uc002neu.3	+	17	4077	c.3655G>A	c.(3655-3657)GCA>ACA	p.A1219T	NWD1_uc002net.3_Missense_Mutation_p.A1084T|NWD1_uc002nev.3_Missense_Mutation_p.A1013T			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1219	WD 10.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CGGCCTCACCGCAGTGTCCCA	0.512												
SIN3B	23309	broad.mit.edu	37	19	16989157	16989157	+	Missense_Mutation	SNP	G	G	A	rs138372644	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:16989157G>A	uc002ney.1	+	19	3228	c.3214G>A	c.(3214-3216)GAG>AAG	p.E1072K	SIN3B_uc002nez.1_Missense_Mutation_p.E1040K|SIN3B_uc010xpi.1_Missense_Mutation_p.E630K|SIN3B_uc010eaj.1_Missense_Mutation_p.E8K	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	1072					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						CGTGAACTCCGAGGACTACAT	0.662												
SLC27A1	376497	broad.mit.edu	37	19	17608192	17608192	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:17608192G>A	uc002ngu.1	+	7	1175	c.1125G>A	c.(1123-1125)ACG>ACA	p.T375T	SLC27A1_uc002ngt.1_Silent_p.T107T|SLC27A1_uc010xpp.1_Silent_p.T196T|SLC27A1_uc002ngv.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	375	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						AGGAGTTCACGGAGCGCTTCG	0.682												
GLT25D1	79709	broad.mit.edu	37	19	17679462	17679462	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:17679462C>A	uc002nhc.1	+	5	781	c.769C>A	c.(769-771)CCT>ACT	p.P257T	GLT25D1_uc010eax.1_Missense_Mutation_p.P25T	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	257					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0						CCCACCTCACCCTGACTACAC	0.607												
UNC13A	23025	broad.mit.edu	37	19	17768952	17768952	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:17768952C>T	uc002nhd.2	-	10	950	c.950G>A	c.(949-951)CGC>CAC	p.R317H		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	229					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GGGTGGTGGGCGAACAGAATA	0.572												
GDF15	9518	broad.mit.edu	37	19	18499542	18499542	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:18499542G>A	uc002niv.2	+	2	756	c.724G>A	c.(724-726)GGC>AGC	p.G242S		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	242					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1						CATGTGCATCGGCGCGTGCCC	0.687											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SFRS14	10147	broad.mit.edu	37	19	19115218	19115218	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19115218G>C	uc002nkx.2	-	7	2834	c.2688C>G	c.(2686-2688)GAC>GAG	p.D896E	SFRS14_uc002nkz.1_Missense_Mutation_p.D910E|SFRS14_uc002nla.1_Missense_Mutation_p.D896E|SFRS14_uc002nlb.2_Missense_Mutation_p.D896E|SFRS14_uc010xqk.1_Missense_Mutation_p.D665E	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	896	Asp/Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			catcgtcctcgtcctcctcct	0.567												
SLC25A42	284439	broad.mit.edu	37	19	19206971	19206971	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19206971A>G	uc002nlf.1	+	2	189	c.38A>G	c.(37-39)CAT>CGT	p.H13R	SLC25A42_uc010xqn.1_Missense_Mutation_p.H65R	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	13					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GTGCGATTGCATGAGGATGCT	0.622												
TMEM161A	54929	broad.mit.edu	37	19	19231610	19231610	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19231610G>T	uc002nlg.2	-	11	1180	c.1150C>A	c.(1150-1152)CTC>ATC	p.L384I	TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.L359I|TMEM161A_uc002nli.2_Missense_Mutation_p.L281I|TMEM161A_uc002nlj.2_Missense_Mutation_p.L259I	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A precursor	384	Helical; (Potential).				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)	2			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			TTGAGGGTGAGGATGAGCGGC	0.607												
MEF2B	100271849	broad.mit.edu	37	19	19260102	19260102	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19260102C>T	uc002nlm.2	-	3	305	c.191G>A	c.(190-192)CGT>CAT	p.R64H	MEF2B_uc002nln.2_Missense_Mutation_p.R111H|MEF2B_uc002nll.2_Missense_Mutation_p.R64H|LOC729991-MEF2B_uc010xqo.1_Missense_Mutation_p.R64H|LOC729991-MEF2B_uc010xqp.1_Missense_Mutation_p.R64H|LOC729991-MEF2B_uc002nlo.2_Missense_Mutation_p.R64H|LOC729991-MEF2B_uc002nlp.2_Missense_Mutation_p.R64H|MEF2B_uc002nlk.2_Missense_Mutation_p.R64H	NM_001145785	NP_001139257			myocyte enhancer factor 2B isoform a											skin(1)	1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CAGCAGCACACGGTCCATGTC	0.592												
NR2C2AP	126382	broad.mit.edu	37	19	19313841	19313841	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19313841G>A	uc002nlx.2	-	1	398	c.29C>T	c.(28-30)ACA>ATA	p.T10I	NR2C2AP_uc010xqq.1_5'Flank|NR2C2AP_uc002nly.2_Missense_Mutation_p.T10I	NM_176880	NP_795361	Q86WQ0	NR2CA_HUMAN	TR4 orphan receptor associated protein TRA16	10					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				ovary(1)	1			Epithelial(12;0.00235)			CCTGCTCACTGTCTCTGGACA	0.463												
NCAN	1463	broad.mit.edu	37	19	19329894	19329894	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19329894C>T	uc002nlz.2	+	3	343	c.244C>T	c.(244-246)CGG>TGG	p.R82W		NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	82	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GACCAAGGTGCGGACTGCGTC	0.652												
CILP2	148113	broad.mit.edu	37	19	19655681	19655681	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19655681G>A	uc002nmv.3	+	8	2412	c.2327G>A	c.(2326-2328)CGT>CAT	p.R776H	CILP2_uc002nmw.3_Missense_Mutation_p.R782H	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	776						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GCCAACCCCCGTGCCTGGGGC	0.711												
ZNF85	7639	broad.mit.edu	37	19	21132705	21132705	+	Missense_Mutation	SNP	C	C	T	rs140408195		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:21132705C>T	uc002npg.3	+	4	1512	c.1385C>T	c.(1384-1386)GCT>GTT	p.A462V	ZNF85_uc010ecn.2_Missense_Mutation_p.A397V|ZNF85_uc010eco.2_Missense_Mutation_p.A410V|ZNF85_uc002npi.2_Missense_Mutation_p.A403V	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	462	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						TGTGGCAAAGCTTTTAACCAG	0.338												
ZNF43	7594	broad.mit.edu	37	19	21991748	21991748	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:21991748T>C	uc002nqj.2	-	4	1221	c.1091A>G	c.(1090-1092)CAT>CGT	p.H364R	ZNF43_uc010ecv.2_Missense_Mutation_p.H358R|ZNF43_uc002nql.2_Missense_Mutation_p.H358R|ZNF43_uc002nqm.2_Missense_Mutation_p.H358R|ZNF43_uc002nqk.2_Missense_Mutation_p.H294R	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	364	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTCTGCAGTATGGATTCTCTT	0.363												
TSHZ3	57616	broad.mit.edu	37	19	31767688	31767688	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:31767688C>T	uc002nsy.3	-	2	3076	c.3011G>A	c.(3010-3012)CGG>CAG	p.R1004Q		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	1004					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					GGATAAGTCCCGTAGCCGGAA	0.507												
PEPD	5184	broad.mit.edu	37	19	33984235	33984235	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:33984235G>A	uc002nur.3	-	5	537	c.402C>T	c.(400-402)AGC>AGT	p.S134S	PEPD_uc010xrr.1_Silent_p.S134S|PEPD_uc010xrs.1_Silent_p.S70S	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	134					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			ovary(2)	2	Esophageal squamous(110;0.137)					ACGTCAGGACGCTGGCAATCT	0.522												
KIAA0355	9710	broad.mit.edu	37	19	34833300	34833300	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:34833300C>T	uc002nvd.3	+	10	3320	c.2461C>T	c.(2461-2463)CGT>TGT	p.R821C		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	821										ovary(1)	1	Esophageal squamous(110;0.162)					CTGGCCCAACCGTGACCAAAG	0.522												
UBA2	10054	broad.mit.edu	37	19	34942896	34942896	+	Silent	SNP	G	G	A	rs146405147	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:34942896G>A	uc002nvk.2	+	10	952	c.882G>A	c.(880-882)ACG>ACA	p.T294T	UBA2_uc010xrx.1_Silent_p.T167T|UBA2_uc002nvl.2_Silent_p.T198T	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	294					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAGAAGAAACGAATGCATCAG	0.368												
FFAR2	2867	broad.mit.edu	37	19	35940790	35940790	+	Silent	SNP	G	G	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:35940790G>C	uc002nzg.2	+	2	254	c.174G>C	c.(172-174)CTG>CTC	p.L58L	FFAR2_uc010eea.2_Silent_p.L58L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	58	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTCCTCCTGCTGCTGCTGC	0.647												
ARHGAP33	115703	broad.mit.edu	37	19	36271872	36271872	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:36271872C>T	uc002obr.1	+	11	965	c.880C>T	c.(880-882)CGC>TGC	p.R294C	ARHGAP33_uc002obs.1_Missense_Mutation_p.R294C|ARHGAP33_uc002obt.1_Missense_Mutation_p.R158C|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	294					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CACCTTCATGCGCTCCCGCCC	0.667												
NPHS1	4868	broad.mit.edu	37	19	36340038	36340038	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:36340038C>T	uc002oby.2	-	8	852	c.852G>A	c.(850-852)CCG>CCA	p.P284P		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	284	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTGGACACCGGCTGGCCAT	0.677												
ZFP30	22835	broad.mit.edu	37	19	38126847	38126847	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:38126847C>T	uc002ogv.1	-	6	1111	c.595G>A	c.(595-597)GCC>ACC	p.A199T	ZFP30_uc002ogw.1_Missense_Mutation_p.A199T|ZFP30_uc002ogx.1_Missense_Mutation_p.A199T|ZFP30_uc010xtt.1_Missense_Mutation_p.A198T	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	199	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGAGGTGGGCACACTGTCTA	0.393												
SIPA1L3	23094	broad.mit.edu	37	19	38610116	38610116	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:38610116G>A	uc002ohk.2	+	9	2971	c.2462G>A	c.(2461-2463)CGC>CAC	p.R821H		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	821	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCAGGACCCGCCAGGAGTAT	0.552												
GGN	199720	broad.mit.edu	37	19	38877383	38877383	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:38877383C>T	uc002oij.1	-	3	654	c.519G>A	c.(517-519)CCG>CCA	p.P173P	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.P90P	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	173	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATGGTGGTGGCGGCTTCCAAG	0.687												
MAP4K1	11184	broad.mit.edu	37	19	39104547	39104547	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:39104547C>T	uc002oix.1	-	8	614	c.506G>A	c.(505-507)CGC>CAC	p.R169H	MAP4K1_uc002oiy.1_Missense_Mutation_p.R169H|MAP4K1_uc010xug.1_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	169	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAAAGAGAGGCGTCTGGCCAG	0.622												
NFKBIB	4793	broad.mit.edu	37	19	39398124	39398124	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:39398124C>T	uc002ojw.2	+	5	852	c.794C>T	c.(793-795)GCG>GTG	p.A265V	NFKBIB_uc002ojx.2_Missense_Mutation_p.A233V|NFKBIB_uc002ojy.2_Missense_Mutation_p.A265V	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	265	ANK 5.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGGGCAGGCGCGAACCCTGCT	0.706												
PAK4	10298	broad.mit.edu	37	19	39667343	39667343	+	Silent	SNP	C	C	A	rs138564503		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:39667343C>A	uc002okj.1	+	9	1934	c.1473C>A	c.(1471-1473)CCC>CCA	p.P491P	PAK4_uc002okl.1_Silent_p.P491P|PAK4_uc002okn.1_Silent_p.P491P|PAK4_uc002okm.1_Silent_p.P338P|PAK4_uc002oko.1_Silent_p.P338P|PAK4_uc002okp.1_Silent_p.P401P	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	491	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCCGCCTTCCCTACGGGCCAG	0.667												
FBL	2091	broad.mit.edu	37	19	40328360	40328360	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:40328360T>C	uc002omn.2	-	6	787	c.673A>G	c.(673-675)ATG>GTG	p.M225V	FBL_uc002omm.1_Missense_Mutation_p.M139V|FBL_uc002omo.2_Missense_Mutation_p.M224V	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	225					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CCGATGAGCATGCGGTATTTG	0.582												
PLD3	23646	broad.mit.edu	37	19	40882619	40882619	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:40882619C>T	uc002onm.3	+	11	1521	c.1123C>T	c.(1123-1125)CGG>TGG	p.R375W	PLD3_uc002onj.3_Missense_Mutation_p.R375W|PLD3_uc002onk.3_Missense_Mutation_p.R375W|PLD3_uc002onl.3_Missense_Mutation_p.R375W|PLD3_uc002onn.2_Missense_Mutation_p.R375W	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	375	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCATCCATGCGGGCCTTCCT	0.647												
SERTAD3	29946	broad.mit.edu	37	19	40947898	40947898	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:40947898C>A	uc002onu.3	-	2	368	c.90G>T	c.(88-90)CAG>CAT	p.Q30H	SERTAD3_uc002onv.3_Missense_Mutation_p.Q30H	NM_013368	NP_037500	Q9UJW9	SRTD3_HUMAN	RPA-binding trans-activator	30	SERTA.				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGGGCTTGCTGGTAGCTCT	0.597												
SPTBN4	57731	broad.mit.edu	37	19	41008724	41008724	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:41008724G>A	uc002ony.2	+	11	1332	c.1246G>A	c.(1246-1248)GCC>ACC	p.A416T	SPTBN4_uc002onx.2_Missense_Mutation_p.A416T|SPTBN4_uc002onz.2_Missense_Mutation_p.A416T	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	416	Spectrin 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGGGAGGCTGCCCTACGGGC	0.577												
CYP2B6	1555	broad.mit.edu	37	19	41510273	41510273	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:41510273G>A	uc002opr.1	+	3	413	c.406G>A	c.(406-408)GGG>AGG	p.G136R	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.G96R	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	136					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)	GAGGGACTTCGGGATGGGAAA	0.562												
CYP2B6	1555	broad.mit.edu	37	19	41522636	41522636	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:41522636C>T	uc002opr.1	+	9	1387	c.1380C>T	c.(1378-1380)GCC>GCT	p.A460A	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Silent_p.A260A	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	460					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)	TCTCCATGGCCAGCCCCGTGG	0.577												
CEACAM3	1084	broad.mit.edu	37	19	42301880	42301880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:42301880C>T	uc002orn.1	+	2	500	c.424C>T	c.(424-426)CAA>TAA	p.Q142*	CEACAM3_uc010eia.1_Nonsense_Mutation_p.Q142*|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	142	Ig-like V-type.|Extracellular (Potential).					integral to membrane				skin(1)	1						CCATGTATACCGTGAGTATTT	0.478												
PRR19	284338	broad.mit.edu	37	19	42813800	42813800	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:42813800C>T	uc002oti.2	+	2	442	c.64C>T	c.(64-66)CGT>TGT	p.R22C	PRR19_uc002oth.1_Missense_Mutation_p.R22C|PRR19_uc002otj.2_Missense_Mutation_p.R22C	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	proline rich 19	22											0		Prostate(69;0.00682)				TCGTGTCCGTCGTCGGAAGAC	0.592												
PSG7	5676	broad.mit.edu	37	19	43430100	43430100	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:43430100C>T	uc002ovl.3	-	6	1170	c.1068G>A	c.(1066-1068)GCG>GCA	p.A356A	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Silent_p.A269A|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Silent_p.A82A|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.A269A|PSG7_uc010xwl.1_Silent_p.A234A	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	356	Ig-like C2-type 3.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				GGTTAGAGTCCGCAAAGCAGG	0.448												
PSG7	5676	broad.mit.edu	37	19	43441204	43441204	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:43441204A>G	uc002ovl.3	-	1	127	c.25T>C	c.(25-27)TGC>CGC	p.C9R	PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.C9R	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	9					female pregnancy	extracellular region					0		Prostate(69;0.00682)				TGCTGTGTGCAGGGAGGGGCT	0.577												
PVRL2	5819	broad.mit.edu	37	19	45385573	45385573	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:45385573G>A	uc002ozw.1	+	6	1538	c.1148G>A	c.(1147-1149)CGG>CAG	p.R383Q		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	383	Cytoplasmic (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTTATCTGCCGGCAGCAGCGG	0.642												
VASP	7408	broad.mit.edu	37	19	46027364	46027364	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:46027364G>A	uc002pcg.2	+	10	1262	c.920G>A	c.(919-921)CGG>CAG	p.R307Q	VASP_uc010eki.2_Missense_Mutation_p.R141Q|VASP_uc002pci.2_Missense_Mutation_p.R293Q	NM_003370	NP_003361	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	307	EVH2.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GAATCTGTGCGGAGACCCTGG	0.413											OREG0025556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
VASP	7408	broad.mit.edu	37	19	46027366	46027366	+	Silent	SNP	A	A	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:46027366A>C	uc002pcg.2	+	10	1264	c.922A>C	c.(922-924)AGA>CGA	p.R308R	VASP_uc010eki.2_Silent_p.R142R|VASP_uc002pci.2_Silent_p.R294R	NM_003370	NP_003361	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	308	EVH2.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		ATCTGTGCGGAGACCCTGGGA	0.413											OREG0025556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FBXO46	23403	broad.mit.edu	37	19	46216376	46216376	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:46216376G>A	uc002pcy.2	-	2	503	c.378C>T	c.(376-378)AGC>AGT	p.S126S	FBXO46_uc002pcz.2_Silent_p.S126S	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	126							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TGGAGCTATCGCTGCCCCAGT	0.682												
DMWD	1762	broad.mit.edu	37	19	46289337	46289337	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:46289337C>T	uc002pdj.1	-	3	1463	c.1417G>A	c.(1417-1419)GCC>ACC	p.A473T	DMWD_uc002pdk.1_Missense_Mutation_p.A473T|DMWD_uc010eko.1_Missense_Mutation_p.A158T	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	473					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)		GAGCTGCTGGCGGCCGGTGGC	0.741												
PPP5C	5536	broad.mit.edu	37	19	46857176	46857176	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:46857176G>A	uc002pem.2	+	2	353	c.293G>A	c.(292-294)GGT>GAT	p.G98D	PPP5C_uc010xya.1_Intron|PPP5C_uc002pen.2_Missense_Mutation_p.G98D	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	98	TPR 3.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TACATCAAGGGTTATTACCGC	0.642												
SLC1A5	6510	broad.mit.edu	37	19	47282088	47282088	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:47282088C>T	uc002pfs.2	-	5	1522	c.902G>A	c.(901-903)CGC>CAC	p.R301H	SLC1A5_uc010xyh.1_Missense_Mutation_p.R99H|SLC1A5_uc002pfq.2_Missense_Mutation_p.R125H|SLC1A5_uc002pfr.2_Missense_Mutation_p.R73H	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	301					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTTGCCAAGGCGGGCAAAGAG	0.562												
SLC8A2	6543	broad.mit.edu	37	19	47935695	47935695	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:47935695C>G	uc002pgx.2	-	9	2396	c.2118G>C	c.(2116-2118)GAG>GAC	p.E706D	SLC8A2_uc010xyq.1_Missense_Mutation_p.E462D|SLC8A2_uc010xyr.1_Missense_Mutation_p.E169D|SLC8A2_uc010ele.2_Missense_Mutation_p.E706D	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	706	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTCCTCCTCCTCGTCCCCTG	0.602												
CGB2	114336	broad.mit.edu	37	19	49535283	49535283	+	Translation_Start_Site	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:49535283C>T	uc002plw.2	+	1	154	c.-69C>T	c.(-71--67)CACGG>CATGG		CGB_uc010yad.1_Intron|SNAR-G2_uc010yae.1_5'Flank|CGB2_uc010yaf.1_Translation_Start_Site|CGB2_uc010yag.1_5'Flank	NM_033378	NP_203696			chorionic gonadotropin, beta polypeptide 2												0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACTCCCCCACGGAGACTCAA	0.557												
SLC17A7	57030	broad.mit.edu	37	19	49934362	49934362	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:49934362G>A	uc002pnp.2	-	11	1471	c.1299C>T	c.(1297-1299)TAC>TAT	p.Y433Y	SLC17A7_uc002pno.2_Silent_p.Y95Y	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	433	Cytoplasmic (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGATGCTGGCGTAGCGCGGGG	0.617												
PRR12	57479	broad.mit.edu	37	19	50098867	50098867	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:50098867C>T	uc002poo.3	+	4	1275	c.1275C>T	c.(1273-1275)GCC>GCT	p.A425A		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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)		GGCCAGCAGCCGCCTATGCCA	0.701												
PRR12	57479	broad.mit.edu	37	19	50099458	50099458	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:50099458G>A	uc002poo.3	+	4	1866	c.1866G>A	c.(1864-1866)TCG>TCA	p.S622S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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)		GGGATGGCTCGGAGCTGCTGG	0.667												
MYH14	79784	broad.mit.edu	37	19	50796825	50796825	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:50796825G>T	uc002prr.1	+	37	5274	c.5227G>T	c.(5227-5229)GCC>TCC	p.A1743S	MYH14_uc010enu.1_Missense_Mutation_p.A1784S|MYH14_uc002prq.1_Missense_Mutation_p.A1751S|MYH14_uc010ycb.1_Missense_Mutation_p.A94S|MYH14_uc002prs.1_Missense_Mutation_p.A94S	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1743	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCCTAGGGCAGCCATTCTGGA	0.612												
MYBPC2	4606	broad.mit.edu	37	19	50961966	50961966	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:50961966G>A	uc002psf.2	+	21	2512	c.2461G>A	c.(2461-2463)GAG>AAG	p.E821K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	821	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGGGCGCAGCGAGCCGGCCAC	0.677												
SHANK1	50944	broad.mit.edu	37	19	51220126	51220126	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:51220126G>A	uc002psx.1	-	1	70	c.51C>T	c.(49-51)AGC>AGT	p.S17S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	17					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGGACACTCGCTGGCACTGT	0.736												
KLK15	55554	broad.mit.edu	37	19	51330304	51330304	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:51330304C>T	uc002ptl.2	-	3	342	c.311G>A	c.(310-312)CGC>CAC	p.R104H	KLK15_uc002ptm.2_Missense_Mutation_p.R104H|KLK15_uc002ptn.2_Missense_Mutation_p.R104H|KLK15_uc002pto.2_Missense_Mutation_p.R103H|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Missense_Mutation_p.R103H|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	104	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GATGTCGTTGCGGTGGCTGCG	0.697												
LENG1	79165	broad.mit.edu	37	19	54662136	54662136	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:54662136C>T	uc002qdm.2	-	2	209	c.196G>A	c.(196-198)GCA>ACA	p.A66T		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	66										ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCGCCTCTGCTGCTTCAAGC	0.537												
LILRA6	79168	broad.mit.edu	37	19	54742915	54742915	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:54742915C>T	uc002qeu.1	-	8	1484	c.1360G>A	c.(1360-1362)GCA>ACA	p.A454T	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.A298T	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	454	Helical; (Potential).					integral to membrane	receptor activity			skin(2)	2	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACCAAGCCTGCCATGCCCATG	0.572												
NLRP7	199713	broad.mit.edu	37	19	55450647	55450647	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:55450647C>T	uc002qih.3	-	4	1616	c.1540G>A	c.(1540-1542)GAC>AAC	p.D514N	NLRP7_uc002qig.3_Missense_Mutation_p.D514N|NLRP7_uc002qii.3_Missense_Mutation_p.D514N|NLRP7_uc010esk.2_Missense_Mutation_p.D514N|NLRP7_uc010esl.2_Missense_Mutation_p.D542N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	514							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		TGAATCAGGTCGGGGTTCTTG	0.577												
NLRP2	55655	broad.mit.edu	37	19	55494233	55494233	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:55494233G>A	uc002qij.2	+	6	1253	c.1167G>A	c.(1165-1167)GCG>GCA	p.A389A	NLRP2_uc010yfp.1_Silent_p.A366A|NLRP2_uc010esn.2_Silent_p.A365A|NLRP2_uc010eso.2_Silent_p.A386A|NLRP2_uc010esp.2_Silent_p.A367A	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	389	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGAGCAACGCGGCCCTGTTCC	0.632												
ZNF628	89887	broad.mit.edu	37	19	55994334	55994334	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:55994334C>T	uc002qld.2	+	3	2327	c.1762C>T	c.(1762-1764)CGG>TGG	p.R588W	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	588						nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CACGGGCGAGCGGCCCTTCCG	0.711												
NLRP9	338321	broad.mit.edu	37	19	56226424	56226424	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:56226424A>C	uc002qly.2	-	6	2526	c.2498T>G	c.(2497-2499)CTG>CGG	p.L833R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	833	LRR 4.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTCCTACCACAGCTCCCGTAT	0.483												
NLRP11	204801	broad.mit.edu	37	19	56307593	56307593	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:56307593G>A	uc010ygf.1	-	8	2906	c.2195C>T	c.(2194-2196)GCC>GTC	p.A732V	NLRP11_uc002qlz.2_Missense_Mutation_p.A579V|NLRP11_uc002qmb.2_Missense_Mutation_p.A633V|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	732							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)		ACATTCGCTGGCTCGCAAATC	0.433												
ZNF71	58491	broad.mit.edu	37	19	57133494	57133494	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:57133494G>A	uc002qnm.3	+	3	1077	c.839G>A	c.(838-840)AGC>AAC	p.S280N		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	280	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGAGCCTTCAGCCAGAACATG	0.652												
ZSCAN22	342945	broad.mit.edu	37	19	58850459	58850459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:58850459C>T	uc002qsc.2	+	3	1390	c.1243C>T	c.(1243-1245)CGA>TGA	p.R415*	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	415	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		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;0.0289)		CGCGTGTGGCCGAGCCTTCAG	0.577												
ZNF324	25799	broad.mit.edu	37	19	58982534	58982534	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:58982534T>C	uc002qsw.1	+	4	769	c.675T>C	c.(673-675)GGT>GGC	p.G225G	ZNF324_uc002qsx.1_Silent_p.G2G	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACCGAATGGGTGCAGTTTGGC	0.642												
ZNF324	25799	broad.mit.edu	37	19	58982539	58982539	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:58982539T>C	uc002qsw.1	+	4	774	c.680T>C	c.(679-681)GTT>GCT	p.V227A	ZNF324_uc002qsx.1_Missense_Mutation_p.V4A	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ATGGGTGCAGTTTGGCAGGAG	0.647												
ZNF446	55663	broad.mit.edu	37	19	58988598	58988598	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:58988598C>T	uc002qsz.2	+	2	130	c.13C>T	c.(13-15)CTG>TTG	p.L5L	ZNF446_uc002qta.2_Silent_p.L5L|ZNF446_uc010eur.2_Silent_p.L5L	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	5					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCCATCCCCTCTGGGTCCCCC	0.607												
MZF1	7593	broad.mit.edu	37	19	59073494	59073494	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:59073494C>T	uc002qto.2	-	6	2711	c.2150G>A	c.(2149-2151)CGC>CAC	p.R717H	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.R717H	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	717	C2H2-type 13.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CTGGTGGAAGCGGCGGCCACA	0.622												
PXDN	7837	broad.mit.edu	37	2	1652681	1652681	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:1652681C>T	uc002qxa.2	-	17	2935	c.2871G>A	c.(2869-2871)ACG>ACA	p.T957T		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	957					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)		GCATGCACTCCGTGGGCGGCC	0.726												
ATP6V1C2	245973	broad.mit.edu	37	2	10863007	10863007	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:10863007G>T	uc002ras.2	+	2	141	c.32G>T	c.(31-33)GGC>GTC	p.G11V	ATP6V1C2_uc002rat.2_Missense_Mutation_p.G11V	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	11					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCTGCCCCTGGCGATAAGGAA	0.438												
ROCK2	9475	broad.mit.edu	37	2	11356319	11356319	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:11356319G>A	uc002rbd.1	-	13	1875	c.1426C>T	c.(1426-1428)CGC>TGC	p.R476C		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	476	REM.|Potential.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTTCTAGGCGAGTATTAACA	0.274												
GREB1	9687	broad.mit.edu	37	2	11777862	11777862	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:11777862G>A	uc002rbk.1	+	31	5667	c.5367G>A	c.(5365-5367)GCG>GCA	p.A1789A	GREB1_uc002rbp.1_Silent_p.A787A	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1789						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)		ACTCTGCCGCGGTCGTGCCGG	0.667												
NBAS	51594	broad.mit.edu	37	2	15534361	15534361	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:15534361T>C	uc002rcc.1	-	28	3273	c.3247A>G	c.(3247-3249)ACT>GCT	p.T1083A	NBAS_uc010exl.1_Missense_Mutation_p.T155A|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1083										ovary(2)|liver(1)|skin(1)	4						TTCCGGCCAGTGTGCCTCGTC	0.299												
NBAS	51594	broad.mit.edu	37	2	15676570	15676570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:15676570G>A	uc002rcc.1	-	8	645	c.619C>T	c.(619-621)CGA>TGA	p.R207*	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	207										ovary(2)|liver(1)|skin(1)	4						AGTTCTCCTCGGTAATTGATG	0.343												
ADCY3	109	broad.mit.edu	37	2	25047345	25047345	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:25047345G>A	uc002rfs.3	-	16	2837	c.2638C>T	c.(2638-2640)CGT>TGT	p.R880C	ADCY3_uc002rfr.3_Missense_Mutation_p.R467C|ADCY3_uc010ykm.1_Missense_Mutation_p.R881C	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	880	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 glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATAGACACGTTCCTTCTGG	0.532												
DNMT3A	1788	broad.mit.edu	37	2	25523110	25523110	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:25523110G>A	uc002rgc.2	-	3	332	c.75C>T	c.(73-75)GAC>GAT	p.D25D	DNMT3A_uc002rgd.2_Silent_p.D25D|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_Silent_p.D22D|DNMT3A_uc002rgf.2_Silent_p.D25D	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	25					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCCTCTCCGTCCTGCAGGC	0.687			Mis|F|N|S		AML							
EMILIN1	11117	broad.mit.edu	37	2	27306221	27306221	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:27306221C>T	uc002rii.3	+	4	2210	c.1782C>T	c.(1780-1782)CGC>CGT	p.R594R	EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	594	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTAGGCCGCCTTCGGGATG	0.701												
IFT172	26160	broad.mit.edu	37	2	27700448	27700448	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:27700448T>C	uc002rku.2	-	12	1250	c.1199A>G	c.(1198-1200)AAG>AGG	p.K400R	IFT172_uc002rkw.2_Missense_Mutation_p.K400R|IFT172_uc010yls.1_Missense_Mutation_p.K379R|IFT172_uc010ezc.2_Missense_Mutation_p.K400R|IFT172_uc002rkv.2_Missense_Mutation_p.K374R	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	400					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					AAAGAAATACTTCTCATTGCC	0.403												
CCDC121	79635	broad.mit.edu	37	2	27850362	27850362	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:27850362C>T	uc002rle.2	-	2	486	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.R266Q|CCDC121_uc002rld.2_Missense_Mutation_p.R264Q|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121 isoform 3	102											0	Acute lymphoblastic leukemia(172;0.155)					CTGCAACTTCCGCTTCAAACT	0.408												
GPN1	11321	broad.mit.edu	37	2	27852006	27852006	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:27852006G>T	uc010ymc.1	+	1	144	c.123G>T	c.(121-123)ATG>ATT	p.M41I	ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_5'Flank|CCDC121_uc002rld.2_5'Flank|CCDC121_uc002rle.2_5'Flank|GPN1_uc010ezf.2_Intron|GPN1_uc010yma.1_Intron|GPN1_uc010ymb.1_Intron|GPN1_uc010ymd.1_5'UTR|GPN1_uc010yme.1_Missense_Mutation_p.M41I|GPN1_uc010ezg.1_5'Flank	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1 isoform a	27	GTP (Pootential).					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding				0						TGTTGGGAATGGCGGGATCCG	0.632												
PLB1	151056	broad.mit.edu	37	2	28739709	28739709	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:28739709T>C	uc002rmb.1	+	2	90	c.90T>C	c.(88-90)AGT>AGC	p.S30S	PLB1_uc010ezj.1_Silent_p.S30S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	30	Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTAGAAAGAGTACATTGGAAG	0.478												
XDH	7498	broad.mit.edu	37	2	31588866	31588866	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:31588866G>A	uc002rnv.1	-	22	2511	c.2432C>T	c.(2431-2433)ACG>ATG	p.T811M		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	811					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGCCACTGCCGTGGACACCAC	0.537												
BIRC6	57448	broad.mit.edu	37	2	32740783	32740783	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:32740783G>A	uc010ezu.2	+	55	11429	c.11295G>A	c.(11293-11295)GCG>GCA	p.A3765A		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3765					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAACTGTTGCGTTCTTTCTAC	0.393												
HNRPLL	92906	broad.mit.edu	37	2	38800365	38800365	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:38800365C>T	uc002rqw.2	-	8	1489	c.1079G>A	c.(1078-1080)GGA>GAA	p.G360E	HNRPLL_uc002rqv.2_Missense_Mutation_p.G55E|HNRPLL_uc002rqx.2_Missense_Mutation_p.G355E	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	360	RRM 3.				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			skin(1)	1		all_hematologic(82;0.248)				CTCAATATTTCCATATAAGCA	0.353												
SLC8A1	6546	broad.mit.edu	37	2	40366803	40366803	+	Silent	SNP	G	G	A	rs139842575		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:40366803G>A	uc002rrx.2	-	9	2307	c.2283C>T	c.(2281-2283)GAC>GAT	p.D761D	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.D756D|SLC8A1_uc002rrz.2_Silent_p.D748D|SLC8A1_uc002rsa.2_Silent_p.D725D|SLC8A1_uc002rsd.3_Silent_p.D725D	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	761	Cytoplasmic (Potential).|Poly-Asp.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATTCATCGTCGTCATCATCTT	0.502												
TTC7A	57217	broad.mit.edu	37	2	47220638	47220638	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:47220638G>A	uc002rvo.2	+	6	1182	c.814G>A	c.(814-816)GAG>AAG	p.E272K	TTC7A_uc002rvm.2_Missense_Mutation_p.E238K|TTC7A_uc002rvn.1_Missense_Mutation_p.E153K|TTC7A_uc010fbb.2_Missense_Mutation_p.E272K|TTC7A_uc010fbc.2_5'UTR|TTC7A_uc002rvp.2_Missense_Mutation_p.E153K|TTC7A_uc002rvq.2_Missense_Mutation_p.E12K|TTC7A_uc002rvr.2_5'Flank	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	272							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)			GCGGACTGTGGAGACCAAAGC	0.532												
SPTBN1	6711	broad.mit.edu	37	2	54853348	54853348	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:54853348A>G	uc002rxu.2	+	12	1870	c.1621A>G	c.(1621-1623)ATG>GTG	p.M541V	SPTBN1_uc002rxv.1_Missense_Mutation_p.M541V|SPTBN1_uc002rxx.2_Missense_Mutation_p.M528V	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	541	Spectrin 3.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GCTCTACATTATGGACTGGAT	0.512												
ALMS1	7840	broad.mit.edu	37	2	73650099	73650099	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:73650099T>C	uc002sje.1	+	5	875	c.764T>C	c.(763-765)CTG>CCG	p.L255P	ALMS1_uc002sjf.1_Missense_Mutation_p.L212P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	254					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TTTGCACCTCTGAGGTAGGAT	0.393												
SLC4A5	57835	broad.mit.edu	37	2	74460640	74460640	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:74460640C>T	uc002sko.1	-	18	2486	c.2484G>A	c.(2482-2484)CCG>CCA	p.P828P	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.P828P|SLC4A5_uc010ffc.1_Silent_p.P828P|SLC4A5_uc002skp.1_Silent_p.P726P|SLC4A5_uc002sks.1_Silent_p.P790P	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	828	Helical; (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						ATACCCACCACGGGTTCTTCC	0.607												
AUP1	550	broad.mit.edu	37	2	74755023	74755023	+	Translation_Start_Site	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:74755023C>A	uc002sme.2	-	1	277	c.-120G>T	c.(-122--118)TAGGA>TATGA		DQX1_uc010yrw.1_5'Flank|AUP1_uc002smf.2_Intron|AUP1_uc002smg.2_Intron|AUP1_uc002smh.2_Intron|AUP1_uc010yrx.1_Intron|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens AUP1 homolog mRNA, complete cds.							endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						CCCTCTCCTCCTAAGCAGGGA	0.572												
TCF7L1	83439	broad.mit.edu	37	2	85536360	85536360	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:85536360G>T	uc002soy.2	+	12	1616	c.1542G>T	c.(1540-1542)CAG>CAT	p.Q514H		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	514					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)|central_nervous_system(1)	3						CCCGGGCCCAGCTGGCTCTCC	0.687												
EIF2AK3	9451	broad.mit.edu	37	2	88876178	88876178	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:88876178C>T	uc002stc.3	-	12	2132	c.1930G>A	c.(1930-1932)GCC>ACC	p.A644T		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	644	Cytoplasmic (Potential).|Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TCAAGCTTGGCTAAGGCTTTA	0.338												
DUSP2	1844	broad.mit.edu	37	2	96809731	96809731	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:96809731G>A	uc002svk.3	-	4	862	c.776C>T	c.(775-777)GCG>GTG	p.A259V		NM_004418	NP_004409	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	259	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			breast(1)	1		Ovarian(717;0.0228)				CGAGATACCCGCCTGGCAGTG	0.632												
SNRNP200	23020	broad.mit.edu	37	2	96945252	96945252	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:96945252G>A	uc002svu.2	-	36	5156	c.5070C>T	c.(5068-5070)CAC>CAT	p.H1690H	SNRNP200_uc002svt.2_Silent_p.H300H|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1690	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						GGCGGTTGGCGTGGCCCACCA	0.552												
VWA3B	200403	broad.mit.edu	37	2	98928382	98928382	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:98928382A>G	uc002syo.2	+	27	3886	c.3622A>G	c.(3622-3624)AAA>GAA	p.K1208E	VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.K865E|VWA3B_uc002syp.1_Missense_Mutation_p.K600E|VWA3B_uc002syq.1_Missense_Mutation_p.K484E|VWA3B_uc002syr.1_Missense_Mutation_p.K525E|VWA3B_uc002sys.2_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1208										ovary(3)|large_intestine(2)|skin(1)	6						GCCCAGGAGGAAAAAGAGGCC	0.627												
CNGA3	1261	broad.mit.edu	37	2	98994192	98994192	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:98994192G>A	uc002syt.2	+	3	561	c.144G>A	c.(142-144)CCG>CCA	p.P48P	CNGA3_uc002syu.2_Silent_p.P48P|CNGA3_uc010fij.2_5'UTR	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	48			P -> L.		signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						TGCTGCAGCCGGGGATCGCCA	0.582												
GPR45	11250	broad.mit.edu	37	2	105858894	105858894	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:105858894C>T	uc002tco.1	+	1	695	c.579C>T	c.(577-579)CGC>CGT	p.R193R		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	193	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						CCGCTGACCGCGCCTACGTGG	0.687												
RANBP2	5903	broad.mit.edu	37	2	109382397	109382397	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:109382397G>A	uc002tem.3	+	20	5528	c.5402G>A	c.(5401-5403)TGT>TAT	p.C1801Y		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1801	RanBP2-type 8.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TCCTTAAAATGTGTGGCTTGT	0.428												
PSD4	23550	broad.mit.edu	37	2	113943688	113943688	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:113943688C>T	uc002tjc.2	+	5	1667	c.1484C>T	c.(1483-1485)ACG>ATG	p.T495M	PSD4_uc002tjd.2_Missense_Mutation_p.T116M|PSD4_uc002tje.2_Missense_Mutation_p.T466M|PSD4_uc002tjf.2_Missense_Mutation_p.T116M	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	495					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CTCTTGGAGACGGATGGGGAA	0.562												
PAX8	7849	broad.mit.edu	37	2	114002038	114002038	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:114002038T>C	uc010yxt.1	-	4	521	c.355A>G	c.(355-357)AAT>GAT	p.N119D	PAX8_uc010yxu.1_Missense_Mutation_p.N119D|PAX8_uc010yxv.1_Missense_Mutation_p.N119D|PAX8_uc002tjm.2_Missense_Mutation_p.N119D|PAX8_uc002tjn.2_Missense_Mutation_p.N119D|PAX8_uc010fku.1_Missense_Mutation_p.N119D|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	paired box 8 isoform PAX8A	119	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity			ovary(1)|lung(1)	2						ACAGTGTCATTGTCACAGACG	0.567			T	PPARG	follicular thyroid		Thyroid dysgenesis 					
STEAP3	55240	broad.mit.edu	37	2	120020712	120020712	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:120020712G>A	uc002tlp.2	+	6	1422	c.1265G>A	c.(1264-1266)AGC>AAC	p.S422N	STEAP3_uc002tlq.2_Missense_Mutation_p.S432N|STEAP3_uc002tlr.2_Missense_Mutation_p.S422N|STEAP3_uc010fle.2_3'UTR	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	422	Vesicular (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						TTCGAGGAGAGCCGCTACAAG	0.617												
INHBB	3625	broad.mit.edu	37	2	121104166	121104166	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:121104166C>T	uc002tmn.2	+	1	448	c.402C>T	c.(400-402)GCC>GCT	p.A134A		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	134					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				GCCCGGGCGCCGACGGCCAGG	0.741												
INHBB	3625	broad.mit.edu	37	2	121107004	121107004	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:121107004G>A	uc002tmn.2	+	2	824	c.778G>A	c.(778-780)GTG>ATG	p.V260M		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	260					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				GGAGCTGGCCGTGGTGCCGGT	0.662												
GLI2	2736	broad.mit.edu	37	2	121742146	121742146	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:121742146G>A	uc010flp.2	+	11	1813	c.1783G>A	c.(1783-1785)GTC>ATC	p.V595I	GLI2_uc002tmq.1_Missense_Mutation_p.V267I|GLI2_uc002tmr.1_Missense_Mutation_p.V250I|GLI2_uc002tmt.3_Missense_Mutation_p.V267I|GLI2_uc002tmu.3_Missense_Mutation_p.V250I|GLI2_uc002tmw.1_Missense_Mutation_p.V578I	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	595					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				AGATGCCCACGTCACCAAGAA	0.607												
CCDC74B	91409	broad.mit.edu	37	2	130899770	130899770	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:130899770C>T	uc002tqm.1	-	3	542	c.480G>A	c.(478-480)GTG>GTA	p.V160V	CCDC74B_uc010yzw.1_Silent_p.V262V|CCDC74B_uc002tqn.1_Intron|CCDC74B_uc010yzx.1_3'UTR	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	160											0	Colorectal(110;0.1)					CAGGAGAGCGCACAGTGTCGG	0.632												
FAM123C	205147	broad.mit.edu	37	2	131520215	131520215	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:131520215G>A	uc002trw.2	+	2	760	c.570G>A	c.(568-570)CCG>CCA	p.P190P	FAM123C_uc010fmv.2_Silent_p.P190P|FAM123C_uc010fms.1_Silent_p.P190P|FAM123C_uc010fmt.1_Silent_p.P190P|FAM123C_uc010fmu.1_Silent_p.P190P	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	190										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CAGGGGACCCGTCAGACCCTG	0.662												
ARHGEF4	50649	broad.mit.edu	37	2	131803619	131803619	+	Missense_Mutation	SNP	C	C	T	rs146423704	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:131803619C>T	uc002tsa.1	+	14	2450	c.1930C>T	c.(1930-1932)CGG>TGG	p.R644W	ARHGEF4_uc010fmw.1_Missense_Mutation_p.R792W|ARHGEF4_uc002tsb.1_3'UTR|ARHGEF4_uc010fmx.1_Missense_Mutation_p.R584W|ARHGEF4_uc002tsc.1_Missense_Mutation_p.R187W	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	644					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGCTGTTGGCCGGCCCTGCTA	0.687												
CCDC74A	90557	broad.mit.edu	37	2	132288336	132288336	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:132288336G>A	uc002tta.2	+	3	532	c.480G>A	c.(478-480)GTG>GTA	p.V160V	CCDC74A_uc002ttb.2_Intron	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	160										skin(1)	1						CCGACACTGTGCGCTCTCCTG	0.632												
LCT	3938	broad.mit.edu	37	2	136561666	136561666	+	Silent	SNP	C	C	A	rs150796821		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:136561666C>A	uc002tuu.1	-	11	4508	c.4497G>T	c.(4495-4497)ACG>ACT	p.T1499T		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1499	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATCTTGGAGCGTCTGTGGTA	0.517												
LRP1B	53353	broad.mit.edu	37	2	141208157	141208157	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:141208157G>A	uc002tvj.1	-	63	11009	c.10037C>T	c.(10036-10038)TCT>TTT	p.S3346F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3346	Extracellular (Potential).|LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGTTCATCAGATCCATCACC	0.348										TSP Lung(27;0.18)		
STAM2	10254	broad.mit.edu	37	2	152980308	152980308	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:152980308C>T	uc002tyc.3	-	13	1671	c.1321G>A	c.(1321-1323)GCA>ACA	p.A441T		NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	441					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		GCAGGCTGTGCTGTCACTGAG	0.393												
RPRM	56475	broad.mit.edu	37	2	154334995	154334995	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:154334995A>G	uc002tyq.1	-	1	328	c.85T>C	c.(85-87)TGC>CGC	p.C29R		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	29					cell cycle arrest	cytoplasm|integral to membrane	protein binding				0						TGGGTGCAGCAGCGCACGGCT	0.687												
TANC1	85461	broad.mit.edu	37	2	160053294	160053294	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:160053294G>A	uc002uag.2	+	18	3429	c.3155G>A	c.(3154-3156)GGC>GAC	p.G1052D	TANC1_uc010zcm.1_Missense_Mutation_p.G1044D|TANC1_uc010fom.1_Missense_Mutation_p.G858D|TANC1_uc010fon.2_5'Flank	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1052	ANK 5.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GCCAGCATGGGCCACAGCTCG	0.632												
LRP2	4036	broad.mit.edu	37	2	170062048	170062048	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:170062048C>T	uc002ues.2	-	41	7869	c.7656G>A	c.(7654-7656)ATG>ATA	p.M2552I		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2552	LDL-receptor class B 27.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCCCACTGGGCATGACCAGAC	0.517												
PPIG	9360	broad.mit.edu	37	2	170493803	170493803	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:170493803G>A	uc002uez.2	+	14	2255	c.2035G>A	c.(2035-2037)GAA>AAA	p.E679K	PPIG_uc010fpx.2_Missense_Mutation_p.E664K|PPIG_uc010fpy.2_Missense_Mutation_p.E672K|PPIG_uc002ufb.2_Missense_Mutation_p.E679K|PPIG_uc002ufd.2_Missense_Mutation_p.E676K	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	679					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	TAACAGCAGGGAAAAAAAGGC	0.353												
RAPGEF4	11069	broad.mit.edu	37	2	173782536	173782536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:173782536C>T	uc002uhv.3	+	5	638	c.451C>T	c.(451-453)CGA>TGA	p.R151*	RAPGEF4_uc002uhu.2_Nonsense_Mutation_p.R151*|RAPGEF4_uc002uhw.3_Nonsense_Mutation_p.R7*|RAPGEF4_uc010zec.1_5'UTR|RAPGEF4_uc010zed.1_5'UTR|RAPGEF4_uc010zee.1_5'UTR|RAPGEF4_uc010fqo.2_5'UTR	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	151	cAMP 1.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCAGAAATATCGACAGTATAT	0.358												
EVX2	344191	broad.mit.edu	37	2	176948108	176948108	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:176948108C>T	uc010zeu.1	-	1	583	c.397G>A	c.(397-399)GCC>ACC	p.A133T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	133						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGCTGAGCGGCGCCGAGGCCC	0.682												
TTN	7273	broad.mit.edu	37	2	179393909	179393909	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:179393909T>C	uc010zfg.1	-	309	99089	c.98865A>G	c.(98863-98865)CAA>CAG	p.Q32955Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Q26650Q|TTN_uc010zfi.1_Silent_p.Q26583Q|TTN_uc010zfj.1_Silent_p.Q26458Q|TTN_uc002umq.2_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33882							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)			CAGAAGTCTTTTGTGTAGAGA	0.373												
TTN	7273	broad.mit.edu	37	2	179437710	179437710	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:179437710C>T	uc010zfg.1	-	275	65669	c.65445G>A	c.(65443-65445)TCG>TCA	p.S21815S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S15510S|TTN_uc010zfi.1_Silent_p.S15443S|TTN_uc010zfj.1_Silent_p.S15318S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22742							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)			TGATAGTATACGAAGTTGCCT	0.483												
TTN	7273	broad.mit.edu	37	2	179585746	179585746	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:179585746G>A	uc010zfg.1	-	76	19492	c.19268C>T	c.(19267-19269)ACG>ATG	p.T6423M	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T3084M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7350							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)			TTCATTGATCGTAAGCAATGC	0.453												
TTN	7273	broad.mit.edu	37	2	179647124	179647124	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:179647124A>G	uc010zfg.1	-	20	3419	c.3195T>C	c.(3193-3195)ACT>ACC	p.T1065T	TTN_uc010zfh.1_Silent_p.T1019T|TTN_uc010zfi.1_Silent_p.T1019T|TTN_uc010zfj.1_Silent_p.T1019T|TTN_uc002unb.2_Silent_p.T1065T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1065							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)			GGCTAGTATCAGTCATAACCA	0.493												
CCDC141	285025	broad.mit.edu	37	2	179736188	179736188	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:179736188C>T	uc002unf.1	-	4	503	c.446G>A	c.(445-447)CGA>CAA	p.R149Q		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	149							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCATTTTTGTCGTAGATCTAA	0.393												
NCKAP1	10787	broad.mit.edu	37	2	183790471	183790471	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:183790471A>G	uc002upc.2	-	31	3748	c.3346T>C	c.(3346-3348)TAC>CAC	p.Y1116H	NCKAP1_uc002upb.2_Missense_Mutation_p.Y1122H	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	1116					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACAGCATGGTATGCATTTCTC	0.338												
KCTD18	130535	broad.mit.edu	37	2	201363678	201363678	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:201363678C>T	uc002uvs.2	-	4	1019	c.502G>A	c.(502-504)GAT>AAT	p.D168N	KCTD18_uc002uvt.2_Missense_Mutation_p.D168N|KCTD18_uc002uvu.1_Missense_Mutation_p.D168N	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	168						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						TCTGTTCCATCAGTTTTTGTG	0.368												
TRAK2	66008	broad.mit.edu	37	2	202254126	202254126	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:202254126G>A	uc002uyb.3	-	12	1740	c.1294C>T	c.(1294-1296)CGT>TGT	p.R432C		NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	432	Interaction with HGS (By similarity).			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding				0						ACACTTGAACGGTTGGAGCCT	0.517												
MAP2	4133	broad.mit.edu	37	2	210559607	210559607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:210559607C>T	uc002vde.1	+	7	2961	c.2713C>T	c.(2713-2715)CGA>TGA	p.R905*	MAP2_uc002vdc.1_Nonsense_Mutation_p.R905*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.R901*	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	905					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGATAAAGTTCGAAGAGATTT	0.453												
ATIC	471	broad.mit.edu	37	2	216214278	216214278	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:216214278C>T	uc002vex.3	+	16	1853	c.1679C>T	c.(1678-1680)GCG>GTG	p.A560V	ATIC_uc010zjo.1_Missense_Mutation_p.A501V|ATIC_uc002vey.3_Missense_Mutation_p.A559V	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	560					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GCGTACATTGCGGCTCCCTCC	0.473			T	ALK	ALCL							
CXCR1	3577	broad.mit.edu	37	2	219028909	219028909	+	Silent	SNP	C	C	T	rs144791200	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:219028909C>T	uc002vhc.2	-	2	1145	c.1026G>A	c.(1024-1026)TCG>TCA	p.S342S		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	342	Cytoplasmic (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						CATTGACAGACGAAGAAGTGT	0.468												
ZNF142	7701	broad.mit.edu	37	2	219508172	219508172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:219508172G>A	uc002vin.2	-	8	3503	c.3067C>T	c.(3067-3069)CAG>TAG	p.Q1023*	ZNF142_uc002vil.2_Nonsense_Mutation_p.Q984*|ZNF142_uc010fvt.2_Nonsense_Mutation_p.Q860*|ZNF142_uc002vim.2_Nonsense_Mutation_p.Q860*	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1023					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		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)		AACTTGCCCTGCTCAAAGCGG	0.612												
GMPPA	29926	broad.mit.edu	37	2	220367131	220367131	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:220367131G>A	uc002vlr.2	+	6	525	c.457G>A	c.(457-459)GGC>AGC	p.G153S	GMPPA_uc002vls.2_Missense_Mutation_p.G153S|GMPPA_uc002vlt.2_Missense_Mutation_p.G153S|GMPPA_uc002vlu.2_Missense_Mutation_p.G153S|GMPPA_uc002vlv.2_Missense_Mutation_p.G153S|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.G153S	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	153					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCTCAACTACGGCTGCATCGT	0.562												
SLC4A3	6508	broad.mit.edu	37	2	220502391	220502391	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:220502391G>A	uc002vmp.3	+	17	2893	c.2624G>A	c.(2623-2625)AGT>AAT	p.S875N	SLC4A3_uc002vmo.3_Missense_Mutation_p.S902N|SLC4A3_uc010fwm.2_Missense_Mutation_p.S425N|SLC4A3_uc010fwn.1_Missense_Mutation_p.S384N	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	875	Membrane (anion exchange).			S -> C (in Ref. 2; AAB05850).	bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAAATGGCAGTGCCCTGCCC	0.642												
GPR55	9290	broad.mit.edu	37	2	231775182	231775182	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:231775182A>G	uc002vrg.2	-	2	689	c.496T>C	c.(496-498)TAC>CAC	p.Y166H	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.Y166H	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	166	Extracellular (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)		AAGCACATGTATTTTTCCACT	0.537												
NEU2	4759	broad.mit.edu	37	2	233898912	233898912	+	Silent	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:233898912G>T	uc010zmn.1	+	2	288	c.288G>T	c.(286-288)GGG>GGT	p.G96G		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	96							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CGCAGACGGGGACCCTCTTCC	0.627												
ANKMY1	51281	broad.mit.edu	37	2	241492466	241492466	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:241492466A>G	uc002vyz.1	-	3	307	c.78T>C	c.(76-78)CAT>CAC	p.H26H	ANKMY1_uc002vza.1_Silent_p.H115H|ANKMY1_uc010fzd.1_Silent_p.H115H|ANKMY1_uc002vzb.1_Silent_p.H115H|ANKMY1_uc002vzc.1_Silent_p.H115H|ANKMY1_uc002vzd.1_Silent_p.H115H|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Silent_p.H17H|ANKMY1_uc002vzf.2_Silent_p.H17H	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	26	MORN 2.						zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AAAACTGCCCATGGTATGACT	0.552												
ZCCHC3	85364	broad.mit.edu	37	20	279025	279025	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:279025C>T	uc002wdf.2	+	2	819	c.795C>T	c.(793-795)GAC>GAT	p.D265D	ZCCHC3_uc002wdg.2_RNA	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	266							nucleic acid binding|zinc ion binding				0		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			AGACGGTGGACGTGGAGGACA	0.597												
SNPH	9751	broad.mit.edu	37	20	1281343	1281343	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:1281343G>A	uc002wes.2	+	5	532	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	SNPH_uc002wet.2_Missense_Mutation_p.R143Q	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	99	Potential.				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						ACACAGGACCGGCTCCAGGAC	0.677												
SIRPB1	10326	broad.mit.edu	37	20	1559072	1559072	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:1559072G>A	uc010gai.2	-	2	444	c.345C>T	c.(343-345)GCC>GCT	p.A115A	SIRPB1_uc002wfk.3_Silent_p.A115A	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	115	Extracellular (Potential).|Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						AGTAGGTGCCGGCGTCTGCTG	0.532												
IDH3B	3420	broad.mit.edu	37	20	2640407	2640407	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:2640407G>A	uc002wgp.2	-	10	957	c.948C>T	c.(946-948)GGC>GGT	p.G316G	IDH3B_uc002wgq.2_Silent_p.G316G|IDH3B_uc002wgr.2_Silent_p.G164G	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	316					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	CTATATTCCTGCCCACTGCCT	0.607												
VPS16	64601	broad.mit.edu	37	20	2841159	2841159	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:2841159C>T	uc002whe.2	+	5	482	c.434C>T	c.(433-435)GCC>GTC	p.A145V	VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.A145V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	145					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						TCCGGAGTGGCCATCCTCACA	0.607												
ProSAPiP1	9762	broad.mit.edu	37	20	3146682	3146682	+	Missense_Mutation	SNP	C	C	T	rs113680437		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:3146682C>T	uc002wia.1	-	2	2182	c.784G>A	c.(784-786)GGC>AGC	p.G262S	ProSAPiP1_uc002wib.1_Missense_Mutation_p.G262S	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	262						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						CCGCTGCTGCCGCCACTACCA	0.647												
SIGLEC1	6614	broad.mit.edu	37	20	3669866	3669866	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:3669866C>T	uc002wja.2	-	20	5006	c.5006G>A	c.(5005-5007)CGT>CAT	p.R1669H	SIGLEC1_uc002wjb.1_3'UTR|SIGLEC1_uc002wiz.3_Intron	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1669	Cytoplasmic (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.1670_1673del(1)		pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						CTTACAAACACGCCTCCTTCT	0.582												
PRND	23627	broad.mit.edu	37	20	4705664	4705664	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:4705664G>A	uc002wkz.2	+	2	538	c.467G>A	c.(466-468)CGG>CAG	p.R156Q		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	156					protein homooligomerization	anchored to membrane|plasma membrane					0						GCAGGACTTCGGGTCACCATG	0.597												
MCM8	84515	broad.mit.edu	37	20	5952655	5952655	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:5952655C>T	uc002wmi.2	+	11	1603	c.1226C>T	c.(1225-1227)TCG>TTG	p.S409L	MCM8_uc002wmj.2_Missense_Mutation_p.S393L|MCM8_uc002wmk.2_Intron|MCM8_uc002wml.2_Missense_Mutation_p.S409L|MCM8_uc010gbp.2_Missense_Mutation_p.S409L|MCM8_uc002wmm.2_5'UTR	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	409	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						TTTTTCAGCTCGCTTTGCCCT	0.289												
LRRN4	164312	broad.mit.edu	37	20	6021949	6021949	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:6021949G>A	uc002wmo.2	-	5	2166	c.1942C>T	c.(1942-1944)CGC>TGC	p.R648C		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	648	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(3)	3						ACGCACACGCGGTAGGTGGTG	0.721												
C20orf94	128710	broad.mit.edu	37	20	10582435	10582435	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:10582435C>T	uc010zre.1	+	6	553	c.373C>T	c.(373-375)CGT>TGT	p.R125C		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	125							protein binding				0						TGCATTCAGTCGTGATCTTTT	0.318												
RRBP1	6238	broad.mit.edu	37	20	17601385	17601385	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:17601385C>T	uc002wpv.1	-	18	2537	c.2183G>A	c.(2182-2184)GGC>GAC	p.G728D	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.G98D|RRBP1_uc002wpu.2_Missense_Mutation_p.G502D|RRBP1_uc002wpw.1_Missense_Mutation_p.G728D|RRBP1_uc010gcl.1_Missense_Mutation_p.G502D|RRBP1_uc010gcm.1_Missense_Mutation_p.G181D	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1161	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CTCTGCGGCGCCCACCTTGGC	0.647												
RRBP1	6238	broad.mit.edu	37	20	17601390	17601390	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:17601390C>A	uc002wpv.1	-	18	2532	c.2178G>T	c.(2176-2178)AAG>AAT	p.K726N	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.K96N|RRBP1_uc002wpu.2_Missense_Mutation_p.K500N|RRBP1_uc002wpw.1_Missense_Mutation_p.K726N|RRBP1_uc010gcl.1_Missense_Mutation_p.K500N|RRBP1_uc010gcm.1_Missense_Mutation_p.K179N	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1159	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CGGCGCCCACCTTGGCCCTCC	0.657												
RRBP1	6238	broad.mit.edu	37	20	17617252	17617252	+	Translation_Start_Site	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:17617252G>A	uc010gcm.1	-	1	123	c.-235C>T	c.(-237--233)CACGT>CATGT		RRBP1_uc002wpu.2_Silent_p.H110H|RRBP1_uc002wpv.1_Silent_p.H336H|RRBP1_uc002wpw.1_Silent_p.H336H|RRBP1_uc010gcl.1_Silent_p.H110H			Q9P2E9	RRBP1_HUMAN	Homo sapiens mRNA for KIAA1398 protein, partial cds.						protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CCTCCTTCACGTGCTCCCGGT	0.662												
RALGAPA2	57186	broad.mit.edu	37	20	20527373	20527373	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:20527373C>A	uc002wrz.2	-	24	3403	c.3260G>T	c.(3259-3261)AGG>ATG	p.R1087M	RALGAPA2_uc010gcx.2_Missense_Mutation_p.R791M|RALGAPA2_uc010zsg.1_Missense_Mutation_p.R535M	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1087					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						GCTAAGGACCCTGGCAGCGGC	0.507												
XRN2	22803	broad.mit.edu	37	20	21312221	21312221	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:21312221C>T	uc002wsf.1	+	7	694	c.599C>T	c.(598-600)GCT>GTT	p.A200V	XRN2_uc002wsg.1_Missense_Mutation_p.A124V|XRN2_uc010zsk.1_Missense_Mutation_p.A146V	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	200					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						GATGCTAGTGCTCCTGGTGAA	0.294												
XRN2	22803	broad.mit.edu	37	20	21369921	21369921	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:21369921G>A	uc002wsf.1	+	30	2893	c.2798G>A	c.(2797-2799)AGA>AAA	p.R933K	XRN2_uc002wsg.1_Missense_Mutation_p.R857K|XRN2_uc010zsk.1_Missense_Mutation_p.R879K|XRN2_uc002wsh.1_Missense_Mutation_p.R71K	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	933					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						GGATATCCCAGAGAAGGAAGG	0.363												
TMEM90B	79953	broad.mit.edu	37	20	24523741	24523741	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:24523741G>A	uc002wtw.1	+	2	641	c.8G>A	c.(7-9)GGC>GAC	p.G3D		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	3	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						ACCATGGATGGCATCATTGAA	0.507												
ASXL1	171023	broad.mit.edu	37	20	31021635	31021635	+	Missense_Mutation	SNP	G	G	A	rs149449801		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:31021635G>A	uc002wxs.2	+	11	2060	c.1634G>A	c.(1633-1635)CGT>CAT	p.R545H	ASXL1_uc010geb.2_Missense_Mutation_p.R436H	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	545					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CTTGAAGATCGTCAGTCCTTT	0.522			F|N|Mis		MDS|CMML							
C20orf112	140688	broad.mit.edu	37	20	31044122	31044122	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:31044122G>A	uc002wxu.3	-	3	343	c.186C>T	c.(184-186)GGC>GGT	p.G62G	C20orf112_uc010gec.2_5'UTR	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	62											0						AGGCAGGGTCGCCCTGCGTGC	0.637												
CBFA2T2	9139	broad.mit.edu	37	20	32232182	32232182	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:32232182C>T	uc002wzg.1	+	12	2082	c.1545C>T	c.(1543-1545)AGC>AGT	p.S515S	CBFA2T2_uc010zug.1_Silent_p.S289S|CBFA2T2_uc002wze.1_Silent_p.S506S|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.S486S|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.S63S	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	515						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						GCAAAGCCAGCGAGACATGCA	0.567												
PXMP4	11264	broad.mit.edu	37	20	32298427	32298427	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:32298427G>A	uc002wzv.2	-	3	432	c.309C>T	c.(307-309)CAC>CAT	p.H103H	PXMP4_uc002wzw.2_Intron|PXMP4_uc010zuh.1_Missense_Mutation_p.T110M	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4 isoform a	103	Helical; (Potential).					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity				0						CCAGGAATGCGTGTGCTGGGT	0.542												
GDF5	8200	broad.mit.edu	37	20	34022216	34022216	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:34022216C>T	uc002xck.1	-	2	1316	c.997G>A	c.(997-999)GCC>ACC	p.A333T	GDF5_uc010gfc.1_Missense_Mutation_p.A333T|uc002xcj.2_Silent_p.G209G|GDF5_uc010zvc.1_Missense_Mutation_p.A333T	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	333					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ACCTGCCGGGCGGCGCGGTCG	0.637												
PHF20	51230	broad.mit.edu	37	20	34526962	34526962	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:34526962C>T	uc002xek.1	+	16	2755	c.2644C>T	c.(2644-2646)CGC>TGC	p.R882C		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	882					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					CCTTTCCCCGCGCCTGGGCTG	0.617												
NDRG3	57446	broad.mit.edu	37	20	35310930	35310930	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:35310930G>A	uc002xfw.2	-	7	517	c.435C>T	c.(433-435)AGC>AGT	p.S145S	NDRG3_uc002xfx.2_Silent_p.S133S|NDRG3_uc010zvq.1_Silent_p.S50S|NDRG3_uc010zvr.1_Silent_p.S33S	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream regulated gene 3 isoform a	145					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)				CTGCAAATCTGCTGAGGATGT	0.458												
TOP1	7150	broad.mit.edu	37	20	39728804	39728804	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:39728804C>T	uc002xjl.2	+	12	1330	c.1084C>T	c.(1084-1086)CGT>TGT	p.R362C	uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	362					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TGGACTTTTCCGTGGCCGCGG	0.448			T	NUP98	AML*							
CHD6	84181	broad.mit.edu	37	20	40034022	40034022	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:40034022A>G	uc002xka.1	-	37	7537	c.7359T>C	c.(7357-7359)GCT>GCC	p.A2453A	CHD6_uc002xjz.1_5'UTR	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2453					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CAATGGAAGGAGCCTTCAGGA	0.542												
CTSA	5476	broad.mit.edu	37	20	44527011	44527011	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:44527011C>T	uc002xqj.3	+	15	1839	c.1365C>T	c.(1363-1365)GCC>GCT	p.A455A	CTSA_uc002xqh.2_Silent_p.A473A|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Silent_p.A456A|CTSA_uc002xqk.3_Silent_p.A455A	NM_001127695	NP_001121167	P10619	PPGB_HUMAN	cathepsin A isoform b precursor	455					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CTCAGGGCGCCGGCCACATGG	0.577												
ARFGEF2	10564	broad.mit.edu	37	20	47630185	47630185	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:47630185G>A	uc002xtx.3	+	29	4155	c.4003G>A	c.(4003-4005)GAA>AAA	p.E1335K	ARFGEF2_uc010zyf.1_Missense_Mutation_p.E628K	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1335					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CATCTTATTCGAACTCTCCTG	0.458												
PTGIS	5740	broad.mit.edu	37	20	48156225	48156225	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:48156225C>T	uc002xut.2	-	5	609	c.555G>A	c.(553-555)GCG>GCA	p.A185A	PTGIS_uc010zyi.1_Silent_p.A46A	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	185					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TGCGTGGCAGCGCCTCAATTC	0.632												
MC3R	4159	broad.mit.edu	37	20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:54824818C>T	uc002xxb.2	+	1	1031	c.919C>T	c.(919-921)CGC>TGC	p.R307C		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	344	Cytoplasmic (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	p.R344C(1)		ovary(2)|breast(2)	4			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517												
ZBP1	81030	broad.mit.edu	37	20	56190020	56190020	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:56190020C>T	uc002xyo.2	-	4	706	c.425G>A	c.(424-426)CGA>CAA	p.R142Q	ZBP1_uc010gjm.2_Missense_Mutation_p.R142Q|ZBP1_uc002xyp.2_Missense_Mutation_p.R67Q|ZBP1_uc010zzn.1_Missense_Mutation_p.R142Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	142	DRADA 2.					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GTACAAGTCTCGGTTCACATC	0.552												
ZNF831	128611	broad.mit.edu	37	20	57767064	57767064	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:57767064G>T	uc002yan.2	+	1	990	c.990G>T	c.(988-990)AAG>AAT	p.K330N		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	330						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GGGATGCCAAGGCCCCCGAGG	0.726												
LAMA5	3911	broad.mit.edu	37	20	60887969	60887969	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:60887969G>A	uc002ycq.2	-	66	9120	c.9053C>T	c.(9052-9054)CCG>CTG	p.P3018L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3018	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCAGGGGCGGTGGGGGCTG	0.672												
CABLES2	81928	broad.mit.edu	37	20	60966455	60966455	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:60966455C>T	uc002ycv.2	-	9	1153	c.1146G>A	c.(1144-1146)ACG>ACA	p.T382T		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	382					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCATGGCCACCGTCACGGGCT	0.632												
DIDO1	11083	broad.mit.edu	37	20	61513747	61513747	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:61513747C>T	uc002ydr.1	-	16	3825	c.3561G>A	c.(3559-3561)CCG>CCA	p.P1187P	DIDO1_uc002yds.1_Silent_p.P1187P	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1187					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GAATTATATTCGGACGTGGTG	0.398												
SLC17A9	63910	broad.mit.edu	37	20	61595621	61595621	+	Silent	SNP	G	G	A	rs147672643	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:61595621G>A	uc002yea.3	+	8	1048	c.864G>A	c.(862-864)CCG>CCA	p.P288P	SLC17A9_uc002ydz.3_Silent_p.P282P|SLC17A9_uc011aap.1_Silent_p.P308P	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	288	Helical; (Potential).				exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						TGGCGATTCCGGCCAGTCTAT	0.612												
PRIC285	85441	broad.mit.edu	37	20	62203698	62203698	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:62203698C>T	uc002yfm.2	-	2	933	c.41G>A	c.(40-42)CGG>CAG	p.R14Q	PRIC285_uc002yfn.2_Missense_Mutation_p.R14Q	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	14					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAGGTCCCCCCGCTGGAGGCC	0.736												
NCAM2	4685	broad.mit.edu	37	21	22656690	22656690	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:22656690C>G	uc002yld.1	+	3	556	c.307C>G	c.(307-309)CAA>GAA	p.Q103E	NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.Q128E	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	103	Ig-like C2-type 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGGACAAACACAAGAAGCTAC	0.323												
ADAMTS1	9510	broad.mit.edu	37	21	28216622	28216622	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:28216622C>T	uc002ymf.2	-	1	1107	c.652G>A	c.(652-654)GAA>AAA	p.E218K		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	218					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		TCAGTCCCTTCGTCCTCGTCT	0.677											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNAJC28	54943	broad.mit.edu	37	21	34861110	34861110	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:34861110C>T	uc002yrv.2	-	2	1040	c.591G>A	c.(589-591)ACG>ACA	p.T197T	DNAJC28_uc002yrw.2_Silent_p.T197T	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	197							heat shock protein binding				0						CTATAGCTTGCGTTATCTTTT	0.358												
MORC3	23515	broad.mit.edu	37	21	37741742	37741742	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:37741742A>G	uc002yvi.2	+	15	2152	c.2076A>G	c.(2074-2076)GCA>GCG	p.A692A		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	692	Potential.				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						CAGATGATGCAGGCTGCCAAT	0.403												
CLDN14	23562	broad.mit.edu	37	21	37833534	37833534	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:37833534T>C	uc002yvk.1	-	2	602	c.460A>G	c.(460-462)AGC>GGC	p.S154G	CLDN14_uc002yvn.1_Missense_Mutation_p.S154G|CLDN14_uc002yvo.1_Missense_Mutation_p.S154G|CLDN14_uc002yvl.1_Missense_Mutation_p.S154G|CLDN14_uc002yvm.1_Missense_Mutation_p.S154G	NM_012130	NP_036262	O95500	CLD14_HUMAN	claudin 14	154	Extracellular (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TTCATGCCGCTGGGCAGCAGC	0.627												
CLDN14	23562	broad.mit.edu	37	21	37833611	37833611	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:37833611G>A	uc002yvk.1	-	2	525	c.383C>T	c.(382-384)GCC>GTC	p.A128V	CLDN14_uc002yvn.1_Missense_Mutation_p.A128V|CLDN14_uc002yvo.1_Missense_Mutation_p.A128V|CLDN14_uc002yvl.1_Missense_Mutation_p.A128V|CLDN14_uc002yvm.1_Missense_Mutation_p.A128V	NM_012130	NP_036262	O95500	CLD14_HUMAN	claudin 14	128	Helical; (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CAGGAGGCCGGCCAGGATGAA	0.642												
ETS2	2114	broad.mit.edu	37	21	40186201	40186201	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:40186201C>T	uc002yxg.2	+	4	385	c.189C>T	c.(187-189)TCC>TCT	p.S63S	ETS2_uc002yxf.2_Silent_p.S203S	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	63					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTCCAGACTCCGCCAACTGTG	0.473												
PRDM15	63977	broad.mit.edu	37	21	43231123	43231123	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:43231123T>C	uc002yzq.1	-	27	3671	c.3560A>G	c.(3559-3561)AAG>AGG	p.K1187R	PRDM15_uc002yzo.2_Missense_Mutation_p.K858R|PRDM15_uc002yzp.2_Missense_Mutation_p.K878R|PRDM15_uc002yzr.1_Missense_Mutation_p.K878R	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1187	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTGGATGAGCTTGTGGGTCTC	0.577												
ZNF295	49854	broad.mit.edu	37	21	43411609	43411609	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:43411609C>T	uc002zab.3	-	3	2810	c.2596G>A	c.(2596-2598)GAA>AAA	p.E866K	ZNF295_uc002yzz.3_Missense_Mutation_p.E665K|ZNF295_uc002yzy.3_Missense_Mutation_p.E866K|ZNF295_uc002zaa.3_Missense_Mutation_p.E866K	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	866					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CTAAGGTCTTCGGGAAGACAA	0.483												
LRRC3	81543	broad.mit.edu	37	21	45877042	45877042	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:45877042G>A	uc002zfa.2	+	2	808	c.515G>A	c.(514-516)TGC>TAC	p.C172Y		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	172						integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GAGATCGCCTGCCACACCTCA	0.647												
KRTAP10-12	386685	broad.mit.edu	37	21	46117692	46117692	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:46117692C>T	uc002zfw.1	+	1	606	c.576C>T	c.(574-576)TCC>TCT	p.S192S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	keratin associated protein 10-12	192	18.|19 X 5 AA repeats of C-C-X(3).					keratin filament					0						GCAGACCCTCCTCCTCCGTGT	0.687												
SUMO3	6612	broad.mit.edu	37	21	46233931	46233931	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:46233931G>A	uc002zfz.1	-	2	271	c.110C>T	c.(109-111)ACG>ATG	p.T37M	SUMO3_uc011afi.1_Missense_Mutation_p.T37M|SUMO3_uc002zga.1_Missense_Mutation_p.T37M	NM_006936	NP_008867	P55854	SUMO3_HUMAN	small ubiquitin-like modifier protein 3	37	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding				0				Colorectal(79;0.058)		GCTCAGCGGCGTGTGCCTCTT	0.617												
COL6A2	1292	broad.mit.edu	37	21	47552299	47552299	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:47552299C>T	uc002zia.1	+	28	2975	c.2893C>T	c.(2893-2895)CGC>TGC	p.R965C	COL6A2_uc002zib.1_Missense_Mutation_p.R371C|COL6A2_uc002zic.1_Silent_p.C39C|COL6A2_uc010gqe.1_RNA	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	965	Nonhelical region.|VWFA 3.				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)		GCACTCCATGCGCAAGCAGAA	0.687												
MCM3AP	8888	broad.mit.edu	37	21	47663638	47663638	+	Splice_Site	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:47663638T>C	uc002zir.1	-	24	5075	c.5039_splice	c.e24-1	p.A1680_splice	MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Splice_Site_p.A175_splice|MCM3AP_uc002zip.1_Splice_Site_p.A421_splice|MCM3AP_uc002ziq.1_Splice_Site_p.A607_splice|MCM3APAS_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3						DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					GCCAGGGGGCTGGGGAGAAAG	0.532												
MCM3AP	8888	broad.mit.edu	37	21	47686064	47686064	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:47686064G>A	uc002zir.1	-	11	2842	c.2806C>T	c.(2806-2808)CGG>TGG	p.R936W	MCM3AP_uc002ziq.1_5'UTR	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	936					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					AATGCAGACCGGTTCAGCTCC	0.562												
PCNT	5116	broad.mit.edu	37	21	47841990	47841990	+	Silent	SNP	G	G	A	rs142266651		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:47841990G>A	uc002zji.3	+	32	7238	c.7131G>A	c.(7129-7131)CCG>CCA	p.P2377P	PCNT_uc002zjj.2_Silent_p.P2259P	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2377					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GGTTTCAGCCGCTGCCGGAAG	0.622												
PRMT2	3275	broad.mit.edu	37	21	48083456	48083456	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:48083456C>G	uc002zjx.2	+	11	1573	c.1259C>G	c.(1258-1260)ACA>AGA	p.T420R	PRMT2_uc002zjy.2_Missense_Mutation_p.T420R|PRMT2_uc010gqm.2_Missense_Mutation_p.T318R|PRMT2_uc011aga.1_Missense_Mutation_p.H272Q|PRMT2_uc011agb.1_Intron|PRMT2_uc011agc.1_Intron	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	420					developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			ovary(1)	1	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CAAGACCCCACATCTCAAAAA	0.547												
POTEH	23784	broad.mit.edu	37	22	16267071	16267071	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:16267071C>T	uc010gqp.2	-	9	1430	c.1378G>A	c.(1378-1380)GGA>AGA	p.G460R	POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.G179R|POTEH_uc002zlj.1_Missense_Mutation_p.G295R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	460										skin(1)	1						TGAGTACTTCCGTGCTTCTTC	0.363												
MICAL3	57553	broad.mit.edu	37	22	18379717	18379717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:18379717G>A	uc002zng.3	-	8	1332	c.979C>T	c.(979-981)CGA>TGA	p.R327*	MICAL3_uc011agl.1_Nonsense_Mutation_p.R327*|MICAL3_uc002znh.2_Nonsense_Mutation_p.R327*|MICAL3_uc002znj.1_Nonsense_Mutation_p.R27*|MICAL3_uc002znk.1_Nonsense_Mutation_p.R327*|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Nonsense_Mutation_p.R327*	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	327						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		ACGTTTTCTCGGGAAAGCAGG	0.562											OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MRPL40	64976	broad.mit.edu	37	22	19420868	19420868	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:19420868T>C	uc002zpg.2	+	2	176	c.134T>C	c.(133-135)ATG>ACG	p.M45T	HIRA_uc002zpf.1_5'Flank|HIRA_uc011agx.1_5'Flank|HIRA_uc010grn.1_5'Flank|HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|MRPL40_uc002zph.2_Missense_Mutation_p.M1T	NM_003776	NP_003767	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40 precursor	45					anatomical structure morphogenesis	mitochondrial ribosome|nucleus					0	Colorectal(54;0.0993)					CTCATTCCCATGAGGTAAAAC	0.468												
ZDHHC8	29801	broad.mit.edu	37	22	20130311	20130311	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:20130311C>T	uc002zrq.2	+	10	1264	c.1158C>T	c.(1156-1158)GAC>GAT	p.D386D	ZDHHC8_uc002zrr.1_Silent_p.D386D|ZDHHC8_uc010gsa.2_Silent_p.D192D	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	386	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CCCTGGGGGACGACAGCATCC	0.667												
MED15	51586	broad.mit.edu	37	22	20940112	20940112	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:20940112C>T	uc002zsp.2	+	17	2309	c.2229C>T	c.(2227-2229)TAC>TAT	p.Y743Y	MED15_uc002zsq.2_Silent_p.Y703Y|MED15_uc010gso.2_Silent_p.Y686Y|MED15_uc002zsr.2_Silent_p.Y677Y|MED15_uc011ahs.1_Silent_p.Y677Y|MED15_uc002zss.2_Silent_p.Y622Y|MED15_uc011ahu.1_Silent_p.Y453Y|MED15_uc002zst.2_Silent_p.Y359Y|MED15_uc002zsu.2_Silent_p.Y348Y	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	743					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AGTGGCAGTACGGTAGGTAGA	0.607												
SNAP29	9342	broad.mit.edu	37	22	21224675	21224675	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:21224675C>T	uc011ahw.1	+	2	395	c.288C>T	c.(286-288)GAC>GAT	p.D96D		NM_004782	NP_004773	O95721	SNP29_HUMAN	synaptosomal-associated protein 29	96	Potential.				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity				0	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AGATGGTGGACAAGATGGACC	0.512												
SLC7A4	6545	broad.mit.edu	37	22	21385285	21385285	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:21385285C>T	uc002zud.2	-	2	885	c.817G>A	c.(817-819)GCC>ACC	p.A273T	SLC7A4_uc002zue.2_Missense_Mutation_p.A273T	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	273	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCGAGATGGCGATGGCCAGA	0.632												
MAPK1	5594	broad.mit.edu	37	22	22160224	22160224	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:22160224C>T	uc002zvn.2	-	3	647	c.407G>A	c.(406-408)GGG>GAG	p.G136E	MAPK1_uc002zvo.2_Missense_Mutation_p.G136E|MAPK1_uc010gtk.1_Missense_Mutation_p.G136E	NM_002745	NP_002736	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	136	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	ATATTTTAACCCTCTGAGGAT	0.448												
SMARCB1	6598	broad.mit.edu	37	22	24145518	24145518	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:24145518C>T	uc002zyb.2	+	5	744	c.537C>T	c.(535-537)AAC>AAT	p.N179N	SMARCB1_uc002zya.2_Silent_p.N179N|SMARCB1_uc002zyc.2_Silent_p.N170N|SMARCB1_uc002zyd.2_Silent_p.N188N|SMARCB1_uc002zye.1_Silent_p.N105N|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_RNA	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	179	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(5)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TCCATGAGAACGCATCTCAGC	0.552			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis			
TFIP11	24144	broad.mit.edu	37	22	26892177	26892177	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:26892177G>A	uc003acr.2	-	11	2085	c.1711C>T	c.(1711-1713)CGT>TGT	p.R571C	TFIP11_uc003acq.2_5'Flank|TFIP11_uc003acs.2_Missense_Mutation_p.R571C|TFIP11_uc003act.2_Missense_Mutation_p.R571C	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	571					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCTTACTACGGATGGGGGAA	0.597												
EWSR1	2130	broad.mit.edu	37	22	29668385	29668385	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:29668385G>A	uc003aet.2	+	3	395	c.67G>A	c.(67-69)GCC>ACC	p.A23T	EWSR1_uc003aes.3_Missense_Mutation_p.A23T|EWSR1_uc003aev.2_Missense_Mutation_p.A23T|EWSR1_uc003aew.2_Missense_Mutation_p.A23T|EWSR1_uc003aex.2_Missense_Mutation_p.A23T	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	23	EAD (Gln/Pro/Thr-rich).|2.|31 X approximate tandem repeats.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						TGCTTACACCGCCCAGCCCAC	0.368			T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma							
PISD	23761	broad.mit.edu	37	22	32015765	32015765	+	Missense_Mutation	SNP	C	C	T	rs61747365		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:32015765C>T	uc003alm.3	-	8	1070	c.1063G>A	c.(1063-1065)GTG>ATG	p.V355M	PISD_uc003alk.2_Missense_Mutation_p.V321M|PISD_uc003all.2_3'UTR|PISD_uc011alr.1_Missense_Mutation_p.V320M|PISD_uc003aln.3_Missense_Mutation_p.V317M	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	355					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	GTGTGCGTCACGAAGCTGAAG	0.612												
SLC5A1	6523	broad.mit.edu	37	22	32462978	32462978	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:32462978C>T	uc003amc.2	+	3	496	c.264C>T	c.(262-264)GCC>GCT	p.A88A	SLC5A1_uc011alz.1_5'UTR	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	88	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						TGGGGCTGGCCGGGACTGGGG	0.557												
RBM9	23543	broad.mit.edu	37	22	36205885	36205885	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:36205885G>A	uc003aon.3	-	3	516	c.404C>T	c.(403-405)ACG>ATG	p.T135M	RBM9_uc003aog.3_Missense_Mutation_p.T45M|RBM9_uc003aol.3_Missense_Mutation_p.T65M|RBM9_uc003aoj.3_Missense_Mutation_p.T65M|RBM9_uc003aok.3_Missense_Mutation_p.T65M|RBM9_uc003aoh.3_Missense_Mutation_p.T65M|RBM9_uc003aom.3_Missense_Mutation_p.T65M|RBM9_uc010gwu.2_Missense_Mutation_p.T45M|RBM9_uc003aoo.3_Missense_Mutation_p.T135M|RBM9_uc003aop.3_Missense_Mutation_p.T65M	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	RNA binding motif protein 9 isoform 5	75					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding				0						GTGGGCTTGCGTACTTCCGTA	0.542												
IL2RB	3560	broad.mit.edu	37	22	37533717	37533717	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:37533717G>A	uc003aqv.1	-	6	578	c.447C>T	c.(445-447)AAC>AAT	p.N149N		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	149	Extracellular (Potential).|Fibronectin type-III.				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)	CCCAGCTTATGTTGCATCTGT	0.532												
CARD10	29775	broad.mit.edu	37	22	37912253	37912253	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:37912253C>T	uc003asx.1	-	3	429	c.426G>A	c.(424-426)CGG>CGA	p.R142R	CARD10_uc003ast.1_RNA|CARD10_uc003asy.1_Silent_p.R142R	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	142	Potential.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					CTTCCCGCAGCCGTCGCACCT	0.652												
BAIAP2L2	80115	broad.mit.edu	37	22	38484757	38484757	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:38484757G>A	uc003auw.2	-	10	1260	c.1116C>T	c.(1114-1116)TCC>TCT	p.S372S	BAIAP2L2_uc003auv.2_5'Flank	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	372	SH3.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					CCACTCACGCGGACGAGCCCT	0.701												
SUN2	25777	broad.mit.edu	37	22	39135931	39135931	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:39135931C>T	uc003awh.1	-	14	1658	c.1374G>A	c.(1372-1374)CCG>CCA	p.P458P	SUN2_uc011anz.1_Silent_p.P493P|SUN2_uc011aoa.1_Silent_p.P447P|SUN2_uc003awi.1_Silent_p.P458P|SUN2_uc010gxq.1_Silent_p.P479P|SUN2_uc010gxr.1_Silent_p.P458P|SUN2_uc010gxs.1_Silent_p.P458P	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	458	Perinuclear space.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2						TGATCCAGGCCGGGAACTGAG	0.607												
TAB1	10454	broad.mit.edu	37	22	39817833	39817833	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:39817833G>A	uc003axt.2	+	8	827	c.778G>A	c.(778-780)GCT>ACT	p.A260T	TAB1_uc003axr.2_Missense_Mutation_p.A336T|TAB1_uc011aok.1_Missense_Mutation_p.A94T|TAB1_uc003axu.1_Missense_Mutation_p.A260T	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	260	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						TCCCCATAGCGCTGCCAAGTC	0.547												
MCHR1	2847	broad.mit.edu	37	22	41077720	41077720	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:41077720C>T	uc003ayz.2	+	2	1325	c.1057C>T	c.(1057-1059)CGC>TGC	p.R353C	MCHR1_uc003aza.2_Missense_Mutation_p.R242C|uc003azb.1_RNA	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	353	Extracellular (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						GTCCATCAGCCGCCCGACCCT	0.552												
CYP2D6	1565	broad.mit.edu	37	22	42523877	42523877	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:42523877G>T	uc003bce.2	-	6	1042	c.952C>A	c.(952-954)CTC>ATC	p.L318I	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.L12I|CYP2D6_uc003bcf.2_Missense_Mutation_p.L267I	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	318							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						ATGAGCAGGAGGCCCCAGGCC	0.607												
FAM118A	55007	broad.mit.edu	37	22	45719294	45719294	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:45719294C>T	uc003bfz.3	+	4	902	c.286C>T	c.(286-288)CGG>TGG	p.R96W	FAM118A_uc003bga.3_Missense_Mutation_p.R96W	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	96						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGATCTGATCCGGAAGATGTC	0.547												
FBLN1	2192	broad.mit.edu	37	22	45996196	45996196	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:45996196G>A	uc003bgj.1	+	17	2129	c.1982G>A	c.(1981-1983)CGC>CAC	p.R661H	FBLN1_uc003bgk.1_RNA	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	661					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGTGTCGTGCGCCAGGTGCGG	0.542												
CELSR1	9620	broad.mit.edu	37	22	46930415	46930415	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:46930415C>T	uc003bhw.1	-	1	2653	c.2653G>A	c.(2653-2655)GCC>ACC	p.A885T		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	885	Extracellular (Potential).|Cadherin 6.				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)		TTGTCATTGGCATCGAGGATG	0.562												
CELSR1	9620	broad.mit.edu	37	22	46931760	46931760	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:46931760C>T	uc003bhw.1	-	1	1308	c.1308G>A	c.(1306-1308)CCG>CCA	p.P436P		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	436	Extracellular (Potential).|Cadherin 2.				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)		TGAGCGGGCCCGGATTGCGCC	0.672												
TTLL8	164714	broad.mit.edu	37	22	50470410	50470410	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:50470410C>T	uc011ark.1	-	11	1412	c.1412G>A	c.(1411-1413)CGT>CAT	p.R471H		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CACGGCGCCACGGCCCTGGCG	0.642												
ITPR1	3708	broad.mit.edu	37	3	4829715	4829715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:4829715C>T	uc003bqa.2	+	49	6904	c.6556C>T	c.(6556-6558)CGA>TGA	p.R2186*	ITPR1_uc010hca.1_Nonsense_Mutation_p.R2171*|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Nonsense_Mutation_p.R1156*	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2234	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTCAAAACTACGAATTTACTA	0.398												
SRGAP3	9901	broad.mit.edu	37	3	9027584	9027584	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:9027584G>A	uc003brf.1	-	22	3595	c.2919C>T	c.(2917-2919)CAC>CAT	p.H973H	SRGAP3_uc003brg.1_Silent_p.H949H	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	973	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCCGCAACTCGTGCAGAGCCG	0.622			T	RAF1	pilocytic astrocytoma							
SRGAP3	9901	broad.mit.edu	37	3	9094775	9094775	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:9094775A>G	uc003brf.1	-	9	1935	c.1259T>C	c.(1258-1260)ATG>ACG	p.M420T	SRGAP3_uc003brg.1_Missense_Mutation_p.M420T|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brj.1_Missense_Mutation_p.M280T	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	420					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GATCTTGCTCATGTAGGTCTC	0.502			T	RAF1	pilocytic astrocytoma							
IL17RC	84818	broad.mit.edu	37	3	9972608	9972608	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:9972608G>T	uc003bua.2	+	16	1817	c.1581G>T	c.(1579-1581)TGG>TGT	p.W527C	CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_Missense_Mutation_p.W456C|IL17RC_uc011atp.1_Missense_Mutation_p.W295C|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Missense_Mutation_p.W441C|IL17RC_uc010hct.2_Missense_Mutation_p.W456C|IL17RC_uc010hcu.2_Missense_Mutation_p.W439C|IL17RC_uc010hcv.2_Missense_Mutation_p.W424C|IL17RC_uc011atq.1_Missense_Mutation_p.W441C|IL17RC_uc003buc.2_5'UTR|IL17RC_uc003bue.2_Missense_Mutation_p.W92C|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	527	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						GAGCGCTATGGGCCTGCCCCA	0.517												
SEC13	6396	broad.mit.edu	37	3	10357042	10357042	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:10357042G>A	uc003bvn.2	-	3	246	c.127C>T	c.(127-129)CGC>TGC	p.R43C	SEC13_uc003bvl.2_5'Flank|SEC13_uc003bvm.2_Missense_Mutation_p.R29C|SEC13_uc003bvp.2_Missense_Mutation_p.R46C|SEC13_uc003bvo.2_Missense_Mutation_p.R89C|SEC13_uc003bvq.1_Missense_Mutation_p.R29C|SEC13_uc003bvr.1_Missense_Mutation_p.R29C|SEC13_uc011aul.1_Missense_Mutation_p.R43C	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1	43	WD 1.				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	p.R43H(1)		ovary(1)	1						CCTCCATTGCGCACATCAAAG	0.597												
IQSEC1	9922	broad.mit.edu	37	3	12949857	12949857	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:12949857G>A	uc003bxt.2	-	12	2798	c.2789C>T	c.(2788-2790)TCG>TTG	p.S930L	IQSEC1_uc003bxu.3_Missense_Mutation_p.S808L|IQSEC1_uc011auw.1_Missense_Mutation_p.S916L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	930					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						ACCGGCTTCCGAGAGGTCCCG	0.662												
FBLN2	2199	broad.mit.edu	37	3	13672308	13672308	+	Silent	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:13672308C>A	uc011avb.1	+	14	3062	c.2937C>A	c.(2935-2937)ACC>ACA	p.T979T	FBLN2_uc011auz.1_Silent_p.T1005T|FBLN2_uc011ava.1_Silent_p.T1026T|FBLN2_uc011avc.1_Silent_p.T1026T	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	979	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATGGGCACACCTGCACAGGTA	0.597												
FGD5	152273	broad.mit.edu	37	3	14861889	14861889	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:14861889C>T	uc003bzc.2	+	1	1421	c.1311C>T	c.(1309-1311)CCC>CCT	p.P437P	FGD5_uc011avk.1_Silent_p.P437P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	437					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						TGGGCCTGCCCGGTCAGGCGG	0.652												
FGD5	152273	broad.mit.edu	37	3	14905734	14905734	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:14905734C>T	uc003bzc.2	+	2	2735	c.2625C>T	c.(2623-2625)GAC>GAT	p.D875D	FGD5_uc011avk.1_Silent_p.D875D	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	875					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						AGGAGGAGGACAGTGCTTCAA	0.592												
STT3B	201595	broad.mit.edu	37	3	31674521	31674521	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:31674521C>T	uc011axe.1	+	15	2282	c.2282C>T	c.(2281-2283)ACA>ATA	p.T761I		NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	761					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						GAAGCCTTTACATCAGAACAC	0.398												
TRIM71	131405	broad.mit.edu	37	3	32859730	32859730	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:32859730C>G	uc003cff.2	+	1	221	c.158C>G	c.(157-159)GCG>GGG	p.A53G		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	53	RING-type.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						ggggcggcggcgcgccgccTA	0.473												
TRIM71	131405	broad.mit.edu	37	3	32932608	32932608	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:32932608G>A	uc003cff.2	+	4	1975	c.1912G>A	c.(1912-1914)GCC>ACC	p.A638T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	638					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GCCCTGCGGCGCCTTCCACCA	0.647												
DLEC1	9940	broad.mit.edu	37	3	38101313	38101313	+	Missense_Mutation	SNP	G	G	A	rs149190717	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:38101313G>A	uc003cho.1	+	3	664	c.643G>A	c.(643-645)GAT>AAT	p.D215N	DLEC1_uc003chp.1_Missense_Mutation_p.D215N|DLEC1_uc010hgv.1_Missense_Mutation_p.D215N|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	215					negative regulation of cell proliferation	cytoplasm		p.D215N(1)		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)		TTACTACACCGATACAGTGCC	0.493												
MYRIP	25924	broad.mit.edu	37	3	40251426	40251426	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:40251426C>T	uc003cka.2	+	11	1882	c.1747C>T	c.(1747-1749)CGG>TGG	p.R583W	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.R583W|MYRIP_uc010hhw.2_Missense_Mutation_p.R494W|MYRIP_uc011ayz.1_Missense_Mutation_p.R396W|uc003ckb.2_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	583	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAGGAGAAACGGAGAAACAG	0.478												
CDCP1	64866	broad.mit.edu	37	3	45132849	45132849	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:45132849G>A	uc003com.2	-	7	1944	c.1809C>T	c.(1807-1809)CGC>CGT	p.R603R		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	603	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCATGAATGCGCGCCCTGTCT	0.607												
XCR1	2829	broad.mit.edu	37	3	46063062	46063062	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:46063062G>A	uc003cpe.2	-	3	602	c.378C>T	c.(376-378)CAC>CAT	p.H126H	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Silent_p.H126H	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	126	Cytoplasmic (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGGTAGCGGTGGATGGTCA	0.602												
PRSS45	377047	broad.mit.edu	37	3	46786212	46786212	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:46786212G>A	uc010hjl.2	-	1	34	c.34C>T	c.(34-36)CGG>TGG	p.R12W	PRSS45_uc011bam.1_RNA	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	testis serine protease 5	12	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0						TTTTCCATCCGGAGGCTCACC	0.602												
SMARCC1	6599	broad.mit.edu	37	3	47779562	47779562	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:47779562C>T	uc003crq.2	-	4	558	c.440G>A	c.(439-441)CGT>CAT	p.R147H	SMARCC1_uc011bbd.1_Missense_Mutation_p.R38H	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	147					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTCCACATTACGATCCATTCG	0.323												
PLXNB1	5364	broad.mit.edu	37	3	48459679	48459679	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:48459679C>T	uc003csw.2	-	15	3413	c.3143G>A	c.(3142-3144)CGT>CAT	p.R1048H	PLXNB1_uc003csu.2_Missense_Mutation_p.R865H|PLXNB1_uc003csx.2_Missense_Mutation_p.R1048H|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_5'Flank	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1048	Extracellular (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAACGTGGACGCTCCCCCTC	0.627												
CELSR3	1951	broad.mit.edu	37	3	48686617	48686617	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:48686617C>A	uc003cul.2	-	17	6785	c.6504G>T	c.(6502-6504)CAG>CAT	p.Q2168H	CELSR3_uc003cuf.1_Missense_Mutation_p.Q2238H|CELSR3_uc010hkg.2_Missense_Mutation_p.Q151H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2168	Extracellular (Potential).				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)		CCAGCCAACCCTGGGCCTCAT	0.612												
CELSR3	1951	broad.mit.edu	37	3	48699637	48699637	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:48699637C>T	uc003cul.2	-	1	712	c.431G>A	c.(430-432)CGG>CAG	p.R144Q	CELSR3_uc003cuf.1_Missense_Mutation_p.R214Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	144	Extracellular (Potential).				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)		AGGTCCTGTCCGCCCGCAAGA	0.607												
SLC25A20	788	broad.mit.edu	37	3	48897000	48897000	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:48897000G>A	uc003cva.3	-	6	771	c.596C>T	c.(595-597)CCG>CTG	p.P199L	SLC25A20_uc011bbw.1_Missense_Mutation_p.P149L|SLC25A20_uc010hkj.2_Missense_Mutation_p.P126L	NM_000387	NP_000378	O43772	MCAT_HUMAN	carnitine/acylcarnitine translocase	199	Cytoplasmic (Potential).				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity				0				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTTTCCCTCCGGAGTGAAGAT	0.418												
BSN	8927	broad.mit.edu	37	3	49698234	49698234	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:49698234C>T	uc003cxe.3	+	6	9070	c.8956C>T	c.(8956-8958)CGC>TGC	p.R2986C		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2986					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)		TATCACACAACGCAAAGAGTC	0.557												
IP6K1	9807	broad.mit.edu	37	3	49785304	49785304	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:49785304C>T	uc003cxm.1	-	2	485	c.170G>A	c.(169-171)CGC>CAC	p.R57H	IP6K1_uc003cxn.1_Intron|IP6K1_uc011bcv.1_Intron|IP6K1_uc003cxo.2_Missense_Mutation_p.R57H	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	57					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						CTCGTAAAAGCGCTGTTCCCG	0.542												
DOCK3	1795	broad.mit.edu	37	3	51308421	51308421	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:51308421G>A	uc011bds.1	+	24	2554	c.2531G>A	c.(2530-2532)CGC>CAC	p.R844H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	844						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTGGATAGCCGCCTGTTTTCT	0.522												
IQCF1	132141	broad.mit.edu	37	3	51929286	51929286	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:51929286G>A	uc003dbv.2	-	4	336	c.238C>T	c.(238-240)CGG>TGG	p.R80W	IQCF1_uc003dbq.3_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	80	IQ 1.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGGTGCCCCGCCACCAGGCC	0.542												
ALAS1	211	broad.mit.edu	37	3	52233439	52233439	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:52233439C>A	uc003dcy.1	+	3	519	c.182C>A	c.(181-183)ACC>AAC	p.T61N	ALAS1_uc003dcx.1_Missense_Mutation_p.T61N|ALAS1_uc003dcz.1_Missense_Mutation_p.T61N|ALAS1_uc011bec.1_Missense_Mutation_p.T78N	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	61					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ATCAAAGAAACCCCTCCGGCC	0.522												
RFT1	91869	broad.mit.edu	37	3	53126488	53126488	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:53126488C>T	uc003dgj.2	-	12	1409	c.1355G>A	c.(1354-1356)CGC>CAC	p.R452H	RFT1_uc003dgk.2_Missense_Mutation_p.R413H	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	452					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		TCGGTAGTAGCGGTGGATGAA	0.587												
CHDH	55349	broad.mit.edu	37	3	53856562	53856562	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:53856562G>A	uc003dgz.2	-	4	1251	c.811C>T	c.(811-813)CGT>TGT	p.R271C		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	271					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CCCACTGCACGGGTGCCCTCA	0.647												
CACNA2D3	55799	broad.mit.edu	37	3	54914835	54914835	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:54914835G>A	uc003dhf.2	+	21	1905	c.1857G>A	c.(1855-1857)GCG>GCA	p.A619A	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.A525A|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Silent_p.A353A|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	619	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TAGGTGTGGCGCTTTCCAGAG	0.433												
ARHGEF3	50650	broad.mit.edu	37	3	56771219	56771219	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:56771219C>T	uc003dig.2	-	8	1204	c.1035G>A	c.(1033-1035)CGG>CGA	p.R345R	ARHGEF3_uc011bew.1_Silent_p.R345R|ARHGEF3_uc003dih.2_Silent_p.R377R|ARHGEF3_uc011bev.1_Silent_p.R316R|ARHGEF3_uc003dif.2_Silent_p.R351R|ARHGEF3_uc010hmy.1_Silent_p.R143R|ARHGEF3_uc003dii.2_Silent_p.R345R	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	345	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TTACCACGCCCCGATTGTTCT	0.458												
ATXN7	6314	broad.mit.edu	37	3	63938114	63938114	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:63938114G>A	uc003dlw.3	+	5	1007	c.454G>A	c.(454-456)GAC>AAC	p.D152N	ATXN7_uc003dlv.2_Missense_Mutation_p.D152N|ATXN7_uc010hnv.2_Missense_Mutation_p.D152N	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	152					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GGTGTGTAACGACTGTAATCA	0.388												
MAGI1	9223	broad.mit.edu	37	3	65342797	65342797	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:65342797G>A	uc003dmn.2	-	23	4171	c.3645C>T	c.(3643-3645)AGC>AGT	p.S1215S	MAGI1_uc003dmm.2_Missense_Mutation_p.A1273V	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1244					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CGTGGCGGTCGCTGCTGGGGT	0.642												
GPR27	2850	broad.mit.edu	37	3	71803976	71803976	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:71803976G>A	uc011bge.1	+	1	776	c.776G>A	c.(775-777)CGG>CAG	p.R259Q	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	259	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GTGGGCATccggcccgcaggg	0.572												
ROBO2	6092	broad.mit.edu	37	3	77614178	77614178	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:77614178C>T	uc003dpy.3	+	12	2399	c.1756C>T	c.(1756-1758)CGG>TGG	p.R586W	ROBO2_uc003dpz.2_Missense_Mutation_p.R590W|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R590W	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	586	Extracellular (Potential).|Fibronectin type-III 1.				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)		AAGAGGACTGCGGCCCAATAC	0.483												
ROBO1	6091	broad.mit.edu	37	3	78717036	78717036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:78717036G>A	uc003dqe.2	-	14	2171	c.1963C>T	c.(1963-1965)CAA>TAA	p.Q655*	ROBO1_uc003dqb.2_Nonsense_Mutation_p.Q616*|ROBO1_uc003dqc.2_Nonsense_Mutation_p.Q619*|ROBO1_uc003dqd.2_Nonsense_Mutation_p.Q619*|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Nonsense_Mutation_p.Q227*|ROBO1_uc003dqf.1_Nonsense_Mutation_p.Q334*	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	655	Extracellular (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TATTTACCTTGTGTTTTCACT	0.353												
GABRR3	200959	broad.mit.edu	37	3	97731224	97731224	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:97731224C>T	uc011bgr.1	-	4	494	c.494G>A	c.(493-495)CGC>CAC	p.R165H		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	165	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0						AGGGTGTACGCGCAGCATGAT	0.463												
IMPG2	50939	broad.mit.edu	37	3	101023021	101023021	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:101023021T>C	uc003duq.1	-	3	673	c.470A>G	c.(469-471)GAA>GGA	p.E157G	IMPG2_uc011bhe.1_Missense_Mutation_p.E20G	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	157	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TTCCACAGATTCACTAAAATT	0.403												
CD200R1L	344807	broad.mit.edu	37	3	112546413	112546413	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:112546413G>A	uc003dzi.1	-	3	457	c.231C>T	c.(229-231)TGC>TGT	p.C77C	CD200R1L_uc011bhw.1_Silent_p.C56C|CD200R1L_uc010hqf.1_Silent_p.C56C	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN	CD200 cell surface glycoprotein receptor 2	77	Ig-like V-type.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1						AGGCTTTTGTGCAGGAAGGCT	0.413												
CCDC52	152185	broad.mit.edu	37	3	113184616	113184616	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:113184616G>A	uc003eag.3	-	11	1462	c.1171C>T	c.(1171-1173)CGT>TGT	p.R391C	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.R287C	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	391	Potential.				cell division|mitosis	centriole|spindle	protein binding				0						ACTTCTTTACGTAGCTGGATC	0.378												
KIAA2018	205717	broad.mit.edu	37	3	113374252	113374252	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:113374252T>C	uc003eam.2	-	7	6688	c.6277A>G	c.(6277-6279)ACT>GCT	p.T2093A	KIAA2018_uc003eal.2_Missense_Mutation_p.T2037A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	2093					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						GGAGTTCGAGTGGCACTAGGC	0.443												
ZBTB20	26137	broad.mit.edu	37	3	114069778	114069778	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:114069778T>C	uc003ebi.2	-	4	1327	c.1147A>G	c.(1147-1149)ATA>GTA	p.I383V	ZBTB20_uc003ebj.2_Missense_Mutation_p.I310V|ZBTB20_uc010hqp.2_Missense_Mutation_p.I310V|ZBTB20_uc003ebk.2_Missense_Mutation_p.I310V|ZBTB20_uc003ebl.2_Missense_Mutation_p.I310V|ZBTB20_uc003ebm.2_Missense_Mutation_p.I310V|ZBTB20_uc003ebn.2_Missense_Mutation_p.I310V|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCGGTGCCTATGGAGGAGCTG	0.657												
C3orf30	152405	broad.mit.edu	37	3	118866168	118866168	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:118866168G>T	uc003ecb.1	+	1	1172	c.1132G>T	c.(1132-1134)GGC>TGC	p.G378C	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.G378C	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	378										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		TCCCCAGTTAGGCAACAGCAA	0.448												
ARHGAP31	57514	broad.mit.edu	37	3	119120866	119120866	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:119120866G>A	uc003ecj.3	+	10	1799	c.1267G>A	c.(1267-1269)GCT>ACT	p.A423T		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	423					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						TCTCCAGGGCGCTCAGGCCCG	0.622												
C3orf15	89876	broad.mit.edu	37	3	119434407	119434407	+	Splice_Site	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:119434407A>G	uc003ede.3	+	6	578	c.501_splice	c.e6-2	p.K167_splice	C3orf15_uc003edc.2_Splice_Site_p.K167_splice|C3orf15_uc010hqy.1_Splice_Site_p.K167_splice|C3orf15_uc010hqz.2_Splice_Site_p.K105_splice|C3orf15_uc011bjd.1_Splice_Site_p.K41_splice|C3orf15_uc011bje.1_Splice_Site_p.K147_splice|C3orf15_uc010hra.1_Splice_Site	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha							mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		TTTCTCTTTTAGGGCAGAACC	0.368												
UROC1	131669	broad.mit.edu	37	3	126236457	126236457	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:126236457G>T	uc003eiz.1	-	1	138	c.106C>A	c.(106-108)CTC>ATC	p.L36I	UROC1_uc010hsi.1_Missense_Mutation_p.L36I	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	36					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		ACAGGGCTGAGGCTGGGGGTC	0.682												
PLXNA1	5361	broad.mit.edu	37	3	126733584	126733584	+	Silent	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:126733584C>A	uc003ejg.2	+	13	2722	c.2718C>A	c.(2716-2718)TCC>TCA	p.S906S		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	929	IPT/TIG 1.|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)		ACGCCAGCTCCGTGCGTGCCC	0.577												
EEFSEC	60678	broad.mit.edu	37	3	128060188	128060188	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:128060188G>A	uc003eki.2	+	5	937	c.899G>A	c.(898-900)CGC>CAC	p.R300H	EEFSEC_uc003ekj.2_Missense_Mutation_p.R245H	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	300						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						CTGCTGGAGCGCGGGTTGGTG	0.597												
ASTE1	28990	broad.mit.edu	37	3	130743433	130743433	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:130743433G>A	uc003env.1	-	3	1160	c.718C>T	c.(718-720)CGT>TGT	p.R240C	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.R240C|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	240					DNA repair		nuclease activity				0						AGAGGAAGACGCGCTTTACTT	0.453												
NCK1	4690	broad.mit.edu	37	3	136664467	136664467	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:136664467C>T	uc003erh.2	+	3	376	c.269C>T	c.(268-270)GCA>GTA	p.A90V	NCK1_uc011bme.1_Missense_Mutation_p.A26V	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	90					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						CCAGATTCTGCATCTCCTGCT	0.398												
SPSB4	92369	broad.mit.edu	37	3	140785469	140785469	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:140785469G>A	uc003ett.2	+	2	777	c.523G>A	c.(523-525)GAC>AAC	p.D175N	SPSB4_uc010hum.2_Missense_Mutation_p.D175N	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	175	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						TGCGCTGCCCGACTCGCTGCT	0.667												
XRN1	54464	broad.mit.edu	37	3	142151518	142151518	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:142151518C>T	uc003eus.2	-	2	360	c.293G>A	c.(292-294)CGT>CAT	p.R98H	XRN1_uc003eut.2_Missense_Mutation_p.R98H|XRN1_uc003euu.2_Missense_Mutation_p.R98H|XRN1_uc003euw.2_Missense_Mutation_p.R98H|XRN1_uc011bnh.1_Translation_Start_Site	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	98					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						ACGCCTCCCACGCTGCTGGTT	0.338												
PLSCR1	5359	broad.mit.edu	37	3	146233845	146233845	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:146233845G>A	uc003evx.3	-	9	1332	c.944C>T	c.(943-945)TCA>TTA	p.S315L	PLSCR1_uc003evy.3_Missense_Mutation_p.S308L|PLSCR1_uc011bnn.1_Missense_Mutation_p.S234L|PLSCR1_uc003evz.3_RNA	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	315	Extracellular.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						CCACACTCCTGATTTTTGTTC	0.338												
ZIC1	7545	broad.mit.edu	37	3	147128311	147128311	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:147128311G>A	uc003ewe.2	+	1	1131	c.412G>A	c.(412-414)GCG>ACG	p.A138T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	138					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CACGGACGCCGCGGGCCACCT	0.721												
AADAC	13	broad.mit.edu	37	3	151545391	151545391	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:151545391A>G	uc003eze.2	+	5	721	c.631A>G	c.(631-633)AAA>GAA	p.K211E		NM_001086	NP_001077	P22760	AAAD_HUMAN	arylacetamide deacetylase	211	Lumenal (Potential).				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			skin(2)	2		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGTCAAGATCAAACTCAAGAT	0.313												
GFM1	85476	broad.mit.edu	37	3	158383230	158383230	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:158383230A>G	uc003fce.2	+	12	1592	c.1485A>G	c.(1483-1485)GGA>GGG	p.G495G	GFM1_uc003fcd.2_Silent_p.G495G|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.G426G	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	495					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTATATCTGGAATGGGAGAAT	0.313												
MFSD1	64747	broad.mit.edu	37	3	158541915	158541915	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:158541915T>C	uc003fcl.1	+	13	1208	c.1178T>C	c.(1177-1179)ATG>ACG	p.M393T	MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.M296T|MFSD1_uc011bow.1_Missense_Mutation_p.M354T|MFSD1_uc011box.1_Missense_Mutation_p.M320T	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	393	Helical; (Potential).				transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CATTGTAGCATGCAGTCCATT	0.368												
WDR49	151790	broad.mit.edu	37	3	167248986	167248986	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:167248986C>T	uc003fev.1	-	9	1385	c.1079G>A	c.(1078-1080)CGC>CAC	p.R360H	WDR49_uc003feu.1_Missense_Mutation_p.R185H|WDR49_uc011bpd.1_Missense_Mutation_p.R424H|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	360										large_intestine(1)|ovary(1)|skin(1)	3						CTCAAAGTTGCGGACTCCCGT	0.443												
WDR49	151790	broad.mit.edu	37	3	167277927	167277927	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:167277927G>A	uc003fev.1	-	5	882	c.576C>T	c.(574-576)AAC>AAT	p.N192N	WDR49_uc003feu.1_Silent_p.N17N|WDR49_uc011bpd.1_Silent_p.N245N|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	192	WD 4.									large_intestine(1)|ovary(1)|skin(1)	3						TGATTTCTGCGTTGCCGTGGC	0.453												
PLD1	5337	broad.mit.edu	37	3	171427481	171427481	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:171427481G>A	uc003fhs.2	-	10	1046	c.930C>T	c.(928-930)TGC>TGT	p.C310C	PLD1_uc003fht.2_Silent_p.C310C	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	310	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TATAGCTGTTGCATTTTAAAA	0.373												
SPATA16	83893	broad.mit.edu	37	3	172835263	172835263	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:172835263C>T	uc003fin.3	-	2	417	c.259G>A	c.(259-261)GAA>AAA	p.E87K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	87					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TCTTCACCTTCTGCCTTCCGT	0.378												
PIK3CA	5290	broad.mit.edu	37	3	178916891	178916891	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:178916891G>A	uc003fjk.2	+	2	435	c.278G>A	c.(277-279)CGG>CAG	p.R93Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	93	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R93W(5)|p.R93Q(3)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGTGACCTTCGGCTTTTTCAA	0.343		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PIK3CA	5290	broad.mit.edu	37	3	178936096	178936096	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:178936096G>T	uc003fjk.2	+	10	1795	c.1638G>T	c.(1636-1638)CAG>CAT	p.Q546H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	546	PI3K helical.		Q -> K (in cancer).|Q -> P (in cancer).|Q -> E (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546K(54)|p.Q546R(17)|p.Q546P(10)|p.Q546E(9)|p.Q546L(6)|p.Q546H(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCACTGAGCAGGAGAAAGATT	0.358		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PSMD2	5708	broad.mit.edu	37	3	184020259	184020259	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:184020259C>T	uc003fnn.1	+	6	839	c.806C>T	c.(805-807)GCA>GTA	p.A269V	PSMD2_uc011brj.1_Missense_Mutation_p.A110V|PSMD2_uc011brk.1_Missense_Mutation_p.A139V	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	269					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGAGATTGGCATTGATGCTC	0.488												
EPHB3	2049	broad.mit.edu	37	3	184298851	184298851	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:184298851G>A	uc003foz.2	+	14	3067	c.2630G>A	c.(2629-2631)CGG>CAG	p.R877Q		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	877	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGCTGGGTGCGGGACCGGAAC	0.597												
DNAJB11	51726	broad.mit.edu	37	3	186302256	186302256	+	Missense_Mutation	SNP	C	C	T	rs139219315		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:186302256C>T	uc003fqi.2	+	9	1110	c.890C>T	c.(889-891)GCG>GTG	p.A297V		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	297					protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGCCAGGAGCGAAGCTATGG	0.448												
PAK2	5062	broad.mit.edu	37	3	196554152	196554152	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:196554152G>A	uc003fwy.3	+	14	1758	c.1436G>A	c.(1435-1437)CGA>CAA	p.R479Q		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	479	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TTCTTAAATCGATGTTTGGAA	0.348												
DLG1	1739	broad.mit.edu	37	3	196846372	196846372	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:196846372T>C	uc003fxo.3	-	13	1484	c.1294A>G	c.(1294-1296)AGC>GGC	p.S432G	DLG1_uc011bub.1_Missense_Mutation_p.S316G|DLG1_uc011buc.1_Missense_Mutation_p.S316G|DLG1_uc011bud.1_Missense_Mutation_p.S115G|DLG1_uc003fxn.3_Missense_Mutation_p.S432G|DLG1_uc011bue.1_Missense_Mutation_p.S399G|DLG1_uc010ial.2_Missense_Mutation_p.S432G|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.S399G|DLG1_uc010ian.2_Missense_Mutation_p.S299G	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	432					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GAAGATGGGCTAACATGGTTA	0.403												
PDE6B	5158	broad.mit.edu	37	4	660390	660390	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:660390C>T	uc003gap.2	+	20	2392	c.2339C>T	c.(2338-2340)ACA>ATA	p.T780I	PDE6B_uc003gao.3_Missense_Mutation_p.T780I|PDE6B_uc011buy.1_Missense_Mutation_p.T501I|PDE6B_uc011buz.1_Missense_Mutation_p.T212I	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	780					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						TTCGTGTGCACATTCGTGTAC	0.637												
MFSD7	84179	broad.mit.edu	37	4	679630	679630	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:679630C>T	uc003gay.2	-	4	636	c.579G>A	c.(577-579)CCG>CCA	p.P193P	MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Silent_p.P193P|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Intron|MFSD7_uc003gbb.1_Silent_p.P129P	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	193	Helical; (Potential).				transmembrane transport	integral to membrane					0						TCACCATTAACGGAATGTCCT	0.587												
TMEM175	84286	broad.mit.edu	37	4	951745	951745	+	Missense_Mutation	SNP	G	G	A	rs143946130		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:951745G>A	uc003gbq.2	+	11	1074	c.976G>A	c.(976-978)GCC>ACC	p.A326T	TMEM175_uc003gbr.2_Missense_Mutation_p.A244T|TMEM175_uc003gbu.2_Missense_Mutation_p.A244T|TMEM175_uc003gbs.2_Missense_Mutation_p.A209T|TMEM175_uc003gbt.2_Missense_Mutation_p.A209T|TMEM175_uc003gbv.2_Missense_Mutation_p.A209T|TMEM175_uc010ibm.2_Missense_Mutation_p.A142T	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	326	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTGTGGTTCGCCCACCACTC	0.677												
RNF4	6047	broad.mit.edu	37	4	2515435	2515435	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:2515435C>T	uc003gfb.2	+	8	798	c.462C>T	c.(460-462)TGC>TGT	p.C154C	RNF4_uc010icj.2_Missense_Mutation_p.A101V|RNF4_uc003gfc.2_Silent_p.C154C	NM_002938	NP_002929	P78317	RNF4_HUMAN	ring finger protein 4	154	RING-type.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(65;0.241)				CCACAGAATGCGGCCATGTCT	0.507												
FAM193A	8603	broad.mit.edu	37	4	2661728	2661728	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:2661728A>G	uc010icl.2	+	8	1170	c.819A>G	c.(817-819)ACA>ACG	p.T273T	FAM193A_uc010ick.2_Silent_p.T473T|FAM193A_uc003gfd.2_Silent_p.T273T|FAM193A_uc011bvm.1_Silent_p.T297T|FAM193A_uc011bvn.1_Silent_p.T273T|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.T127T	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	273										ovary(3)	3						CTCCCATCACAATTCAGCAGC	0.532												
TBC1D14	57533	broad.mit.edu	37	4	6925428	6925428	+	Silent	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:6925428C>A	uc011bwg.1	+	2	391	c.312C>A	c.(310-312)GCC>GCA	p.A104A	TBC1D14_uc003gjs.3_Silent_p.A104A	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	104						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						TCCAGAGCGCCTGCGCGCTGC	0.662												
TADA2B	93624	broad.mit.edu	37	4	7056590	7056590	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:7056590C>A	uc003gjw.3	+	2	1223	c.1072C>A	c.(1072-1074)CTC>ATC	p.L358I	TADA2B_uc010idi.2_Missense_Mutation_p.L283I	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						CGAGAAGGTGCTCTGCAGCTC	0.537												
AFAP1	60312	broad.mit.edu	37	4	7802200	7802200	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:7802200A>G	uc003gkg.1	-	10	1508	c.1235T>C	c.(1234-1236)CTG>CCG	p.L412P	AFAP1_uc011bwk.1_Missense_Mutation_p.L412P	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	412	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						GCCGTTGCGCAGCAGCCGGAA	0.552												
FBXL5	26234	broad.mit.edu	37	4	15607351	15607351	+	Missense_Mutation	SNP	C	C	T	rs143196332		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:15607351C>T	uc003goc.1	-	11	2174	c.2071G>A	c.(2071-2073)GAA>AAA	p.E691K	FBXL5_uc010idw.1_Missense_Mutation_p.E604K|FBXL5_uc003gob.1_Missense_Mutation_p.E565K|FBXL5_uc010idx.1_Missense_Mutation_p.E690K|FBXL5_uc003god.1_Missense_Mutation_p.E674K	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	691					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0						AAGGGTCATTCGCCAGAGCGG	0.448												
ARAP2	116984	broad.mit.edu	37	4	36109211	36109211	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:36109211C>T	uc003gsq.1	-	27	4599	c.4261G>A	c.(4261-4263)GCT>ACT	p.A1421T		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1421					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATTGTGTCAGCGGTTAAGAAT	0.423												
WDR19	57728	broad.mit.edu	37	4	39274601	39274601	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:39274601T>A	uc003gtv.2	+	32	3639	c.3485T>A	c.(3484-3486)ATT>AAT	p.I1162N	WDR19_uc011byi.1_Missense_Mutation_p.I1002N|WDR19_uc003gtw.1_Missense_Mutation_p.I759N	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1162					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTGTTTCAGATTCATGTTAAA	0.418												
PHOX2B	8929	broad.mit.edu	37	4	41748145	41748145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:41748145G>T	uc003gwf.3	-	3	984	c.624C>A	c.(622-624)TGC>TGA	p.C208*		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	208					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						CATTCGCCCCGCAGCTGGGGG	0.418			Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
TMEM33	55161	broad.mit.edu	37	4	41956148	41956148	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:41956148C>T	uc003gwi.2	+	7	1041	c.676C>T	c.(676-678)CTG>TTG	p.L226L	TMEM33_uc010ifw.2_RNA	NM_018126	NP_060596	P57088	TMM33_HUMAN	transmembrane protein 33	226						integral to membrane|melanosome	protein binding			ovary(1)	1						TGCTTGCCCACTGTTTGTGAG	0.358												
CORIN	10699	broad.mit.edu	37	4	47605501	47605501	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:47605501G>A	uc003gxm.2	-	20	2818	c.2725C>T	c.(2725-2727)CGG>TGG	p.R909W	CORIN_uc011bzf.1_Missense_Mutation_p.R770W|CORIN_uc011bzg.1_Missense_Mutation_p.R842W	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	909	Extracellular (Potential).|Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						CAGACAGGCCGGACGTAGCCA	0.542												
OCIAD2	132299	broad.mit.edu	37	4	48894819	48894819	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:48894819C>T	uc003gyt.2	-	6	556	c.353G>A	c.(352-354)CGT>CAT	p.R118H	OCIAD2_uc003gyu.2_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2 isoform 1	118	OCIA.					endosome					0						ACCAGCCCCACGGAGCTGATC	0.383												
LRRC66	339977	broad.mit.edu	37	4	52861027	52861027	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:52861027C>T	uc003gzi.2	-	4	2174	c.2161G>A	c.(2161-2163)GCA>ACA	p.A721T		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	721						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TTGCTCCTTGCACTCTCTGAA	0.527												
LRRC66	339977	broad.mit.edu	37	4	52862277	52862277	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:52862277C>T	uc003gzi.2	-	4	924	c.911G>A	c.(910-912)CGC>CAC	p.R304H		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	304						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GGGAGGAAGGCGGGTTTCCCT	0.527												
FIP1L1	81608	broad.mit.edu	37	4	54319243	54319243	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:54319243G>A	uc003gzy.2	+	16	1628	c.1442G>A	c.(1441-1443)CGC>CAC	p.R481H	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Missense_Mutation_p.R475H|FIP1L1_uc003gzz.2_Missense_Mutation_p.R407H|FIP1L1_uc003hab.2_Missense_Mutation_p.R446H|FIP1L1_uc003hac.2_Missense_Mutation_p.R235H|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Missense_Mutation_p.A66T|FIP1L1_uc003hae.2_Missense_Mutation_p.A66T	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	481	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			gaaagagaACGCACCAGAGAG	0.294			T	PDGFRA	idiopathic hypereosinophilic syndrome							
CENPC1	1060	broad.mit.edu	37	4	68372572	68372572	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:68372572G>T	uc003hdd.1	-	11	2168	c.1985C>A	c.(1984-1986)ACA>AAA	p.T662K	CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.T662K	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	662					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2						TATATTACATGTATATCCACT	0.343												
CENPC1	1060	broad.mit.edu	37	4	68406764	68406764	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:68406764G>A	uc003hdd.1	-	3	253	c.70C>T	c.(70-72)CGT>TGT	p.R24C	CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.R24C	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	24					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2						TTAATGTCACGTGCCCTAATA	0.313												
TMPRSS11A	339967	broad.mit.edu	37	4	68788633	68788633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:68788633G>A	uc003hdr.1	-	7	662	c.541C>T	c.(541-543)CGA>TGA	p.R181*	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Nonsense_Mutation_p.R178*	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	181	Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1						GGAACAACTCGTTTACCACAA	0.294												
C4orf26	152816	broad.mit.edu	37	4	76489373	76489373	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:76489373C>T	uc003hip.1	+	2	152	c.117C>T	c.(115-117)GAC>GAT	p.D39D	C4orf26_uc011cbn.1_RNA|C4orf26_uc011cbo.1_Missense_Mutation_p.T54M	NM_178497	NP_848592	Q17RF5	CD026_HUMAN	hypothetical protein LOC152816 precursor	39						extracellular region					0			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATAATGCGGACGCTACCGACT	0.542												
FRAS1	80144	broad.mit.edu	37	4	79420976	79420976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:79420976C>T	uc003hlb.2	+	61	9657	c.9217C>T	c.(9217-9219)CAG>TAG	p.Q3073*	FRAS1_uc003hlc.1_Nonsense_Mutation_p.Q75*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3068	Calx-beta 5.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CAGAGGGGATCAGAACAGGAC	0.562												
BMP3	651	broad.mit.edu	37	4	81967532	81967532	+	Missense_Mutation	SNP	G	G	T	rs61729827	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:81967532G>T	uc003hmg.3	+	2	1277	c.957G>T	c.(955-957)AAG>AAT	p.K319N		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	319					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						AGGAGAGAAAGCCTTACAAGA	0.502												
PRKG2	5593	broad.mit.edu	37	4	82031710	82031710	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:82031710C>T	uc003hmh.2	-	14	1846	c.1832G>A	c.(1831-1833)TGT>TAT	p.C611Y	PRKG2_uc011ccf.1_Missense_Mutation_p.C191Y|PRKG2_uc011ccg.1_Missense_Mutation_p.C191Y|PRKG2_uc011cch.1_Missense_Mutation_p.C582Y	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	611	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						TGGAGTCCCACAGAATGTCCA	0.413												
LIN54	132660	broad.mit.edu	37	4	83891596	83891596	+	Missense_Mutation	SNP	C	C	T	rs149250571		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:83891596C>T	uc003hnx.3	-	4	1213	c.835G>A	c.(835-837)GGA>AGA	p.G279R	LIN54_uc003hnz.3_Missense_Mutation_p.G58R|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Intron|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Missense_Mutation_p.G58R	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	279					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				GATGGAGTTCCGGGAGTAGAC	0.358												
LIN54	132660	broad.mit.edu	37	4	83905318	83905318	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:83905318A>G	uc003hnx.3	-	2	1058	c.680T>C	c.(679-681)GTA>GCA	p.V227A	LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Missense_Mutation_p.V227A|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	227					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				TTTTACCTGTACTGTTTTTAA	0.353												
HPSE	10855	broad.mit.edu	37	4	84222192	84222192	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:84222192G>A	uc003hoj.3	-	11	1492	c.1393C>T	c.(1393-1395)CGG>TGG	p.R465W	HPSE_uc010ika.2_Missense_Mutation_p.R407W|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.R208W|HPSE_uc011cct.1_Missense_Mutation_p.R391W|HPSE_uc003hok.3_Missense_Mutation_p.R465W	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	465					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TAGGGTAACCGCAAGTACTTG	0.353												
HSD17B11	51170	broad.mit.edu	37	4	88258505	88258505	+	Missense_Mutation	SNP	G	G	A	rs148948833	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:88258505G>A	uc003hqp.2	-	7	1059	c.826C>T	c.(826-828)CGT>TGT	p.R276C		NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN	estradiol 17-beta-dehydrogenase 11	276					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			ovary(2)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		GCCAGGAAACGCTCAGGAAGG	0.294												
HERC6	55008	broad.mit.edu	37	4	89326069	89326069	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:89326069A>C	uc011cdi.1	+	9	1317	c.1134A>C	c.(1132-1134)GAA>GAC	p.E378D	HERC6_uc011cdj.1_Missense_Mutation_p.E378D|HERC6_uc011cdk.1_Intron|HERC6_uc011cdl.1_Intron	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	378					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)		CCCTGCCAGAAATAAGCCGAA	0.423												
BMPR1B	658	broad.mit.edu	37	4	96069948	96069948	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:96069948C>T	uc003htm.3	+	11	1400	c.1126C>T	c.(1126-1128)CGC>TGC	p.R376C	BMPR1B_uc010ilb.2_Missense_Mutation_p.R376C|BMPR1B_uc003htn.3_Missense_Mutation_p.R376C	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	376	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TGGCACCAAACGCTATATGCC	0.418												
UNC5C	8633	broad.mit.edu	37	4	96469892	96469892	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:96469892G>A	uc003htp.1	-	1	271	c.117C>T	c.(115-117)GCC>GCT	p.A39A	UNC5C_uc010ilc.1_Silent_p.A39A|UNC5C_uc003htq.2_Silent_p.A39A	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	39					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TACCTTGGGCGGCGGAGCCAG	0.527												
SLC39A8	64116	broad.mit.edu	37	4	103189153	103189153	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:103189153C>T	uc003hwb.1	-	6	1453	c.924G>A	c.(922-924)ACG>ACA	p.T308T	SLC39A8_uc011ceo.1_Silent_p.T308T|SLC39A8_uc003hwa.1_Silent_p.T241T|SLC39A8_uc003hwc.2_Silent_p.T308T	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter),	308	Helical; (Potential).					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CATCGCAGAGCGTTATCATCC	0.478												
CFI	3426	broad.mit.edu	37	4	110667424	110667424	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:110667424G>A	uc003hzr.3	-	11	1591	c.1383C>T	c.(1381-1383)TTC>TTT	p.F461F	CFI_uc003hzq.2_Silent_p.F258F|CFI_uc011cft.1_Silent_p.F469F|CFI_uc003hzs.3_Silent_p.F454F	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	461	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CATTAGGTTGGAATAGGTAAG	0.413												
EGF	1950	broad.mit.edu	37	4	110882030	110882030	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:110882030T>C	uc003hzy.3	+	7	1526	c.1074T>C	c.(1072-1074)AAT>AAC	p.N358N	EGF_uc011cfu.1_Silent_p.N316N|EGF_uc011cfv.1_Silent_p.N358N	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	358	EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CAGATGTTAATGAATGTGCTT	0.398												
ALPK1	80216	broad.mit.edu	37	4	113351824	113351824	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:113351824C>T	uc003iap.3	+	11	1400	c.1121C>T	c.(1120-1122)ACG>ATG	p.T374M	ALPK1_uc003ian.3_Missense_Mutation_p.T374M|ALPK1_uc011cfx.1_Missense_Mutation_p.T296M|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.T202M	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	374							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GAGACAGGGACGGTCCATGCA	0.507												
ANK2	287	broad.mit.edu	37	4	114199668	114199668	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:114199668C>T	uc003ibe.3	+	17	1935	c.1835C>T	c.(1834-1836)GCG>GTG	p.A612V	ANK2_uc003ibd.3_Missense_Mutation_p.A591V|ANK2_uc003ibf.3_Missense_Mutation_p.A612V|ANK2_uc003ibc.2_Missense_Mutation_p.A588V|ANK2_uc011cgb.1_Missense_Mutation_p.A627V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	612	ANK 18.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGAAGGTGGCGCTGCTGTTA	0.478											OREG0016024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADAD1	132612	broad.mit.edu	37	4	123342458	123342458	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:123342458T>C	uc003ieo.2	+	12	1762	c.1530T>C	c.(1528-1530)TGT>TGC	p.C510C	ADAD1_uc003iep.2_Silent_p.C499C|ADAD1_uc003ieq.2_Silent_p.C492C	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	510	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						GTCGGCTTTGTAAGGCTGCAA	0.343												
BBS12	166379	broad.mit.edu	37	4	123663986	123663986	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:123663986A>G	uc003ieu.2	+	2	1132	c.939A>G	c.(937-939)TCA>TCG	p.S313S		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	313					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						TTGACATTTCAAGAATTTTCA	0.383									Bardet-Biedl_syndrome			
PCDH10	57575	broad.mit.edu	37	4	134071394	134071394	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:134071394C>T	uc003iha.2	+	1	925	c.99C>T	c.(97-99)TTC>TTT	p.F33F	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.F33F	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	33	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ATGGCACTTTCGTGGGGAATA	0.498												
PCDH10	57575	broad.mit.edu	37	4	134073108	134073108	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:134073108G>A	uc003iha.2	+	1	2639	c.1813G>A	c.(1813-1815)GCC>ACC	p.A605T	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A605T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	605	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CCGCGTGGCCGCCGTGGACGC	0.692												
USP38	84640	broad.mit.edu	37	4	144107096	144107096	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:144107096A>G	uc003ijb.2	+	1	1027	c.493A>G	c.(493-495)ATC>GTC	p.I165V	USP38_uc003ija.3_Missense_Mutation_p.I165V|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	165					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					GAAATTGTCCATCACGTTCTG	0.552												
USP38	84640	broad.mit.edu	37	4	144141531	144141531	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:144141531C>T	uc003ijb.2	+	10	3585	c.3051C>T	c.(3049-3051)AAC>AAT	p.N1017N	USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	1017					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					TTGATGACAACGACCCACCAG	0.478												
SMARCA5	8467	broad.mit.edu	37	4	144467126	144467126	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:144467126G>A	uc003ijg.2	+	19	2908	c.2446G>A	c.(2446-2448)GAA>AAA	p.E816K		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	816					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)					ACAAAAAGAAGAACAGCTTAA	0.358												
HHIP	64399	broad.mit.edu	37	4	145567864	145567864	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:145567864G>C	uc003ijs.1	+	1	692	c.37G>C	c.(37-39)GCC>CCC	p.A13P	uc003ijq.1_5'Flank|HHIP_uc003ijr.1_Missense_Mutation_p.A13P	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	13						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCTGCTGCTGGCCGTGGCTCT	0.612											OREG0016346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DCLK2	166614	broad.mit.edu	37	4	151119187	151119187	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:151119187C>A	uc003ilm.3	+	4	993	c.893C>A	c.(892-894)TCC>TAC	p.S298Y	DCLK2_uc003iln.3_Missense_Mutation_p.S298Y|DCLK2_uc003ilo.3_Missense_Mutation_p.S298Y|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	298	Ser-rich.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					TATTCTCGATCCTCAGCTGTT	0.408												
LRBA	987	broad.mit.edu	37	4	151770151	151770151	+	Splice_Site	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:151770151C>T	uc010ipj.2	-	26	4633	c.4159_splice	c.e26-1	p.H1387_splice	LRBA_uc003ilt.3_Splice_Site_p.H46_splice|LRBA_uc003ilu.3_Splice_Site_p.H1387_splice	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and							endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CCAGTTCATGCTGTAAAGAAT	0.299												
KIAA0922	23240	broad.mit.edu	37	4	154502038	154502038	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:154502038G>A	uc003inm.3	+	8	773	c.721G>A	c.(721-723)GTG>ATG	p.V241M	KIAA0922_uc010ipp.2_Missense_Mutation_p.V241M|KIAA0922_uc010ipq.2_Missense_Mutation_p.V93M	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	241	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ACATAATAAAGTGTGTCAGCA	0.313												
FGB	2244	broad.mit.edu	37	4	155490691	155490691	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:155490691A>C	uc003ioa.3	+	7	1023	c.984A>C	c.(982-984)AAA>AAC	p.K328N	FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.K266N|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.K109N	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	328	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAAATGATAAAATTAGCCAGC	0.363												
FSTL5	56884	broad.mit.edu	37	4	162402250	162402250	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:162402250T>G	uc003iqh.2	-	13	1966	c.1530A>C	c.(1528-1530)AAA>AAC	p.K510N	FSTL5_uc003iqi.2_Missense_Mutation_p.K509N|FSTL5_uc010iqv.2_Missense_Mutation_p.K500N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	510						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGAACTTGTCTTTGACATTAA	0.383												
DDX60L	91351	broad.mit.edu	37	4	169337880	169337880	+	Silent	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:169337880G>T	uc003irq.3	-	20	2900	c.2679C>A	c.(2677-2679)CCC>CCA	p.P893P	DDX60L_uc003irr.1_Silent_p.P893P|DDX60L_uc003irs.1_Silent_p.P588P	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	893	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAACCAAAAAGGGACATCGAA	0.343												
NEIL3	55247	broad.mit.edu	37	4	178283483	178283483	+	Missense_Mutation	SNP	G	G	A	rs149552701	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:178283483G>A	uc003iut.2	+	10	1793	c.1676G>A	c.(1675-1677)CGT>CAT	p.R559H		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	559					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CATGGCAAGCGTTCCACCATG	0.378								BER_DNA_glycosylases				
HELT	391723	broad.mit.edu	37	4	185941544	185941544	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:185941544C>T	uc011ckq.1	+	4	602	c.602C>T	c.(601-603)GCG>GTG	p.A201V	HELT_uc011cko.1_Missense_Mutation_p.A116V|HELT_uc003ixa.3_Missense_Mutation_p.A115V|HELT_uc011ckp.1_Missense_Mutation_p.A59V	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	201	Orange.						DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACGAAGTACGCGCGCATCCTC	0.612												
TRIML2	205860	broad.mit.edu	37	4	189012847	189012847	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:189012847C>T	uc003izl.2	-	7	880	c.844G>A	c.(844-846)GCC>ACC	p.A282T	TRIML2_uc003izj.1_Missense_Mutation_p.A110T|TRIML2_uc003izk.1_Missense_Mutation_p.A90T|TRIML2_uc011cle.1_Missense_Mutation_p.A357T	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	282	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GAAGCTCTGGCCGTGCTGCCC	0.597												
BRD9	65980	broad.mit.edu	37	5	884073	884073	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:884073G>A	uc003jbq.2	-	8	1113	c.946C>T	c.(946-948)CGG>TGG	p.R316W	BRD9_uc003jbl.2_Missense_Mutation_p.R200W|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Missense_Mutation_p.R263W|BRD9_uc003jbo.2_Missense_Mutation_p.R220W|BRD9_uc003jbp.2_5'Flank|BRD9_uc011cmc.1_RNA	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	bromodomain containing 9 isoform 1	316							nucleic acid binding				0			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GGGAGGAACCGGTTGATCCTG	0.637												
SLC12A7	10723	broad.mit.edu	37	5	1076892	1076892	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:1076892C>T	uc003jbu.2	-	13	1731	c.1665G>A	c.(1663-1665)ACG>ACA	p.T555T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	555	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGCGCCCACGTGGGCTCCC	0.632												
SLC12A7	10723	broad.mit.edu	37	5	1081834	1081834	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:1081834G>A	uc003jbu.2	-	9	1221	c.1155C>T	c.(1153-1155)CAC>CAT	p.H385H		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	385					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGCCCCCGCGTGCGCGTACG	0.667												
IRX1	79192	broad.mit.edu	37	5	3599423	3599423	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:3599423G>A	uc003jde.2	+	2	413	c.361G>A	c.(361-363)GGC>AGC	p.G121S		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						TTACCCCTACGGCCAGTTCCA	0.652												
KIAA0947	23379	broad.mit.edu	37	5	5462807	5462807	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:5462807C>T	uc003jdm.3	+	13	3582	c.3360C>T	c.(3358-3360)AGC>AGT	p.S1120S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1120										ovary(1)|central_nervous_system(1)	2						GTGAGGGGAGCGAACAGCAAG	0.498												
CDH9	1007	broad.mit.edu	37	5	26885740	26885740	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:26885740C>T	uc003jgs.1	-	11	2034	c.1865G>A	c.(1864-1866)TGT>TAT	p.C622Y	CDH9_uc011cnv.1_Missense_Mutation_p.C215Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	622	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TATGAGGACACAGAGTAGAAT	0.493												
NIPBL	25836	broad.mit.edu	37	5	37045566	37045566	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:37045566G>A	uc003jkl.3	+	37	6864	c.6365G>A	c.(6364-6366)AGT>AAT	p.S2122N	NIPBL_uc003jkk.3_Missense_Mutation_p.S2122N	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2122					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAATTAAAAAGTCAACACCAA	0.308												
EGFLAM	133584	broad.mit.edu	37	5	38350644	38350644	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:38350644T>C	uc003jlc.1	+	4	657	c.333T>C	c.(331-333)CGT>CGC	p.R111R	EGFLAM_uc003jlb.1_Silent_p.R111R	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	111	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					CTGAATATCGTGTGAGCATAG	0.453												
PLCXD3	345557	broad.mit.edu	37	5	41382192	41382192	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:41382192T>C	uc003jmm.1	-	2	650	c.548A>G	c.(547-549)TAC>TGC	p.Y183C		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	183	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						CTCCCACAGGTACTTTAAACT	0.468												
MGC42105	167359	broad.mit.edu	37	5	43280659	43280659	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:43280659G>A	uc003jno.2	+	4	2020	c.1139G>A	c.(1138-1140)CGC>CAC	p.R380H		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	380							ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						AGAGATGCTCGCAGCTCAATC	0.418												
FGF10	2255	broad.mit.edu	37	5	44388639	44388639	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:44388639G>A	uc003jog.1	-	1	146	c.146C>T	c.(145-147)GCC>GTC	p.A49V		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	49					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					AGAGTTGGTGGCCTCTGGTGA	0.572												
HCN1	348980	broad.mit.edu	37	5	45645327	45645327	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:45645327C>T	uc003jok.2	-	2	834	c.809G>A	c.(808-810)CGA>CAA	p.R270Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	270	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CCTTGAAAGTCGTAATAAACG	0.328												
PARP8	79668	broad.mit.edu	37	5	50059056	50059056	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:50059056G>A	uc003jon.3	+	8	680	c.498G>A	c.(496-498)GGG>GGA	p.G166G	PARP8_uc011cpz.1_Silent_p.G58G|PARP8_uc003joo.2_Silent_p.G166G|PARP8_uc003jop.2_Silent_p.G166G	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	166						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				AGATATATGGGCCACATGCAG	0.353												
IL6ST	3572	broad.mit.edu	37	5	55247315	55247315	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:55247315A>G	uc003jqq.2	-	14	2072	c.1817T>C	c.(1816-1818)TTC>TCC	p.F606S	IL6ST_uc010iwb.2_Missense_Mutation_p.F545S|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.F317S|IL6ST_uc003jqr.2_3'UTR|IL6ST_uc010iwe.1_RNA	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	606	Extracellular (Potential).|Fibronectin type-III 5.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTAAAAGTGAATTCTGGACC	0.358			O		hepatocellular ca							
DEPDC1B	55789	broad.mit.edu	37	5	59982801	59982801	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:59982801C>T	uc003jsh.2	-	2	375	c.302G>A	c.(301-303)CGT>CAT	p.R101H	DEPDC1B_uc011cqm.1_Missense_Mutation_p.R101H|DEPDC1B_uc011cqn.1_Missense_Mutation_p.R74H	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	101	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GTATAAGTGACGATTGTCTTC	0.428												
MAST4	375449	broad.mit.edu	37	5	66430427	66430427	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:66430427C>T	uc003jut.1	+	17	1804	c.1736C>T	c.(1735-1737)GCC>GTC	p.A579V	MAST4_uc003juu.1_Missense_Mutation_p.A589V|MAST4_uc011cra.1_Missense_Mutation_p.A562V|MAST4_uc003juv.2_Missense_Mutation_p.A574V|MAST4_uc003juw.2_Missense_Mutation_p.A574V	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	771	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GACTGGTGGGCCATGGGGATT	0.448												
MAP1B	4131	broad.mit.edu	37	5	71491610	71491610	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:71491610G>A	uc003kbw.3	+	5	2669	c.2428G>A	c.(2428-2430)GCG>ACG	p.A810T	MAP1B_uc010iyw.1_Missense_Mutation_p.A827T|MAP1B_uc010iyx.1_Missense_Mutation_p.A684T|MAP1B_uc010iyy.1_Missense_Mutation_p.A684T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	810						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)		AGCTGTCATGGCGGCAGCTGG	0.527												
ZNF366	167465	broad.mit.edu	37	5	71756601	71756601	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:71756601G>A	uc003kce.1	-	2	909	c.723C>T	c.(721-723)AGC>AGT	p.S241S		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCACGTAGTAGCTGTCATCGA	0.637												
POLK	51426	broad.mit.edu	37	5	74892070	74892070	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:74892070A>G	uc003kdw.2	+	13	1648	c.1552A>G	c.(1552-1554)AAT>GAT	p.N518D	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.N320D|POLK_uc003kec.2_Missense_Mutation_p.N428D|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.N428D	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	518					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TAGTTTTCCCAATGAAGAGGA	0.373								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
ZFYVE16	9765	broad.mit.edu	37	5	79734068	79734068	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:79734068G>A	uc003kgr.3	+	4	1866	c.1564G>A	c.(1564-1566)GCA>ACA	p.A522T	ZFYVE16_uc010jak.1_Missense_Mutation_p.A522T|ZFYVE16_uc003kgp.2_Missense_Mutation_p.A522T|ZFYVE16_uc003kgq.3_Missense_Mutation_p.A522T|ZFYVE16_uc003kgs.3_Missense_Mutation_p.A522T	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	522					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGATGAAGGCGCAAAAAGTGG	0.353												
XRCC4	7518	broad.mit.edu	37	5	82491728	82491728	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:82491728T>C	uc003kib.2	+	4	583	c.455T>C	c.(454-456)CTG>CCG	p.L152P	XRCC4_uc003kia.1_Missense_Mutation_p.L152P|XRCC4_uc003kid.2_Missense_Mutation_p.L152P|XRCC4_uc003kic.2_Missense_Mutation_p.L152P|XRCC4_uc003kie.2_Missense_Mutation_p.L152P|XRCC4_uc003kif.1_Missense_Mutation_p.L152P	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	152	Potential.				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		GAAAGGCTTCTGAGAGATTGG	0.378								NHEJ				
HAPLN1	1404	broad.mit.edu	37	5	82937478	82937478	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:82937478T>C	uc003kim.2	-	4	973	c.902A>G	c.(901-903)TAT>TGT	p.Y301C	HAPLN1_uc003kin.2_Missense_Mutation_p.Y301C	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	301	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)|skin(1)	5		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ACAGCGGTCATATCCGAGAAT	0.547												
GPR98	84059	broad.mit.edu	37	5	89990228	89990228	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:89990228C>T	uc003kju.2	+	33	7751	c.7655C>T	c.(7654-7656)GCC>GTC	p.A2552V	GPR98_uc003kjt.2_Missense_Mutation_p.A258V|GPR98_uc003kjv.2_Missense_Mutation_p.A152V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2552	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACATTTCAGCCAGTTTGAAA	0.383												
ARRDC3	57561	broad.mit.edu	37	5	90672541	90672541	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:90672541T>C	uc003kjz.2	-	3	647	c.407A>G	c.(406-408)TAT>TGT	p.Y136C		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	136					signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TTTCACCCAATAGCGCACACT	0.388												
RHOBTB3	22836	broad.mit.edu	37	5	95119538	95119538	+	Silent	SNP	C	C	T	rs150008155		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:95119538C>T	uc003klm.2	+	10	2031	c.1494C>T	c.(1492-1494)GCC>GCT	p.A498A		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	498	Interaction with Rab9.			A->T: Abolishes interaction with RAB9A.	retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TGATCTGTGCCGAGATGTACC	0.473												
SLCO6A1	133482	broad.mit.edu	37	5	101834536	101834536	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:101834536C>T	uc003knn.2	-	1	185	c.13G>A	c.(13-15)GTC>ATC	p.V5I	SLCO6A1_uc003kno.2_Missense_Mutation_p.V5I|SLCO6A1_uc003knp.2_Missense_Mutation_p.V5I|SLCO6A1_uc003knq.2_Missense_Mutation_p.V5I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	5	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGCCGGGCGACGCCTACGAAC	0.701												
SLC25A46	91137	broad.mit.edu	37	5	110096961	110096961	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:110096961A>G	uc003koz.2	+	8	803	c.736A>G	c.(736-738)AGA>GGA	p.R246G	SLC25A46_uc011cvi.1_Missense_Mutation_p.R155G	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	246					transport	integral to membrane|mitochondrial inner membrane					0		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGGAATTGGAAGAGTGATAGG	0.378												
COMMD10	51397	broad.mit.edu	37	5	115426820	115426820	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:115426820G>A	uc003krt.1	+	3	200	c.177G>A	c.(175-177)GCG>GCA	p.A59A		NM_016144	NP_057228	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	59							protein binding			ovary(1)	1		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		AACTTCAAGCGGCATTTTCTC	0.313												
DMXL1	1657	broad.mit.edu	37	5	118500337	118500337	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:118500337G>A	uc003ksd.2	+	20	5019	c.4838G>A	c.(4837-4839)CGG>CAG	p.R1613Q	DMXL1_uc010jcl.1_Missense_Mutation_p.R1613Q	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1613										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGGTGGGTCCGGAATACCCGC	0.408												
FBN2	2201	broad.mit.edu	37	5	127681104	127681104	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:127681104G>A	uc003kuu.2	-	24	3601	c.3162C>T	c.(3160-3162)CGC>CGT	p.R1054R	FBN2_uc003kuv.2_Silent_p.R1021R	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1054					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCCAGCCCCGCGGGGGCACA	0.617												
C5orf20	140947	broad.mit.edu	37	5	134782379	134782379	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:134782379C>T	uc003lav.2	-	1	660	c.420G>A	c.(418-420)CCG>CCA	p.P140P		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	dendritic cell nuclear protein 1	140						nucleus					0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACTGTGAACGGGTAGAGTC	0.517												
KIF20A	10112	broad.mit.edu	37	5	137520324	137520324	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:137520324G>A	uc003lcj.2	+	13	2138	c.1642G>A	c.(1642-1644)GAT>AAT	p.D548N	KIF20A_uc011cyo.1_Missense_Mutation_p.D530N	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	548					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCTTGATGATGATATTGAAAA	0.448												
PCDHA9	9752	broad.mit.edu	37	5	140229215	140229215	+	Missense_Mutation	SNP	G	G	A	rs151053430	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140229215G>A	uc003lhu.2	+	1	1859	c.1135G>A	c.(1135-1137)GCA>ACA	p.A379T	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_uc003lht.1_Missense_Mutation_p.A379T	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	379	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCTAGACGCAGATGCCAA	0.532												
PCDHA10	56139	broad.mit.edu	37	5	140237471	140237471	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140237471C>T	uc003lhx.2	+	1	1838	c.1838C>T	c.(1837-1839)GCG>GTG	p.A613V	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_uc011dad.1_Missense_Mutation_p.A613V	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	613	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCAGTCGGCGGCGGTTGGT	0.642												
PCDHAC2	56134	broad.mit.edu	37	5	140346986	140346986	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140346986G>A	uc003lii.2	+	1	875	c.635G>A	c.(634-636)CGT>CAT	p.R212H	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_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.R212H	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	212	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCTGCGTAAGGGCCTA	0.617												
PCDHB8	56128	broad.mit.edu	37	5	140559234	140559234	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140559234C>T	uc011dai.1	+	1	1805	c.1619C>T	c.(1618-1620)CCG>CTG	p.P540L	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	540	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGGCTCCCCGGCTTTGAGC	0.672												
PCDHB9	56127	broad.mit.edu	37	5	140567405	140567405	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140567405G>A	uc003liw.1	+	1	513	c.513G>A	c.(511-513)ACG>ACA	p.T171T		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	171	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAACTACACGATCAGCTCCA	0.408												
PCDHB12	56124	broad.mit.edu	37	5	140589805	140589805	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140589805C>T	uc003liz.2	+	1	1515	c.1326C>T	c.(1324-1326)TCC>TCT	p.S442S	PCDHB12_uc011dak.1_Silent_p.S105S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	442	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCTCCGACGTCAATG	0.597												
PCDHGA5	56110	broad.mit.edu	37	5	140743963	140743963	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140743963G>A	uc003lju.1	+	1	66	c.66G>A	c.(64-66)ACG>ACA	p.T22T	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_uc011das.1_Silent_p.T22T	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	22					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGGGACGCTGTGCGAGC	0.617												
PCDHGA5	56110	broad.mit.edu	37	5	140745966	140745966	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140745966C>T	uc003lju.1	+	1	2069	c.2069C>T	c.(2068-2070)ACA>ATA	p.T690I	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_uc011das.1_Missense_Mutation_p.T690I	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	690	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGACCTCACACTCTATCTT	0.597												
PCDHGA7	56108	broad.mit.edu	37	5	140763024	140763024	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140763024C>T	uc003lka.1	+	1	558	c.558C>T	c.(556-558)GAC>GAT	p.D186D	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_uc003ljz.1_Silent_p.D186D	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	186	Extracellular (Potential).|Cadherin 2.				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)			AAAGTGGAGACGATGAAACTA	0.612												
PCDHGA7	56108	broad.mit.edu	37	5	140763850	140763850	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140763850G>A	uc003lka.1	+	1	1384	c.1384G>A	c.(1384-1386)GCT>ACT	p.A462T	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_uc003ljz.1_Missense_Mutation_p.A462T	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	462	Extracellular (Potential).|Cadherin 5.				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)			AGTCTACATCGCTGAGAACAA	0.522												
PCDHGB5	56101	broad.mit.edu	37	5	140779486	140779486	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140779486G>A	uc003lkf.1	+	1	1792	c.1792G>A	c.(1792-1794)GCC>ACC	p.A598T	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_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.A598T	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	598	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACACAACGCCTGGCTGTC	0.677												
SH3TC2	79628	broad.mit.edu	37	5	148407373	148407373	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:148407373C>T	uc003lpu.2	-	11	2074	c.1922G>A	c.(1921-1923)CGC>CAC	p.R641H	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.R285H|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.R188H|SH3TC2_uc010jgx.2_Missense_Mutation_p.R634H|SH3TC2_uc003lpv.1_Missense_Mutation_p.R188H|SH3TC2_uc011dbz.1_Missense_Mutation_p.R526H	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	641							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGCAAGCGGATGGCCAG	0.667												
FAT2	2196	broad.mit.edu	37	5	150905459	150905459	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:150905459C>G	uc003lue.3	-	17	10389	c.10376G>C	c.(10375-10377)GGC>GCC	p.G3459A	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.G152A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3459	Extracellular (Potential).|Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAGGGGGGGCCATTCTCTGG	0.577												
NIPAL4	348938	broad.mit.edu	37	5	156899809	156899809	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:156899809C>T	uc003lwx.3	+	6	1358	c.1242C>T	c.(1240-1242)TGC>TGT	p.C414C	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Silent_p.C395C	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	414	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						ACATCAGCTGCGCCAGCTTGC	0.542												
TLX3	30012	broad.mit.edu	37	5	170736618	170736618	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:170736618G>A	uc003mbf.2	+	1	331	c.249G>A	c.(247-249)GCG>GCA	p.A83A	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	83						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAGCCTAGCGCCCGCAGGCG	0.741			T	BCL11B	T-ALL							
LMAN2	10960	broad.mit.edu	37	5	176759221	176759221	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:176759221A>C	uc003mge.2	-	8	1174	c.937T>G	c.(937-939)TTC>GTC	p.F313V	LMAN2_uc003mgd.2_Silent_p.T320T	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	313	Lumenal (Potential).				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTGCGGAAGTTCCCCGTG	0.697												
DBN1	1627	broad.mit.edu	37	5	176886118	176886118	+	Silent	SNP	C	C	T	rs139033012		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:176886118C>T	uc003mgy.2	-	11	1279	c.1107G>A	c.(1105-1107)CCG>CCA	p.P369P	DBN1_uc011dga.1_Silent_p.P101P|DBN1_uc003mgx.2_Silent_p.P371P|DBN1_uc010jkn.1_Silent_p.P319P|DBN1_uc003mgz.1_Silent_p.P352P	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	369					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			GTGGGGGTGGCGGTGGCAGTG	0.662												
TBC1D9B	23061	broad.mit.edu	37	5	179315143	179315143	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:179315143A>G	uc003mlh.2	-	7	1251	c.1214T>C	c.(1213-1215)ATC>ACC	p.I405T	TBC1D9B_uc003mli.2_Missense_Mutation_p.I405T|TBC1D9B_uc003mlj.2_Missense_Mutation_p.I405T	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	405						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCTCCCGATACTGCCTGG	0.547												
MGAT1	4245	broad.mit.edu	37	5	180219454	180219454	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:180219454G>A	uc003mmg.3	-	2	1013	c.518C>T	c.(517-519)CCG>CTG	p.P173L	MGAT1_uc010jlf.2_Missense_Mutation_p.P173L|MGAT1_uc010jlg.2_Missense_Mutation_p.P173L|MGAT1_uc003mmh.3_Missense_Mutation_p.P173L|MGAT1_uc010jlh.2_Missense_Mutation_p.P173L|MGAT1_uc003mmi.3_Missense_Mutation_p.P173L	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	173	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGTCCGGCGGCACCGCAAT	0.701												
NQO2	4835	broad.mit.edu	37	6	3017128	3017128	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:3017128C>T	uc003mus.2	+	6	766	c.428C>T	c.(427-429)GCG>GTG	p.A143V	NQO2_uc003mut.2_Missense_Mutation_p.A143V	NM_000904	NP_000895	P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	143						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			ovary(1)	1	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	GGTAAACTAGCGCTCCTTTCC	0.547												
BPHL	670	broad.mit.edu	37	6	3137678	3137678	+	Silent	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:3137678C>A	uc003mva.2	+	5	664	c.615C>A	c.(613-615)ACC>ACA	p.T205T	BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Silent_p.T188T	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like precursor	205					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity				0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TTGCCAGAACCTGTGAAAAGT	0.468												
NRN1	51299	broad.mit.edu	37	6	5999288	5999288	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:5999288G>A	uc003mwu.2	-	3	1001	c.350C>T	c.(349-351)GCG>GTG	p.A117V	NRN1_uc003mwt.2_Missense_Mutation_p.A143V	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	neuritin precursor	117						anchored to membrane|plasma membrane					0	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		GGACCCCGCCGCCCCGTTGCC	0.602												
NEDD9	4739	broad.mit.edu	37	6	11191156	11191156	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:11191156C>T	uc003mzv.2	-	5	1113	c.946G>A	c.(946-948)GCA>ACA	p.A316T	NEDD9_uc010joz.2_Missense_Mutation_p.A316T|NEDD9_uc003mzw.3_Missense_Mutation_p.A170T	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	316					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			ACATCATATGCGTCGTTCTGA	0.572												
PHACTR1	221692	broad.mit.edu	37	6	13160486	13160486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:13160486C>T	uc010jpc.2	+	6	798	c.466C>T	c.(466-468)CGA>TGA	p.R156*	PHACTR1_uc011dir.1_Nonsense_Mutation_p.R156*|PHACTR1_uc003nag.1_Nonsense_Mutation_p.R156*|PHACTR1_uc003nah.1_Nonsense_Mutation_p.R156*	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	156	RPEL 1.					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCTGATAAAGCGAGGAGTCCT	0.443												
RANBP9	10048	broad.mit.edu	37	6	13644899	13644899	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:13644899C>T	uc003nbb.2	-	6	1049	c.990G>A	c.(988-990)GGG>GGA	p.G330G	RANBP9_uc003nba.2_5'UTR	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	330	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			AAGGATGTTGCCCAAAATTGG	0.418												
ATXN1	6310	broad.mit.edu	37	6	16327924	16327924	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:16327924C>A	uc003nbt.2	-	8	1589	c.618G>T	c.(616-618)CAG>CAT	p.Q206H	ATXN1_uc010jpi.2_Missense_Mutation_p.Q206H|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	206	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gatgctgctgctgctgctgct	0.373												
FAM65B	9750	broad.mit.edu	37	6	24843662	24843662	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:24843662A>G	uc003neo.1	-	14	1524	c.1348T>C	c.(1348-1350)TCC>CCC	p.S450P	FAM65B_uc011djs.1_Missense_Mutation_p.S429P|FAM65B_uc011dju.1_Missense_Mutation_p.S434P|FAM65B_uc003nep.2_Missense_Mutation_p.S400P|FAM65B_uc011djt.1_Missense_Mutation_p.S400P	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	450					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						TTGGAAGGGGAGCCTGTTGAG	0.547												
LRRC16A	55604	broad.mit.edu	37	6	25581667	25581667	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:25581667G>A	uc011djw.1	+	31	3382	c.3006G>A	c.(3004-3006)GCG>GCA	p.A1002A	LRRC16A_uc010jpx.2_Silent_p.A1002A|LRRC16A_uc010jpy.2_Silent_p.A1002A	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1002	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						CCCAAGCAGCGGTAGGTGGAC	0.498												
HIST1H3F	8968	broad.mit.edu	37	6	26250607	26250607	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:26250607G>A	uc003nhg.1	-	1	229	c.227C>T	c.(226-228)GCG>GTG	p.A76V	HIST1H2BH_uc003nhh.2_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	76					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0						GAAGTCCTGCGCGATCTCACG	0.592											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF322A	79692	broad.mit.edu	37	6	26637632	26637632	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:26637632T>C	uc003nil.3	-	4	1779	c.1150A>G	c.(1150-1152)AGT>GGT	p.S384G	ZNF322A_uc003nij.2_5'Flank	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322A	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0						CCTTTTTCACTCACATTACAG	0.403												
HIST1H1B	3009	broad.mit.edu	37	6	27834647	27834647	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:27834647C>T	uc003njx.2	-	1	713	c.661G>A	c.(661-663)GCG>ACG	p.A221T		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	221					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TTGGCAGCCGCCTTCTTGGCC	0.532												
TRIM27	5987	broad.mit.edu	37	6	28872085	28872085	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:28872085C>T	uc003nlr.2	-	8	1663	c.1304G>A	c.(1303-1305)CGG>CAG	p.R435Q	TRIM27_uc003nls.2_Intron|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	435	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1						AATCCCCACCCGCTGGAGCGG	0.532			T	RET	papillary thyroid							
OR2J3	442186	broad.mit.edu	37	6	29080104	29080104	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:29080104T>C	uc011dll.1	+	1	437	c.437T>C	c.(436-438)CTG>CCG	p.L146P		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTCTGCCACCTGCTGGCTGTG	0.512												
OR12D2	26529	broad.mit.edu	37	6	29365367	29365367	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:29365367G>T	uc003nmf.3	+	1	952	c.891G>T	c.(889-891)AAG>AAT	p.K297N		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGGAAGTGAAGGGGGCCTTGG	0.433												
PPP1R11	6992	broad.mit.edu	37	6	30036995	30036995	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:30036995G>A	uc003npb.2	+	3	549	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	PPP1R11_uc010jrw.2_RNA|PPP1R11_uc003npc.2_RNA	NM_021959	NP_068778	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor)	98						soluble fraction	protein binding|protein phosphatase inhibitor activity			ovary(1)|lung(1)|skin(1)	3						CGCAAAGGACGGCGTCGTGCA	0.622												
C6orf134	79969	broad.mit.edu	37	6	30608312	30608312	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:30608312G>A	uc003nqu.2	+	8	634	c.584G>A	c.(583-585)CGG>CAG	p.R195Q	C6orf134_uc003nqr.3_Missense_Mutation_p.R195Q|C6orf134_uc003rdc.2_Missense_Mutation_p.R195Q|C6orf134_uc003nqs.3_Intron|C6orf134_uc003rdd.2_Intron|C6orf134_uc003nqt.2_RNA|C6orf134_uc011dmm.1_Intron|C6orf134_uc003nqv.2_Missense_Mutation_p.R183Q	NM_024909	NP_079185	Q5SQI0	ATAT_HUMAN	hypothetical protein LOC79969 isoform 2	195							tubulin N-acetyltransferase activity				0						TTCCTCACAGGGCCCCCTGCT	0.607												
BAT2	7916	broad.mit.edu	37	6	31595599	31595599	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:31595599C>T	uc003nvb.3	+	12	1597	c.1348C>T	c.(1348-1350)CGG>TGG	p.R450W	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.R450W	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	450	4 X 57 AA type A repeats.|2 X type B repeats.					cytoplasm|nucleus	protein binding				0						TGAGGCATGGCGGCAGCGACG	0.627												
RDBP	7936	broad.mit.edu	37	6	31924611	31924611	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:31924611T>C	uc003nyk.2	-	4	354	c.150A>G	c.(148-150)CTA>CTG	p.L50L	RDBP_uc011dot.1_Silent_p.L50L|RDBP_uc003nyl.1_5'UTR|RDBP_uc003nym.1_Silent_p.L50L|SKIV2L_uc003nyn.1_5'Flank|SKIV2L_uc011dou.1_5'Flank|SKIV2L_uc011dov.1_5'Flank	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	50					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GCTGCTCTGATAGTGCTGGAG	0.547												
TNXB	7148	broad.mit.edu	37	6	31977521	31977521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:31977521C>A	uc011dpc.1	-	12	2383	c.1474G>T	c.(1474-1476)GAG>TAG	p.E492*		NM_032470	NP_115859	P22105	TENX_HUMAN	tenascin XB isoform 2	4108	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CCATCAGTCTCCATGTCCCAA	0.667												
B3GALT4	8705	broad.mit.edu	37	6	33245893	33245893	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:33245893C>T	uc003odr.2	+	1	977	c.697C>T	c.(697-699)CGC>TGC	p.R233C		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	233	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						GGTGCACTGGCGCGTGAACCC	0.652												
C6orf1	221491	broad.mit.edu	37	6	34214308	34214308	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:34214308G>A	uc003ojf.2	-	5	1055	c.463C>T	c.(463-465)CAC>TAC	p.H155Y	uc003oje.1_5'Flank|C6orf1_uc003ojg.2_Missense_Mutation_p.H155Y|C6orf1_uc003ojh.2_Missense_Mutation_p.H155Y|C6orf1_uc003oji.2_RNA	NM_178508	NP_848603	Q86T20	CF001_HUMAN	hypothetical protein LOC221491 precursor	155						extracellular region					0		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		AAGCAAAGGTGTCTACCAGCC	0.587												
PPARD	5467	broad.mit.edu	37	6	35392251	35392251	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:35392251G>A	uc003okm.2	+	7	1082	c.773G>A	c.(772-774)CGG>CAG	p.R258Q	PPARD_uc003okl.2_Missense_Mutation_p.R258Q|PPARD_uc003okn.2_Missense_Mutation_p.R258Q|PPARD_uc011dtb.1_Missense_Mutation_p.R219Q|PPARD_uc011dtc.1_Missense_Mutation_p.R160Q	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	258	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GAGACCGTGCGGGAGCTCACT	0.592												
CPNE5	57699	broad.mit.edu	37	6	36733117	36733117	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:36733117G>A	uc003omr.1	-	11	841	c.774C>T	c.(772-774)GAC>GAT	p.D258D	CPNE5_uc003oms.1_Silent_p.D237D	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	258	C2 2.									skin(1)	1						CTTACCTGCCGTCCCGATCCC	0.657												
BTBD9	114781	broad.mit.edu	37	6	38562036	38562036	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:38562036C>T	uc003ooa.3	-	4	829	c.253G>A	c.(253-255)GCA>ACA	p.A85T	BTBD9_uc003ony.3_Missense_Mutation_p.A17T|BTBD9_uc010jwv.2_Missense_Mutation_p.A17T|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.A85T	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	85	BTB.				cell adhesion						0						AATGCTTCTGCAGTGGTGTCT	0.478												
DNAH8	1769	broad.mit.edu	37	6	38754702	38754702	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:38754702T>A	uc003ooe.1	+	16	2506	c.1906T>A	c.(1906-1908)TTG>ATG	p.L636M		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						GGAAAGTAAATTGAAAGCAGA	0.274												
KIF6	221458	broad.mit.edu	37	6	39507819	39507819	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:39507819G>A	uc003oot.2	-	13	1700	c.1605C>T	c.(1603-1605)AGC>AGT	p.S535S	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Silent_p.S326S|KIF6_uc011dua.1_Silent_p.S535S|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	535					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TCCCCAAAATGCTGAAGTCCT	0.468												
TDRD6	221400	broad.mit.edu	37	6	46661723	46661723	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:46661723G>A	uc003oyj.2	+	1	5858	c.5858G>A	c.(5857-5859)CGC>CAC	p.R1953H	TDRD6_uc010jze.2_Missense_Mutation_p.R1947H	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1953					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GATGACCAGCGCAGGATGTCA	0.378												
GPR115	221393	broad.mit.edu	37	6	47682279	47682279	+	Missense_Mutation	SNP	C	C	T	rs146828294	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:47682279C>T	uc003oza.1	+	6	1556	c.1298C>T	c.(1297-1299)ACG>ATG	p.T433M	GPR115_uc003oyz.1_Missense_Mutation_p.T490M|GPR115_uc003ozb.1_Missense_Mutation_p.T431M	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	433	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						GTGGTTGTGACGGAGATATCA	0.478												
TFAP2D	83741	broad.mit.edu	37	6	50682856	50682856	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:50682856C>T	uc003paf.2	+	2	579	c.67C>T	c.(67-69)CGT>TGT	p.R23C	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	23							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					AAACAGCTACCGTTTGATGCA	0.517												
PKHD1	5314	broad.mit.edu	37	6	51524188	51524188	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:51524188A>G	uc003pah.1	-	61	11012	c.10736T>C	c.(10735-10737)GTA>GCA	p.V3579A		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3579	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TTCGAGTATTACTATTTCCCA	0.438												
GCLC	2729	broad.mit.edu	37	6	53387264	53387264	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:53387264C>A	uc003pbw.1	-	2	600	c.212G>T	c.(211-213)GGG>GTG	p.G71V	GCLC_uc003pbx.2_Missense_Mutation_p.G71V	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	71					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AACTTTCTCCCCAGACAGGAC	0.373												
ZNF451	26036	broad.mit.edu	37	6	57012447	57012447	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:57012447G>A	uc003pdm.1	+	10	1788	c.1564G>A	c.(1564-1566)GGA>AGA	p.G522R	ZNF451_uc003pdl.2_Missense_Mutation_p.G522R|ZNF451_uc003pdn.1_Missense_Mutation_p.G522R|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.G522R	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CCGGATTCACGGAGGGGCACA	0.403												
COL9A1	1297	broad.mit.edu	37	6	70990735	70990735	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:70990735C>T	uc003pfg.3	-	9	1043	c.884G>A	c.(883-885)CGA>CAA	p.R295Q	COL9A1_uc003pfe.3_5'Flank|COL9A1_uc003pff.3_Missense_Mutation_p.R52Q	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	295	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CTTAGGACCTCGGTCACCCTG	0.572												
FAM135A	57579	broad.mit.edu	37	6	71248027	71248027	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:71248027G>A	uc003pfj.2	+	18	4284	c.4151G>A	c.(4150-4152)GGT>GAT	p.G1384D	FAM135A_uc003pfi.2_Missense_Mutation_p.G1188D|FAM135A_uc003pfh.2_Missense_Mutation_p.G1171D|FAM135A_uc003pfl.2_Missense_Mutation_p.G1051D|FAM135A_uc003pfn.2_Missense_Mutation_p.G590D|FAM135A_uc003pfo.1_Missense_Mutation_p.G755D|FAM135A_uc010kan.1_Intron	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1384										central_nervous_system(1)	1						AAAAAATCAGGTTCGCTTTTG	0.328												
KHDC1	80759	broad.mit.edu	37	6	73952206	73952206	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:73952206G>A	uc003pgo.2	-	3	755	c.254C>T	c.(253-255)CCG>CTG	p.P85L	KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Missense_Mutation_p.P12L	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	85						integral to membrane	RNA binding			skin(1)	1						GGTCCACCACGGCTTCTTGCT	0.532												
COL12A1	1303	broad.mit.edu	37	6	75853032	75853032	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:75853032G>T	uc003phs.2	-	26	4929	c.4763C>A	c.(4762-4764)CCT>CAT	p.P1588H	COL12A1_uc003pht.2_Missense_Mutation_p.P424H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1588	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TCCAGGCACAGGTTCCCAAAA	0.398												
COL12A1	1303	broad.mit.edu	37	6	75861886	75861886	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:75861886C>T	uc003phs.2	-	19	3962	c.3796G>A	c.(3796-3798)GTG>ATG	p.V1266M	COL12A1_uc003pht.2_Missense_Mutation_p.V102M	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1266	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						AAGTTTGCCACAGCTTGCAAC	0.473												
HTR1B	3351	broad.mit.edu	37	6	78172719	78172719	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:78172719A>G	uc003pil.1	-	1	402	c.402T>C	c.(400-402)ACT>ACC	p.T134T		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	134	Helical; Name=3; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGATGGAGGCAGTGCAACAAG	0.612												
TTK	7272	broad.mit.edu	37	6	80720598	80720598	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:80720598G>A	uc003pjc.2	+	5	611	c.537G>A	c.(535-537)ATG>ATA	p.M179I	TTK_uc003pjb.3_Missense_Mutation_p.M179I	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	179					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CACTAGAAATGCTGGAAATTG	0.348												
PRSS35	167681	broad.mit.edu	37	6	84233649	84233649	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:84233649T>C	uc003pjz.2	+	2	652	c.489T>C	c.(487-489)CAT>CAC	p.H163H	PRSS35_uc010kbm.2_Silent_p.H163H	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	163	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCCCTCAGCATGTTCTAACTG	0.453												
CNR1	1268	broad.mit.edu	37	6	88853588	88853588	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:88853588G>A	uc011dzq.1	-	2	4969	c.1406C>T	c.(1405-1407)GCC>GTC	p.A469V	CNR1_uc010kbz.2_Missense_Mutation_p.A469V|CNR1_uc011dzr.1_Missense_Mutation_p.A469V|CNR1_uc011dzs.1_Missense_Mutation_p.A469V|CNR1_uc003pmq.3_Missense_Mutation_p.A469V|CNR1_uc011dzt.1_Missense_Mutation_p.A469V|CNR1_uc010kca.2_Missense_Mutation_p.A436V	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	469	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CAGAGCCTCGGCAGACGTGTC	0.473												
COQ3	51805	broad.mit.edu	37	6	99831610	99831610	+	Missense_Mutation	SNP	G	G	A	rs149717575	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:99831610G>A	uc003ppk.2	-	2	224	c.197C>T	c.(196-198)ACG>ATG	p.T66M		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	hexaprenyldihydroxybenzoate methyltransferase	66					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		GGAAAAGATCGTCCTGTAGGA	0.338												
WASF1	8936	broad.mit.edu	37	6	110428390	110428390	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:110428390C>A	uc003ptv.1	-	7	1267	c.430G>T	c.(430-432)GGT>TGT	p.G144C	WASF1_uc003ptw.1_Missense_Mutation_p.G144C|WASF1_uc003ptx.1_Missense_Mutation_p.G144C|WASF1_uc003pty.1_Missense_Mutation_p.G144C|WASF1_uc003ptz.1_Missense_Mutation_p.G144C	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	144					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CCTTCTTTACCATCATCTCTG	0.294												
WISP3	8838	broad.mit.edu	37	6	112382213	112382213	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:112382213G>A	uc003pvm.2	+	3	178	c.68G>A	c.(67-69)GGC>GAC	p.G23D	WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.G41D	NM_003880	NP_003871	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	23					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding				0		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AGGGTACAGGGCACTGGACCA	0.438												
DSE	29940	broad.mit.edu	37	6	116757924	116757924	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:116757924C>T	uc003pws.2	+	6	2487	c.2293C>T	c.(2293-2295)CGG>TGG	p.R765W	DSE_uc011ebg.1_Missense_Mutation_p.R784W|DSE_uc003pwt.2_Missense_Mutation_p.R765W|DSE_uc003pwu.2_Missense_Mutation_p.R432W	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	765					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GTCCCGAGTCCGGAACACAGC	0.473												
THEMIS	387357	broad.mit.edu	37	6	128134599	128134599	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:128134599G>A	uc003qbi.2	-	5	1506	c.1187C>T	c.(1186-1188)ACG>ATG	p.T396M	THEMIS_uc010kfa.2_Missense_Mutation_p.T299M|THEMIS_uc011ebt.1_Missense_Mutation_p.T396M|THEMIS_uc010kfb.2_Missense_Mutation_p.T361M	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	396	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						GACTTCAGTCGTCTCTGACTG	0.493												
THEMIS	387357	broad.mit.edu	37	6	128150884	128150884	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:128150884A>G	uc003qbi.2	-	4	765	c.446T>C	c.(445-447)ATG>ACG	p.M149T	THEMIS_uc010kfa.2_Missense_Mutation_p.M52T|THEMIS_uc011ebt.1_Missense_Mutation_p.M149T|THEMIS_uc010kfb.2_Missense_Mutation_p.M114T	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	149	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						ACAGCTCACCATTATTTCTCC	0.383												
SAMD3	154075	broad.mit.edu	37	6	130476087	130476087	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:130476087C>A	uc003qbv.2	-	10	1232	c.906G>T	c.(904-906)TGG>TGT	p.W302C	SAMD3_uc003qbx.2_Missense_Mutation_p.W302C|SAMD3_uc003qbw.2_Missense_Mutation_p.W302C	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	302										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CAATTTCTCTCCAGTCCTTTT	0.373												
EPB41L2	2037	broad.mit.edu	37	6	131206333	131206333	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:131206333G>T	uc003qch.2	-	12	1918	c.1736C>A	c.(1735-1737)CCT>CAT	p.P579H	EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc003qcg.1_Missense_Mutation_p.P579H|EPB41L2_uc011eby.1_Missense_Mutation_p.P579H|EPB41L2_uc003qci.2_Missense_Mutation_p.P579H|EPB41L2_uc010kfk.2_Missense_Mutation_p.P579H|EPB41L2_uc010kfl.1_Missense_Mutation_p.P579H	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	579	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GACAAGTCCAGGTCCATAGGC	0.493											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RPS12	6206	broad.mit.edu	37	6	133138636	133138636	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:133138636T>C	uc003qdx.2	+	6	436	c.354T>C	c.(352-354)TCT>TCC	p.S118S		NM_001016	NP_001007	P25398	RS12_HUMAN	ribosomal protein S12	118					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome				0	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		GCAAGGAGTCTCAGGCCAAGG	0.353												
SLC2A12	154091	broad.mit.edu	37	6	134350554	134350554	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:134350554G>A	uc003qem.1	-	2	580	c.409C>T	c.(409-411)CGC>TGC	p.R137C		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	137	Extracellular (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)		ATGGCAATGCGTCCCACTATA	0.478												
AIG1	51390	broad.mit.edu	37	6	143382143	143382143	+	Silent	SNP	C	C	A	rs11556578		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:143382143C>A	uc003qjh.2	+	1	121	c.81C>A	c.(79-81)ATC>ATA	p.I27I	AIG1_uc003qjf.2_Silent_p.I17I|AIG1_uc003qji.2_Silent_p.I17I|AIG1_uc011edw.1_Silent_p.I27I|AIG1_uc003qjg.2_Silent_p.I27I	NM_016108	NP_057192	Q9NVV5	AIG1_HUMAN	androgen-induced 1	27						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		ACAAGGCCATCGAAATGCCCT	0.592												
UTRN	7402	broad.mit.edu	37	6	144724272	144724272	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:144724272C>T	uc003qkt.2	+	2	185	c.93C>T	c.(91-93)GAC>GAT	p.D31D	UTRN_uc010khq.1_Silent_p.D31D	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	31	CH 1.|Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACACAATGACGTACAGAAGA	0.368												
UTRN	7402	broad.mit.edu	37	6	144801065	144801065	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:144801065G>T	uc003qkt.2	+	25	3546	c.3454G>T	c.(3454-3456)GAT>TAT	p.D1152Y	UTRN_uc010khq.1_Missense_Mutation_p.D1152Y	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1152	Spectrin 8.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTGGAGCGGGATTTTGAGTA	0.512												
UTRN	7402	broad.mit.edu	37	6	144811233	144811233	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:144811233T>C	uc003qkt.2	+	30	4253	c.4161T>C	c.(4159-4161)CAT>CAC	p.H1387H		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1387	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTCAGCCCATGAGCTAACCC	0.433												
GRM1	2911	broad.mit.edu	37	6	146673400	146673400	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:146673400G>A	uc010khw.1	+	5	1671	c.1201G>A	c.(1201-1203)GAA>AAA	p.E401K	GRM1_uc010khv.1_Missense_Mutation_p.E401K|GRM1_uc003qll.2_Missense_Mutation_p.E401K|GRM1_uc011edz.1_Missense_Mutation_p.E401K|GRM1_uc011eea.1_Missense_Mutation_p.E401K	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	401	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGAAAGCTTAGAAGAAAACTA	0.443												
GRM1	2911	broad.mit.edu	37	6	146720020	146720020	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:146720020A>G	uc010khw.1	+	8	2315	c.1845A>G	c.(1843-1845)GTA>GTG	p.V615V	GRM1_uc010khv.1_Silent_p.V615V|GRM1_uc003qll.2_Silent_p.V615V|GRM1_uc011edz.1_Silent_p.V615V|GRM1_uc011eea.1_Silent_p.V615V	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	615	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TAATCTTTGTACTGTACCGGG	0.488												
TAB2	23118	broad.mit.edu	37	6	149719193	149719193	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:149719193C>T	uc003qmj.2	+	5	2031	c.1853C>T	c.(1852-1854)GCC>GTC	p.A618V	TAB2_uc011eec.1_Missense_Mutation_p.A586V|TAB2_uc003qmk.3_RNA|SUMO4_uc003qml.2_5'Flank	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	618	Potential.				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						CTTTTTCAAGCCCGAGGTAAA	0.343												
LATS1	9113	broad.mit.edu	37	6	150023018	150023018	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:150023018C>T	uc003qmu.1	-	2	793	c.245G>A	c.(244-246)CGA>CAA	p.R82Q	LATS1_uc010kif.1_5'UTR|LATS1_uc003qmv.1_Missense_Mutation_p.R82Q|LATS1_uc003qmw.2_Missense_Mutation_p.R82Q|LATS1_uc010kig.1_5'UTR	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	82					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|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			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CAGAGAGTTTCGAATTTCCTG	0.408												
SYNE1	23345	broad.mit.edu	37	6	152772296	152772296	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:152772296A>G	uc010kiw.2	-	26	3674	c.3072T>C	c.(3070-3072)ATT>ATC	p.I1024I	SYNE1_uc003qot.3_Silent_p.I1031I|SYNE1_uc003qou.3_Silent_p.I1024I|SYNE1_uc010kjb.1_Silent_p.I1007I|SYNE1_uc003qow.2_Silent_p.I319I|SYNE1_uc003qox.1_Silent_p.I540I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1024	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTCCACATCAATCTTCAGAT	0.413										HNSCC(10;0.0054)		
TIAM2	26230	broad.mit.edu	37	6	155451055	155451055	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:155451055C>A	uc003qqb.2	+	6	1971	c.698C>A	c.(697-699)TCT>TAT	p.S233Y	TIAM2_uc003qqe.2_Missense_Mutation_p.S233Y	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	233					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCACGGACTCTCGCCTGCGG	0.637												
TIAM2	26230	broad.mit.edu	37	6	155458397	155458397	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:155458397T>C	uc003qqb.2	+	7	2554	c.1281T>C	c.(1279-1281)TCT>TCC	p.S427S	TIAM2_uc003qqe.2_Silent_p.S427S|TIAM2_uc010kjj.2_5'UTR	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	427					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCAGGCATCTGCTTTTCTGT	0.527												
SYNJ2	8871	broad.mit.edu	37	6	158449919	158449919	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:158449919C>T	uc003qqx.1	+	3	421	c.346C>T	c.(346-348)CGC>TGC	p.R116C	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.R116C|SYNJ2_uc003qqy.1_Translation_Start_Site|SYNJ2_uc011efn.1_Missense_Mutation_p.R65C|SYNJ2_uc010kjo.1_Missense_Mutation_p.R65C	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	116							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGAGGAGGAACGCCTCATAGC	0.507												
TULP4	56995	broad.mit.edu	37	6	158924493	158924493	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:158924493C>T	uc003qrf.2	+	13	5155	c.3798C>T	c.(3796-3798)TAC>TAT	p.Y1266Y	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1266					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGAGTTCCTACAGCGCCTGCC	0.632												
IGF2R	3482	broad.mit.edu	37	6	160468904	160468904	+	Silent	SNP	C	C	T	rs145047577		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:160468904C>T	uc003qta.2	+	17	2458	c.2310C>T	c.(2308-2310)ACC>ACT	p.T770T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	770	5.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCGTAGTGACCGACCCCTCCA	0.582												
SLC22A1	6580	broad.mit.edu	37	6	160557309	160557309	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:160557309A>G	uc003qtc.2	+	5	1002	c.897A>G	c.(895-897)ATA>ATG	p.I299M	SLC22A1_uc003qtd.2_Missense_Mutation_p.I299M	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	299	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CTGAAGCAATAAAGATAATGG	0.473												
LPA	4018	broad.mit.edu	37	6	161032593	161032593	+	Splice_Site	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:161032593C>T	uc003qtl.2	-	17	2723	c.2603_splice	c.e17+1	p.A868_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor						blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAAGACATACGCATTTGGGT	0.463												
PLG	5340	broad.mit.edu	37	6	161139414	161139414	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:161139414C>T	uc003qtm.3	+	8	939	c.876C>T	c.(874-876)TCC>TCT	p.S292S		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	292	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTACCGTGTCCGGGCACACCT	0.547												
PARK2	5071	broad.mit.edu	37	6	162394359	162394359	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:162394359T>C	uc003qtx.3	-	6	843	c.709A>G	c.(709-711)ACT>GCT	p.T237A	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.T46A|PARK2_uc003qtw.3_Missense_Mutation_p.T46A|PARK2_uc003qty.3_Missense_Mutation_p.T209A|PARK2_uc003qtz.3_Missense_Mutation_p.T88A|PARK2_uc010kke.1_Missense_Mutation_p.T237A	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	237	SYT11 binding 1.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTAATGCAAGTGATGTTCCGA	0.443												
T	6862	broad.mit.edu	37	6	166580950	166580950	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:166580950C>T	uc003quu.1	-	2	623	c.130G>A	c.(130-132)GTG>ATG	p.V44M	T_uc003qut.1_Missense_Mutation_p.V44M|T_uc003quv.1_Missense_Mutation_p.V44M	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	44					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TCCAGGCCCACGCGCAGTTCG	0.657									Chordoma_Familial_Clustering_of			
PRR18	285800	broad.mit.edu	37	6	166721232	166721232	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:166721232C>T	uc003quw.1	-	1	640	c.399G>A	c.(397-399)GCG>GCA	p.A133A		NM_175922	NP_787118	Q8N4B5	PRR18_HUMAN	proline rich region 18	133						endoplasmic reticulum					0		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		GGCAGAAGCGCGCAGCGGAGT	0.716												
HEATR2	54919	broad.mit.edu	37	7	796442	796442	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:796442C>T	uc010krz.1	+	6	1301	c.1281C>T	c.(1279-1281)GTC>GTT	p.V427V	HEATR2_uc003siz.2_Silent_p.V295V	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	427							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CAGAGCTCGTCGGGACGTTTG	0.607												
SDK1	221935	broad.mit.edu	37	7	4304818	4304818	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:4304818C>T	uc003smx.2	+	45	6583	c.6444C>T	c.(6442-6444)AGC>AGT	p.S2148S	SDK1_uc010kso.2_Silent_p.S1404S|SDK1_uc003smy.2_Silent_p.S635S|SDK1_uc003smz.2_Silent_p.S208S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2148	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACTACATGAGCGACCCCACCT	0.687												
RADIL	55698	broad.mit.edu	37	7	4917266	4917266	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:4917266C>T	uc003snj.1	-	2	678	c.505G>A	c.(505-507)GCA>ACA	p.A169T	RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	169					cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCCTTGGCTGCCAGCTCCTCC	0.607												
SLC29A4	222962	broad.mit.edu	37	7	5331406	5331406	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:5331406C>T	uc003sod.2	+	5	659	c.498C>T	c.(496-498)TAC>TAT	p.Y166Y	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.Y166Y|SLC29A4_uc003soe.2_Missense_Mutation_p.T154M	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	166	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		ACCAGGCCTACGCCATCAACC	0.637												
FSCN1	6624	broad.mit.edu	37	7	5632920	5632920	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:5632920G>A	uc003sou.2	+	1	467	c.353G>A	c.(352-354)CGC>CAC	p.R118H		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	118					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ACCGAGGACCGCCTGTCCTGC	0.682												
DAGLB	221955	broad.mit.edu	37	7	6449537	6449537	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:6449537G>A	uc003sqa.2	-	15	2120	c.1950C>T	c.(1948-1950)AGC>AGT	p.S650S	DAGLB_uc003spy.2_Silent_p.S196S|DAGLB_uc003spz.2_Silent_p.S347S|DAGLB_uc011jwt.1_Silent_p.S464S|DAGLB_uc011jwu.1_Silent_p.S521S|DAGLB_uc003sqb.2_Silent_p.S369S|DAGLB_uc003sqc.2_Silent_p.S369S|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.S609S	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	650	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CGGAGACCACGCTGTCCAAGG	0.597												
TMEM106B	54664	broad.mit.edu	37	7	12263988	12263988	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:12263988C>T	uc011jxk.1	+	5	818	c.418C>T	c.(418-420)CGT>TGT	p.R140C	TMEM106B_uc003ssh.2_Missense_Mutation_p.R140C	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	140						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TGTTCAGAAGCGTACAATTTA	0.343												
OSBPL3	26031	broad.mit.edu	37	7	24874171	24874171	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:24874171G>A	uc003sxf.2	-	15	2085	c.1680C>T	c.(1678-1680)TGC>TGT	p.C560C	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.C524C|OSBPL3_uc003sxh.2_Silent_p.C529C|OSBPL3_uc003sxi.2_Silent_p.C493C|OSBPL3_uc003sxj.1_Silent_p.C289C|OSBPL3_uc003sxk.1_Silent_p.C258C	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	560					lipid transport		lipid binding|protein binding			skin(1)	1						CCAGCTCCTCGCAGAGCCTCT	0.622												
CCDC129	223075	broad.mit.edu	37	7	31617908	31617908	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:31617908G>A	uc003tcj.1	+	8	2023	c.1030G>A	c.(1030-1032)GCC>ACC	p.A344T	CCDC129_uc011kad.1_Missense_Mutation_p.A354T|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.A370T|CCDC129_uc003tck.1_Missense_Mutation_p.A252T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	344											0						ATCTATGCCGGCCAAGCAGGC	0.498												
KBTBD2	25948	broad.mit.edu	37	7	32914609	32914609	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:32914609G>T	uc003tdb.2	-	3	990	c.331C>A	c.(331-333)CTA>ATA	p.L111I	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	111											0			GBM - Glioblastoma multiforme(11;0.0499)			CTTACCTGTAGGAAGCAAGCT	0.234												
GCK	2645	broad.mit.edu	37	7	44189576	44189576	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:44189576G>A	uc003tkl.2	-	5	1041	c.571C>T	c.(571-573)CGG>TGG	p.R191W	GCK_uc003tkj.1_Missense_Mutation_p.R190W|GCK_uc003tkk.1_Missense_Mutation_p.R192W	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	191					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						ACCCCTCTCCGTTTGATAGCG	0.632												
NPC1L1	29881	broad.mit.edu	37	7	44574135	44574135	+	Missense_Mutation	SNP	G	G	A	rs114737991	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:44574135G>A	uc003tlb.2	-	6	2133	c.2077C>T	c.(2077-2079)CGC>TGC	p.R693C	NPC1L1_uc003tlc.2_Missense_Mutation_p.R693C|NPC1L1_uc011kbw.1_Missense_Mutation_p.R693C|NPC1L1_uc003tld.2_Missense_Mutation_p.R693C	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	693	SSD.|Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	AGGGAGGAGCGGATACCCAAG	0.587											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZMIZ2	83637	broad.mit.edu	37	7	44800124	44800124	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:44800124A>G	uc003tlr.2	+	9	1295	c.1172A>G	c.(1171-1173)CAA>CGA	p.Q391R	ZMIZ2_uc003tlq.2_Missense_Mutation_p.Q333R|ZMIZ2_uc003tls.2_Missense_Mutation_p.Q365R|ZMIZ2_uc003tlt.2_Missense_Mutation_p.Q14R|ZMIZ2_uc010kyj.2_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	391	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						TCACCAAACCAAGAGGTCAAG	0.592												
IKZF1	10320	broad.mit.edu	37	7	50450374	50450374	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:50450374C>T	uc003tow.3	+	6	726	c.558C>T	c.(556-558)GAC>GAT	p.D186D	IKZF1_uc003tox.3_Silent_p.D186D|IKZF1_uc003toy.3_Silent_p.D186D|IKZF1_uc011kck.1_Silent_p.D99D|IKZF1_uc003toz.3_Silent_p.D156D|IKZF1_uc010kyx.2_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	186	C2H2-type 3.|Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCGGAGGGACGCCCTCACTG	0.652			D		ALL							
IKZF1	10320	broad.mit.edu	37	7	50468106	50468106	+	Silent	SNP	C	C	T	rs143013761	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:50468106C>T	uc003tow.3	+	9	1509	c.1341C>T	c.(1339-1341)GAC>GAT	p.D447D	IKZF1_uc003tox.3_Silent_p.D405D|IKZF1_uc003toy.3_Silent_p.D405D|IKZF1_uc011kck.1_Silent_p.D360D|IKZF1_uc003toz.3_Silent_p.D417D|IKZF1_uc010kyx.2_Silent_p.D187D|IKZF1_uc003tpa.3_Silent_p.D189D	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	447					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACTCGCAGGACGCGCTCCGCG	0.652			D		ALL							
GRB10	2887	broad.mit.edu	37	7	50799979	50799979	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:50799979G>A	uc003tpi.2	-	1	72	c.41C>T	c.(40-42)CCG>CTG	p.P14L	GRB10_uc003tpj.2_Missense_Mutation_p.P14L|GRB10_uc003tpk.2_Missense_Mutation_p.P14L|GRB10_uc010kzb.2_Intron|GRB10_uc003tpl.2_Intron|GRB10_uc003tpm.2_Intron|GRB10_uc003tpn.2_Intron	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	14					insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					CTGGTAGTACGGATGGTGCAA	0.532									Russell-Silver_syndrome			
EGFR	1956	broad.mit.edu	37	7	55269026	55269026	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:55269026G>A	uc003tqk.2	+	25	3338	c.3092G>A	c.(3091-3093)CGG>CAG	p.R1031Q	EGFR_uc010kzg.1_Missense_Mutation_p.R986Q|EGFR_uc011kco.1_Missense_Mutation_p.R978Q	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	1031	Cytoplasmic (Potential).|Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCCACGTCACGGACTCCCCTC	0.507		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
POM121C	100101267	broad.mit.edu	37	7	75048170	75048170	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:75048170G>A	uc003udk.3	-	15	3758	c.2873C>T	c.(2872-2874)GCG>GTG	p.A958V		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	1200	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						TGAAGGGGCCGCCGATCCTGG	0.572												
SEMA3E	9723	broad.mit.edu	37	7	83037703	83037703	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:83037703G>A	uc003uhy.1	-	6	1117	c.651C>T	c.(649-651)GAC>GAT	p.D217D		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	217	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.D217D(1)		ovary(3)	3		Medulloblastoma(109;0.109)				GACGCTCATCGTCATGCTCAG	0.448												
RUNDC3B	154661	broad.mit.edu	37	7	87436695	87436695	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:87436695C>T	uc003ujb.2	+	10	1426	c.1015C>T	c.(1015-1017)CTA>TTA	p.L339L	RUNDC3B_uc011khd.1_Silent_p.L322L|RUNDC3B_uc011khe.1_Silent_p.L322L|RUNDC3B_uc003ujc.2_Intron|RUNDC3B_uc003ujd.2_Intron	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	339	Potential.									skin(1)	1	Esophageal squamous(14;0.00164)					CAGGACTGTGCTAAAGAATAA	0.428												
AKAP9	10142	broad.mit.edu	37	7	91715653	91715653	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:91715653C>T	uc003ulg.2	+	37	9361	c.9136C>T	c.(9136-9138)CGG>TGG	p.R3046W	AKAP9_uc003ulf.2_Missense_Mutation_p.R3038W|AKAP9_uc003uli.2_Missense_Mutation_p.R2669W|AKAP9_uc003ulj.2_Missense_Mutation_p.R816W|AKAP9_uc003ulk.2_Missense_Mutation_p.R321W	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3050					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCAGCATTTCGGACGGAGCT	0.408			T	BRAF	papillary thyroid							
LMTK2	22853	broad.mit.edu	37	7	97821334	97821334	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:97821334C>T	uc003upd.1	+	11	1850	c.1557C>T	c.(1555-1557)CCC>CCT	p.P519P		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	519					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATCCTGGGCCCGGAAAGCAAG	0.542												
TRRAP	8295	broad.mit.edu	37	7	98557049	98557049	+	Missense_Mutation	SNP	G	G	A	rs149626121	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:98557049G>A	uc003upp.2	+	44	6613	c.6404G>A	c.(6403-6405)CGG>CAG	p.R2135Q	TRRAP_uc011kis.1_Missense_Mutation_p.R2117Q|TRRAP_uc003upr.2_Missense_Mutation_p.R1834Q	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2135	Interaction with TP53.				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)			ACTGCGTTGCGGCCAGACATG	0.582												
ARPC1B	10095	broad.mit.edu	37	7	98988840	98988840	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:98988840G>A	uc003upz.2	+	7	836	c.747G>A	c.(745-747)GCG>GCA	p.A249A	ARPC1B_uc003uqa.2_Silent_p.A249A|ARPC1B_uc003uqb.2_Silent_p.A249A|ARPC1B_uc003uqc.2_Silent_p.A249A|ARPC1B_uc003uqd.2_Silent_p.A61A	NM_005720	NP_005711	O15143	ARC1B_HUMAN	actin related protein 2/3 complex subunit 1B	249	WD 5.				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton				0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CACTGCTGGCGCTGACCTTCA	0.627												
C7orf51	222950	broad.mit.edu	37	7	100086958	100086958	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:100086958G>A	uc003uvd.1	+	4	1773	c.1614G>A	c.(1612-1614)CCG>CCA	p.P538P	C7orf51_uc003uve.1_Silent_p.P320P	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	538										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCCTTCCGGACCCAACTG	0.711												
GIGYF1	64599	broad.mit.edu	37	7	100284988	100284988	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:100284988C>T	uc003uwg.1	-	5	1424	c.415G>A	c.(415-417)GAA>AAA	p.E139K		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	139										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCGCCTTCTTCGATGCTTCTT	0.637												
EPHB4	2050	broad.mit.edu	37	7	100417393	100417393	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:100417393G>A	uc003uwn.1	-	6	1574	c.1083C>T	c.(1081-1083)TGC>TGT	p.C361C	EPHB4_uc003uwm.1_Silent_p.C268C|EPHB4_uc010lhj.1_Silent_p.C361C|EPHB4_uc011kkf.1_Silent_p.C361C|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Silent_p.C361C	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	361	Extracellular (Potential).|Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCACTCCCGGCAGCGGAGGG	0.706												
SLC12A9	56996	broad.mit.edu	37	7	100463810	100463810	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:100463810G>T	uc003uwp.2	+	14	2470	c.2328G>T	c.(2326-2328)GAG>GAT	p.E776D	SLC12A9_uc011kki.1_Missense_Mutation_p.E307D|SLC12A9_uc003uwr.2_Missense_Mutation_p.E512D|SLC12A9_uc003uws.2_Missense_Mutation_p.E307D|SLC12A9_uc003uwt.2_Missense_Mutation_p.E512D|SLC12A9_uc003uwv.2_Missense_Mutation_p.E307D|TRIP6_uc010lhk.1_5'Flank|TRIP6_uc003uww.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	776	Cytoplasmic (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCTCGGGAGGCGCCTGGGG	0.716												
ACHE	43	broad.mit.edu	37	7	100491548	100491548	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:100491548T>C	uc003uxd.2	-	1	462	c.306A>G	c.(304-306)CAA>CAG	p.Q102Q	ACHE_uc003uxe.2_Silent_p.Q102Q|ACHE_uc003uxf.2_Silent_p.Q102Q|ACHE_uc003uxg.2_Silent_p.Q102Q|ACHE_uc003uxh.2_Silent_p.Q102Q|ACHE_uc003uxi.2_Silent_p.Q102Q|ACHE_uc003uxj.1_Silent_p.Q221Q	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	102					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TGTCCACATATTGGTAGCAGA	0.592												
C7orf52	375607	broad.mit.edu	37	7	100817842	100817842	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:100817842G>A	uc003uxy.1	-	2	486	c.247C>T	c.(247-249)CGC>TGC	p.R83C	C7orf52_uc003uxz.1_Missense_Mutation_p.R83C|C7orf52_uc003uya.1_Missense_Mutation_p.R83C|C7orf52_uc003uyb.1_Missense_Mutation_p.R83C	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	83	N-acetyltransferase.						N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGTGGTAGCGGCTAGGAAGG	0.687												
SH2B2	10603	broad.mit.edu	37	7	101952177	101952177	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:101952177C>T	uc011kko.1	+	4	1086	c.1041C>T	c.(1039-1041)TGC>TGT	p.C347C		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	304	PH.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity				0						TCCAGGGCTGCGTGGACCCCG	0.607												
RELN	5649	broad.mit.edu	37	7	103113350	103113350	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:103113350C>T	uc003vca.2	-	66	10452	c.10292G>A	c.(10291-10293)CGC>CAC	p.R3431H	RELN_uc010liz.2_Missense_Mutation_p.R3429H	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3431	Arg-rich (basic).				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTTGTTTGCGAGTGCTGTT	0.398												
RINT1	60561	broad.mit.edu	37	7	105195574	105195574	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:105195574T>C	uc003vda.1	+	11	1802	c.1571T>C	c.(1570-1572)ATG>ACG	p.M524T	RINT1_uc010ljj.1_Missense_Mutation_p.M99T	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	524	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						ACACAAGTGATGAAAGAAGAG	0.408												
LAMB4	22798	broad.mit.edu	37	7	107708575	107708575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:107708575C>A	uc010ljo.1	-	19	2416	c.2332G>T	c.(2332-2334)GGA>TGA	p.G778*	LAMB4_uc003vey.2_Nonsense_Mutation_p.G778*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	778	Laminin EGF-like 6.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						CAGCTGGATCCGACTGAGCCC	0.552												
IFRD1	3475	broad.mit.edu	37	7	112098933	112098933	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:112098933C>T	uc003vgh.2	+	6	870	c.427C>T	c.(427-429)CGT>TGT	p.R143C	IFRD1_uc011kmn.1_Missense_Mutation_p.R93C|IFRD1_uc003vgj.2_Missense_Mutation_p.R143C|IFRD1_uc011kmo.1_Intron|IFRD1_uc011kmp.1_Missense_Mutation_p.R93C	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	143					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						TGATGAGCAACGTGCAGCTGC	0.388												
PPP1R3A	5506	broad.mit.edu	37	7	113518220	113518220	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:113518220A>G	uc010ljy.1	-	4	2958	c.2927T>C	c.(2926-2928)GTT>GCT	p.V976A		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	976					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ACTTCTGGAAACTTCTTCAGG	0.378												
MET	4233	broad.mit.edu	37	7	116339279	116339279	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:116339279C>T	uc003vij.2	+	2	328	c.141C>T	c.(139-141)ACC>ACT	p.T47T	MET_uc010lkh.2_Silent_p.T47T|MET_uc011knc.1_Silent_p.T47T|MET_uc011knd.1_Silent_p.T47T|MET_uc011kne.1_Silent_p.T47T|MET_uc011knf.1_Silent_p.T47T|MET_uc011kng.1_Silent_p.T47T|MET_uc011knh.1_Silent_p.T47T|MET_uc011kni.1_Silent_p.T47T|MET_uc003vii.1_Silent_p.T66T|MET_uc010lkg.2_Silent_p.T47T|MET_uc011kmz.1_Silent_p.T47T|MET_uc011kna.1_Silent_p.T47T|MET_uc011knb.1_Silent_p.T47T	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	47	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(8)		upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCAACTTCACCGCGGAAACAC	0.438			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)			
CFTR	1080	broad.mit.edu	37	7	117251692	117251692	+	Missense_Mutation	SNP	G	G	A	rs121909019		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:117251692G>A	uc003vjd.2	+	20	3329	c.3197G>A	c.(3196-3198)CGT>CAT	p.R1066H	CFTR_uc011knq.1_Missense_Mutation_p.R472H	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1066	Cytoplasmic (Potential).|ABC transmembrane type-1 2.		R -> H (in CF).|R -> L (in CF).|R -> C (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGACACTTCGTGCCTTCGGA	0.413									Cystic_Fibrosis			
FSCN3	29999	broad.mit.edu	37	7	127235581	127235581	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:127235581A>G	uc003vmd.1	+	2	584	c.365A>G	c.(364-366)GAC>GGC	p.D122G	FSCN3_uc003vmc.1_Missense_Mutation_p.D77G|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.1_Missense_Mutation_p.D122G	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	122						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						AATGGCAAGGACGTGTTTTGC	0.572												
FAM71F1	84691	broad.mit.edu	37	7	128355644	128355644	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:128355644C>T	uc003vno.1	+	1	202	c.149C>T	c.(148-150)GCG>GTG	p.A50V	FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.A50V	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	50										skin(1)	1						AACCCTGGAGCGGGCCTAGGT	0.532												
CPA5	93979	broad.mit.edu	37	7	130007829	130007829	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:130007829T>G	uc010lmd.1	+	13	1741	c.1121T>G	c.(1120-1122)CTC>CGC	p.L374R	CPA5_uc003vps.2_Missense_Mutation_p.L374R|CPA5_uc003vpt.2_Intron|CPA5_uc010lme.1_Missense_Mutation_p.L374R|CPA5_uc003vpu.1_Missense_Mutation_p.L374R|uc003vpv.1_RNA	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	374					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					AGCACCACCCTCTGTGAGTGA	0.572												
SVOPL	136306	broad.mit.edu	37	7	138333785	138333785	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:138333785G>A	uc011kqh.1	-	7	632	c.632C>T	c.(631-633)CCG>CTG	p.P211L	SVOPL_uc003vue.2_Missense_Mutation_p.P59L	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	211	Helical; (Potential).					integral to membrane	transmembrane transporter activity				0						GATGATGCCCGGGATGGAGGC	0.607												
TAS2R38	5726	broad.mit.edu	37	7	141673015	141673015	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:141673015C>T	uc003vwx.1	-	1	559	c.475G>A	c.(475-477)GTT>ATT	p.V159I		NM_176817	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	159	Helical; Name=4; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|skin(1)	2	Melanoma(164;0.0171)					AAGCACCAAACACAGAGGACA	0.443												
TAS2R60	338398	broad.mit.edu	37	7	143141232	143141232	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:143141232T>C	uc011ktg.1	+	1	687	c.687T>C	c.(685-687)CTT>CTC	p.L229L	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	229	Cytoplasmic (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					AGGCTCTCCTTACAACCTCAG	0.463												
OR2A25	392138	broad.mit.edu	37	7	143771428	143771428	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:143771428T>C	uc011ktx.1	+	1	116	c.116T>C	c.(115-117)TTG>TCG	p.L39S		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					TTCATTCTGTTGGGGAACGGG	0.537												
OR2A2	442361	broad.mit.edu	37	7	143807297	143807297	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:143807297G>A	uc011ktz.1	+	1	622	c.622G>A	c.(622-624)GGG>AGG	p.G208R		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					TGTCTTAGTCGGGCCTCTTTC	0.522												
CNTNAP2	26047	broad.mit.edu	37	7	146536847	146536847	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:146536847C>T	uc003weu.1	+	3	769	c.253C>T	c.(253-255)CTT>TTT	p.L85F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	85	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTATCAATGGCTTCAGGTTGA	0.468										HNSCC(39;0.1)		
ZNF786	136051	broad.mit.edu	37	7	148768876	148768876	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:148768876G>A	uc003wfh.2	-	4	1125	c.988C>T	c.(988-990)CGC>TGC	p.R330C	ZNF786_uc011kuk.1_Missense_Mutation_p.R293C|ZNF786_uc003wfi.2_Missense_Mutation_p.R244C	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GAGGCCCCGCGGCCTTCTCTC	0.711												
SSPO	23145	broad.mit.edu	37	7	149500639	149500639	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:149500639C>T	uc010lpk.2	+	55	8040	c.8040C>T	c.(8038-8040)GGC>GGT	p.G2680G		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2680					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGGTGGGCGAAGAGCTGA	0.667												
ZNF862	643641	broad.mit.edu	37	7	149543278	149543278	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:149543278G>A	uc010lpn.2	+	3	367	c.175G>A	c.(175-177)GGA>AGA	p.G59R	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	59	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						CCGCAAGTTCGGACGAGGGCC	0.552												
ABCB8	11194	broad.mit.edu	37	7	150739068	150739068	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:150739068G>A	uc003wil.3	+	15	1782	c.1689G>A	c.(1687-1689)ACG>ACA	p.T563T	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Silent_p.T546T|ABCB8_uc011kvd.1_Silent_p.T458T|ABCB8_uc003wim.3_Silent_p.T341T|ABCB8_uc003wik.3_Silent_p.T546T	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	563	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)		TGTTTGGGACGACCATCATGG	0.542												
MLL3	58508	broad.mit.edu	37	7	151841898	151841898	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:151841898G>A	uc003wla.2	-	55	14462	c.14243C>T	c.(14242-14244)GCA>GTA	p.A4748V	MLL3_uc003wkz.2_Missense_Mutation_p.A3862V|MLL3_uc003wkx.2_Missense_Mutation_p.A906V|MLL3_uc003wky.2_Missense_Mutation_p.A2308V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4748					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACTATAAGGTGCGTTCAGTTC	0.448			N		medulloblastoma							
MLL3	58508	broad.mit.edu	37	7	151877105	151877105	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:151877105G>T	uc003wla.2	-	37	7475	c.7256C>A	c.(7255-7257)CCT>CAT	p.P2419H	MLL3_uc003wkz.2_Missense_Mutation_p.P1480H|MLL3_uc003wky.2_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2419	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTGTTGAAGAGGCCCTGGATG	0.532			N		medulloblastoma							
MLL3	58508	broad.mit.edu	37	7	151891162	151891162	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:151891162G>A	uc003wla.2	-	31	4811	c.4592C>T	c.(4591-4593)GCG>GTG	p.A1531V	MLL3_uc003wkz.2_Missense_Mutation_p.A592V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1531					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTGAGTGTTCGCAGGACTAAG	0.398			N		medulloblastoma							
MLL3	58508	broad.mit.edu	37	7	151935847	151935847	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:151935847C>T	uc003wla.2	-	15	2816	c.2597G>A	c.(2596-2598)CGG>CAG	p.R866Q	MLL3_uc003wkz.2_5'UTR	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	866					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAAAATTTCCCGACCTTCTGA	0.418			N		medulloblastoma							
NOM1	64434	broad.mit.edu	37	7	156752777	156752777	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:156752777G>T	uc003wmy.2	+	4	1556	c.1541G>T	c.(1540-1542)AGG>ATG	p.R514M	NOM1_uc010lqp.1_5'Flank	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	514	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTTTCATTGAGGAAAGATGAT	0.438												
ANGPT2	285	broad.mit.edu	37	8	6389908	6389908	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:6389908T>A	uc003wqj.3	-	2	718	c.389A>T	c.(388-390)AAC>ATC	p.N130I	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.N130I|ANGPT2_uc010lri.2_Intron|ANGPT2_uc003wql.3_Missense_Mutation_p.N130I	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	130					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GTTCAACAGGTTTGTCCCTAT	0.448												
XKR6	286046	broad.mit.edu	37	8	10755924	10755924	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:10755924G>A	uc003wtk.1	-	3	1491	c.1464C>T	c.(1462-1464)ATC>ATT	p.I488I		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	488	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GCATCATTGCGATCCCAGCCA	0.527												
HR	55806	broad.mit.edu	37	8	21978590	21978590	+	Silent	SNP	C	C	T	rs151306827	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:21978590C>T	uc003xas.2	-	10	3020	c.2355G>A	c.(2353-2355)CCG>CCA	p.P785P	HR_uc003xat.2_Silent_p.P785P	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	785							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGGGCAGGGCCGGAGTGACGG	0.662												
BMP1	649	broad.mit.edu	37	8	22064891	22064891	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:22064891G>A	uc003xbg.2	+	18	2681	c.2437G>A	c.(2437-2439)GCC>ACC	p.A813T	BMP1_uc011kzc.1_Missense_Mutation_p.A562T|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	813	CUB 4.				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			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGGGCGAGACGCCAAGGCCCC	0.622												
TNFRSF10C	8794	broad.mit.edu	37	8	22972207	22972207	+	Silent	SNP	G	G	A	rs74480765	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:22972207G>A	uc003xcy.2	+	3	405	c.204G>A	c.(202-204)CCG>CCA	p.P68P	TNFRSF10C_uc011kzr.1_RNA	NM_003841	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily,	68					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCTGTAACCCGTGCACAGAGG	0.468												
LOXL2	4017	broad.mit.edu	37	8	23159604	23159604	+	Missense_Mutation	SNP	C	C	T	rs141432206	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:23159604C>T	uc003xdh.1	-	12	2408	c.2069G>A	c.(2068-2070)CGC>CAC	p.R690H	LOXL2_uc010lty.1_Missense_Mutation_p.R229H	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	690	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GATGTCATGGCGGTACATGTC	0.597												
DOCK5	80005	broad.mit.edu	37	8	25224467	25224467	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:25224467C>T	uc003xeg.2	+	31	3342	c.3205C>T	c.(3205-3207)CGC>TGC	p.R1069C	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.R783C|DOCK5_uc003xei.2_Missense_Mutation_p.R639C|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1069						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACAAGCCAAGCGCAACAAAAT	0.383												
DOCK5	80005	broad.mit.edu	37	8	25226177	25226177	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:25226177T>C	uc003xeg.2	+	33	3511	c.3374T>C	c.(3373-3375)ATC>ACC	p.I1125T	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.I839T|DOCK5_uc003xei.2_Missense_Mutation_p.I695T|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1125						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AAAGCCACAATCCCCATTTTC	0.443												
TRIM35	23087	broad.mit.edu	37	8	27145238	27145238	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:27145238G>A	uc003xfl.1	-	6	1393	c.1311C>T	c.(1309-1311)GGC>GGT	p.G437G	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	437	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		AAGACAGCTCGCCCTCCTCAC	0.682												
WRN	7486	broad.mit.edu	37	8	30924662	30924662	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:30924662T>C	uc003xio.3	+	6	1406	c.618T>C	c.(616-618)ACT>ACC	p.T206T		NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	206	Interaction with WRNIP1 (By similarity).|3'-5' exonuclease.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTCCTCTCACTGAGGACCAGA	0.378			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
FGFR1	2260	broad.mit.edu	37	8	38282215	38282215	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:38282215G>A	uc003xlp.2	-	7	1690	c.748C>T	c.(748-750)CGG>TGG	p.R250W	FGFR1_uc011lbo.1_Missense_Mutation_p.R248W|FGFR1_uc011lbp.1_Missense_Mutation_p.R161W|FGFR1_uc011lbq.1_Missense_Mutation_p.R159W|FGFR1_uc010lwk.2_Missense_Mutation_p.R242W|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.R90W|FGFR1_uc011lbt.1_Missense_Mutation_p.R159W|FGFR1_uc011lbu.1_Missense_Mutation_p.R281W|FGFR1_uc011lbv.1_Missense_Mutation_p.R248W|FGFR1_uc011lbw.1_Missense_Mutation_p.R161W|FGFR1_uc011lbx.1_Missense_Mutation_p.R161W|FGFR1_uc003xlv.2_Missense_Mutation_p.R161W|FGFR1_uc003xlu.2_Missense_Mutation_p.R159W	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	250	Extracellular (Potential).		R -> W (in KAL2).		axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGAGGGGACCGCTCTGTGGAA	0.602		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome					
FNTA	2339	broad.mit.edu	37	8	42939925	42939925	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:42939925T>C	uc003xps.2	+	8	966	c.918T>C	c.(916-918)CAT>CAC	p.H306H	FNTA_uc003xpt.2_Silent_p.H215H|FNTA_uc003xpu.2_Silent_p.H239H|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	306					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AACCAAGTCATAGTTCCCCCT	0.343												
PRKDC	5591	broad.mit.edu	37	8	48744483	48744483	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:48744483C>T	uc003xqi.2	-	61	8214	c.8157G>A	c.(8155-8157)GCG>GCA	p.A2719A	PRKDC_uc003xqj.2_Silent_p.A2719A|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2719	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCCGGCCGGCCGCACCTGGAG	0.557								NHEJ				
ST18	9705	broad.mit.edu	37	8	53049172	53049172	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:53049172C>T	uc003xqz.2	-	14	2434	c.2278G>A	c.(2278-2280)GCT>ACT	p.A760T	ST18_uc011ldq.1_Missense_Mutation_p.A407T|ST18_uc011ldr.1_Missense_Mutation_p.A725T|ST18_uc011lds.1_Missense_Mutation_p.A665T|ST18_uc003xra.2_Missense_Mutation_p.A760T	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	760						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGTTGGCAGCCATGAGGGAT	0.483												
NPBWR1	2831	broad.mit.edu	37	8	53852868	53852868	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:53852868G>A	uc011ldu.1	+	1	401	c.401G>A	c.(400-402)CGC>CAC	p.R134H		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	134	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				AGCGCCGACCGCTACCTGGTG	0.667												
RGS20	8601	broad.mit.edu	37	8	54791841	54791841	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:54791841A>G	uc003xrp.2	+	2	281	c.189A>G	c.(187-189)CCA>CCG	p.P63P	RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	63					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)			CACAGCTCCCAGACTCGCCCG	0.622												
SOX17	64321	broad.mit.edu	37	8	55371702	55371702	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:55371702A>G	uc003xsb.3	+	2	596	c.392A>G	c.(391-393)GAC>GGC	p.D131G		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	131	HMG box.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CACATGCAGGACCACCCCAAC	0.692												
YTHDF3	253943	broad.mit.edu	37	8	64100299	64100299	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:64100299G>A	uc003xuy.2	+	5	2046	c.1730G>A	c.(1729-1731)CGT>CAT	p.R577H	YTHDF3_uc010lys.2_Missense_Mutation_p.R521H|YTHDF3_uc003xuz.2_Missense_Mutation_p.R521H|YTHDF3_uc003xva.2_Missense_Mutation_p.R521H|YTHDF3_uc011len.1_Missense_Mutation_p.R521H	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	577											0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GAAGCCATGCGTAGGGTAAGA	0.383												
CSPP1	79848	broad.mit.edu	37	8	68102923	68102923	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:68102923G>A	uc003xxi.2	+	29	3380	c.3349G>A	c.(3349-3351)GTC>ATC	p.V1117I	ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.2_Missense_Mutation_p.V1082I|CSPP1_uc003xxk.2_Missense_Mutation_p.V737I|CSPP1_uc010lyw.2_Missense_Mutation_p.V177I	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	1117						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGAAGATGACGTCCTCCCTCC	0.488												
ARFGEF1	10565	broad.mit.edu	37	8	68138270	68138270	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:68138270A>G	uc003xxo.1	-	28	4455	c.4065T>C	c.(4063-4065)TCT>TCC	p.S1355S	ARFGEF1_uc003xxl.1_Silent_p.S809S|ARFGEF1_uc003xxn.1_Silent_p.S338S	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1355					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGGTCTATCAGACACATATT	0.368												
PI15	51050	broad.mit.edu	37	8	75737491	75737491	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:75737491G>A	uc003yal.2	+	2	186	c.7G>A	c.(7-9)GCA>ACA	p.A3T	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.A3T	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	3						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CAAAATGATAGCAATCTCTGC	0.478												
CRISPLD1	83690	broad.mit.edu	37	8	75937828	75937828	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:75937828G>A	uc003yan.2	+	13	1667	c.1292G>A	c.(1291-1293)CGT>CAT	p.R431H	CRISPLD1_uc011lfk.1_Missense_Mutation_p.R243H|CRISPLD1_uc011lfl.1_Missense_Mutation_p.R243H	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	431	LCCL 2.					extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CATTATGCTCGTGTAATTGGA	0.249												
ZFHX4	79776	broad.mit.edu	37	8	77616881	77616881	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:77616881G>A	uc003yav.2	+	2	945	c.558G>A	c.(556-558)TCG>TCA	p.S186S	ZFHX4_uc003yat.1_Silent_p.S186S|ZFHX4_uc003yau.1_Silent_p.S186S|ZFHX4_uc003yaw.1_Silent_p.S186S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	186						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCTATGTCGTTCTACCCAC	0.483										HNSCC(33;0.089)		
ZFHX4	79776	broad.mit.edu	37	8	77618388	77618388	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:77618388G>A	uc003yav.2	+	2	2452	c.2065G>A	c.(2065-2067)GGT>AGT	p.G689S	ZFHX4_uc003yat.1_Missense_Mutation_p.G689S|ZFHX4_uc003yau.1_Missense_Mutation_p.G689S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G689S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	689						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCTTGCCCGGGGTGAGAGTTA	0.517										HNSCC(33;0.089)		
ZFHX4	79776	broad.mit.edu	37	8	77763452	77763452	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:77763452G>A	uc003yav.2	+	10	4547	c.4160G>A	c.(4159-4161)CGC>CAC	p.R1387H	ZFHX4_uc003yau.1_Missense_Mutation_p.R1432H|ZFHX4_uc003yaw.1_Missense_Mutation_p.R1387H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1387	C2H2-type 11.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCTGCCAGCGCAGTTTCCGT	0.468										HNSCC(33;0.089)		
ZFHX4	79776	broad.mit.edu	37	8	77775464	77775464	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:77775464C>A	uc003yav.2	+	11	9766	c.9379C>A	c.(9379-9381)CCT>ACT	p.P3127T		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3123	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			tcctcctcctcctccttcatc	0.363										HNSCC(33;0.089)		
ZNF704	619279	broad.mit.edu	37	8	81577212	81577212	+	Silent	SNP	C	C	T	rs141074182		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:81577212C>T	uc003yby.1	-	6	997	c.765G>A	c.(763-765)CCG>CCA	p.P255P		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	255						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			AAGGTGAGACCGGGGCCAGGC	0.522												
DCAF4L2	138009	broad.mit.edu	37	8	88885905	88885905	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:88885905A>G	uc003ydz.2	-	1	392	c.295T>C	c.(295-297)TAC>CAC	p.Y99H		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	99										ovary(1)	1						ATGATGCCGTACTTGGAGCCT	0.542												
CDH17	1015	broad.mit.edu	37	8	95188798	95188798	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:95188798T>C	uc003ygh.2	-	5	520	c.395A>G	c.(394-396)GAA>GGA	p.E132G	CDH17_uc011lgo.1_Missense_Mutation_p.E132G|CDH17_uc011lgp.1_Missense_Mutation_p.E132G	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	132	Extracellular (Potential).|Cadherin 2.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TACTGAGCCTTCGTACTTTGA	0.502												
GEM	2669	broad.mit.edu	37	8	95272569	95272569	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:95272569G>A	uc003ygj.2	-	2	412	c.163C>T	c.(163-165)CGC>TGC	p.R55C	GEM_uc003ygi.2_Missense_Mutation_p.R55C	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	55					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			lung(1)	1	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAGCTTCGGCGGCAGTGGTCC	0.602												
KIAA1429	25962	broad.mit.edu	37	8	95556069	95556069	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:95556069G>A	uc003ygo.1	-	2	178	c.165C>T	c.(163-165)GAC>GAT	p.D55D	KIAA1429_uc003ygp.2_Silent_p.D55D	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	55					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATGCTCTATTGTCTGGCAGAC	0.353												
PLEKHF2	79666	broad.mit.edu	37	8	96166569	96166569	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:96166569A>G	uc003yhn.1	+	2	544	c.297A>G	c.(295-297)GGA>GGG	p.G99G		NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	phafin 2	99	PH.					transport vesicle	metal ion binding|protein binding			ovary(2)	2	Breast(36;3.18e-05)					TAAGGAATGGATGGCTAATCA	0.338												
STK3	6788	broad.mit.edu	37	8	99468194	99468194	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:99468194C>T	uc003yip.2	-	11	1493	c.1352G>A	c.(1351-1353)CGG>CAG	p.R451Q	STK3_uc003yio.2_Missense_Mutation_p.R479Q	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	451	SARAH.|Potential.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TGCTTTTAACCGCATCTGTAG	0.388												
CTHRC1	115908	broad.mit.edu	37	8	104388039	104388039	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:104388039C>T	uc003ylk.2	+	2	323	c.224C>T	c.(223-225)CCG>CTG	p.P75L	CTHRC1_uc011lhq.1_Missense_Mutation_p.P75L	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	75	Collagen-like.					collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			AATGGCATTCCGGGTACACCT	0.522												
TTC35	9694	broad.mit.edu	37	8	109489111	109489111	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:109489111G>C	uc003ymw.1	+	9	727	c.692G>C	c.(691-693)GGA>GCA	p.G231A		NM_014673	NP_055488	Q15006	TTC35_HUMAN	tetratricopeptide repeat domain 35	231						endoplasmic reticulum|nucleus	binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			GCTTTGTTTGGACTTTATATG	0.348												
TMEM74	157753	broad.mit.edu	37	8	109796626	109796626	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:109796626C>T	uc003ymy.1	-	2	807	c.702G>A	c.(700-702)GCG>GCA	p.A234A	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	234	Helical; (Potential).				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GGCAGAGCCCCGCAATCACAC	0.602												
TRHR	7201	broad.mit.edu	37	8	110099973	110099973	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:110099973G>A	uc003ymz.3	+	1	248	c.232G>A	c.(232-234)GCA>ACA	p.A78T		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	78	Helical; Name=2; (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTTGGTGGCCGCAGGCCTCCC	0.512												
PKHD1L1	93035	broad.mit.edu	37	8	110441683	110441683	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:110441683C>T	uc003yne.2	+	26	3219	c.3115C>T	c.(3115-3117)CAG>TAG	p.Q1039*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1039	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCCAGTCAACAGCCACAGGT	0.353										HNSCC(38;0.096)		
PKHD1L1	93035	broad.mit.edu	37	8	110478930	110478930	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:110478930G>A	uc003yne.2	+	50	8641	c.8537G>A	c.(8536-8538)CGT>CAT	p.R2846H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2846	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCTTTCACCGTTTAGCGTTC	0.438										HNSCC(38;0.096)		
TRPS1	7227	broad.mit.edu	37	8	116599370	116599370	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:116599370C>T	uc003ynz.2	-	4	2978	c.2519G>A	c.(2518-2520)CGA>CAA	p.R840Q	TRPS1_uc011lhy.1_Missense_Mutation_p.R844Q|TRPS1_uc003yny.2_Missense_Mutation_p.R853Q|TRPS1_uc010mcy.2_Missense_Mutation_p.R840Q	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	840					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATAAATAGGTCGCGCCAGATG	0.612									Langer-Giedion_syndrome			
TRPS1	7227	broad.mit.edu	37	8	116599476	116599476	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:116599476A>G	uc003ynz.2	-	4	2872	c.2413T>C	c.(2413-2415)TCA>CCA	p.S805P	TRPS1_uc011lhy.1_Missense_Mutation_p.S809P|TRPS1_uc003yny.2_Missense_Mutation_p.S818P|TRPS1_uc010mcy.2_Missense_Mutation_p.S805P	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	805	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGGTGTATGACGGACTCCCC	0.567									Langer-Giedion_syndrome			
SLC30A8	169026	broad.mit.edu	37	8	118165289	118165289	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:118165289G>A	uc003yoh.2	+	3	608	c.378G>A	c.(376-378)AAG>AAA	p.K126K	SLC30A8_uc010mcz.2_Silent_p.K77K|SLC30A8_uc011lia.1_Silent_p.K77K|SLC30A8_uc003yog.2_Silent_p.K77K	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	126	Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGTCATCGAAGCCTCCCTCTA	0.517												
COL14A1	7373	broad.mit.edu	37	8	121298186	121298186	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:121298186A>T	uc003yox.2	+	33	4319	c.4054A>T	c.(4054-4056)ATT>TTT	p.I1352F	COL14A1_uc003yoz.2_Missense_Mutation_p.I317F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1352	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATTAGGAAAATTTTTTATGG	0.313												
WISP1	8840	broad.mit.edu	37	8	134232918	134232918	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:134232918C>T	uc003yub.2	+	3	520	c.444C>T	c.(442-444)GAC>GAT	p.D148D	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	148	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGTGCATCGACGGCGCGGTGG	0.667												
ZFAT	57623	broad.mit.edu	37	8	135622763	135622763	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:135622763G>A	uc003yup.2	-	4	759	c.584C>T	c.(583-585)GCG>GTG	p.A195V	ZFAT_uc003yun.2_Missense_Mutation_p.A183V|ZFAT_uc003yuo.2_Missense_Mutation_p.A183V|ZFAT_uc010meh.2_Missense_Mutation_p.A183V|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A183V|ZFAT_uc010mej.2_Intron|ZFAT_uc003yur.2_Missense_Mutation_p.A183V	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGGTTTCTTCGCCCCAGAAAG	0.488												
SLC45A4	57210	broad.mit.edu	37	8	142228560	142228560	+	Silent	SNP	G	G	A	rs12679511		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:142228560G>A	uc003ywd.1	-	4	1334	c.1026C>T	c.(1024-1026)GAC>GAT	p.D342D	SLC45A4_uc003ywc.1_Silent_p.D342D|SLC45A4_uc010meq.1_Silent_p.D340D	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	393					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)			CGCCGAGGGCGTCTTTTGTGG	0.632												
FLJ43860	389690	broad.mit.edu	37	8	142446864	142446864	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:142446864C>T	uc003ywi.2	-	27	3402	c.3321G>A	c.(3319-3321)ACG>ACA	p.T1107T	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_Intron	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1107							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCGGTGCAGCGTGTCTGACA	0.652												
JRK	8629	broad.mit.edu	37	8	143746320	143746320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:143746320C>T	uc003ywo.2	-	2	1672	c.1158G>A	c.(1156-1158)TGG>TGA	p.W386*	JRK_uc003ywp.2_Nonsense_Mutation_p.W386*|JRK_uc010mew.1_Nonsense_Mutation_p.W386*	NM_001077527	NP_001070995			jerky isoform b												0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				caaccgacggccacagcttcc	0												
JRK	8629	broad.mit.edu	37	8	143747244	143747244	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:143747244C>T	uc003ywo.2	-	2	748	c.234G>A	c.(232-234)CGG>CGA	p.R78R	JRK_uc003ywp.2_Silent_p.R78R|JRK_uc010mew.1_Silent_p.R78R	NM_001077527	NP_001070995			jerky isoform b												0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				gcagcgtgcgccgctgctcca	0												
C8orf31	286122	broad.mit.edu	37	8	144124626	144124626	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:144124626G>A	uc003yxp.1	+	3	485	c.133G>A	c.(133-135)GCA>ACA	p.A45T	C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	hypothetical protein LOC286122	45										ovary(1)	1	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGGACCACCGCATTGCAGAG	0.627												
C8orf73	642475	broad.mit.edu	37	8	144652731	144652731	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:144652731G>C	uc010mff.2	-	5	861	c.817C>G	c.(817-819)CTG>GTG	p.L273V	C8orf73_uc010mfg.1_Missense_Mutation_p.L273V	NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	hypothetical protein LOC642475	273							binding			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCTTGTGCAGCTGTGTGACC	0.637												
SCRIB	23513	broad.mit.edu	37	8	144893468	144893468	+	Silent	SNP	G	G	A	rs145794409		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:144893468G>A	uc003yzp.1	-	10	961	c.954C>T	c.(952-954)AAC>AAT	p.N318N	SCRIB_uc003yzo.1_Silent_p.N318N	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	318	LRR 13.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCCGGTCCACGTTGAGGTTGG	0.667												
PLEC	5339	broad.mit.edu	37	8	144998018	144998018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:144998018G>A	uc003zaf.1	-	31	6660	c.6490C>T	c.(6490-6492)CGA>TGA	p.R2164*	PLEC_uc003zab.1_Nonsense_Mutation_p.R2027*|PLEC_uc003zac.1_Nonsense_Mutation_p.R2031*|PLEC_uc003zad.2_Nonsense_Mutation_p.R2027*|PLEC_uc003zae.1_Nonsense_Mutation_p.R1995*|PLEC_uc003zag.1_Nonsense_Mutation_p.R2005*|PLEC_uc003zah.2_Nonsense_Mutation_p.R2013*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R2054*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2164	Central fibrous rod domain.|Potential.				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						TGCTCCGCTCGCTCCCGCAGG	0.716												
GRINA	2907	broad.mit.edu	37	8	145066726	145066726	+	Missense_Mutation	SNP	C	C	T	rs145548367		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:145066726C>T	uc003zan.1	+	6	1082	c.916C>T	c.(916-918)CGC>TGC	p.R306C	GRINA_uc003zao.1_Missense_Mutation_p.R306C|GRINA_uc003zap.1_Missense_Mutation_p.R306C	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	306						integral to membrane				central_nervous_system(1)	1	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATCCGGAACCGCATCCTGGA	0.622												
HEATR7A	727957	broad.mit.edu	37	8	145234370	145234370	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:145234370T>C	uc003zbk.3	+	5	418	c.181T>C	c.(181-183)TAC>CAC	p.Y61H	HEATR7A_uc003zbg.2_Missense_Mutation_p.Y61H|HEATR7A_uc003zbh.3_Missense_Mutation_p.Y61H|HEATR7A_uc003zbi.3_Missense_Mutation_p.Y61H|HEATR7A_uc011lla.1_Missense_Mutation_p.Y61H|HEATR7A_uc010mft.2_Missense_Mutation_p.Y61H	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	61							binding				0						GGCACACCCATACCGAGCAGC	0.622												
KIFC2	90990	broad.mit.edu	37	8	145698298	145698298	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:145698298G>A	uc003zcz.2	+	17	2047	c.1982G>A	c.(1981-1983)CGC>CAC	p.R661H	KIFC2_uc003zda.2_Missense_Mutation_p.R49H	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	661	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ACCATAAACCGCTCGCTGCTG	0.652												
COMMD5	28991	broad.mit.edu	37	8	146076123	146076123	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:146076123G>A	uc003zem.2	-	2	732	c.601C>T	c.(601-603)CGG>TGG	p.R201W	COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Missense_Mutation_p.R201W|COMMD5_uc003zeo.3_Missense_Mutation_p.R201W|COMMD5_uc010mgf.2_Missense_Mutation_p.R201W	NM_001081004	NP_001074473	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	201	COMM.					nucleus	protein binding			ovary(1)	1	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			ACGCTGTACCGCAGCTCCTGG	0.597												
VLDLR	7436	broad.mit.edu	37	9	2635519	2635519	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:2635519G>T	uc003zhk.1	+	2	546	c.149G>T	c.(148-150)TGG>TTG	p.W50L	VLDLR_uc003zhl.1_Missense_Mutation_p.W50L|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.W50L	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	50	Extracellular (Potential).|LDL-receptor class A 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ACGCTGTTGTGGAAATGTGAT	0.408												
VLDLR	7436	broad.mit.edu	37	9	2646515	2646515	+	Nonsense_Mutation	SNP	C	C	T	rs141396971		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:2646515C>T	uc003zhk.1	+	11	2063	c.1666C>T	c.(1666-1668)CGA>TGA	p.R556*	VLDLR_uc003zhl.1_Nonsense_Mutation_p.R556*|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Nonsense_Mutation_p.R515*	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	556	LDL-receptor class B 3.|Extracellular (Potential).				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTCTGACTTGCGAGAGCCTGC	0.478												
MPDZ	8777	broad.mit.edu	37	9	13112118	13112118	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:13112118T>C	uc010mhy.2	-	41	5593	c.5542A>G	c.(5542-5544)ATC>GTC	p.I1848V	MPDZ_uc003zkx.3_Intron|MPDZ_uc003zky.3_Missense_Mutation_p.I411V|MPDZ_uc010mib.2_Missense_Mutation_p.I582V|MPDZ_uc010mhx.2_Missense_Mutation_p.I699V|MPDZ_uc011lmm.1_Missense_Mutation_p.I736V|MPDZ_uc003zkz.3_Missense_Mutation_p.I570V|MPDZ_uc010mhz.2_Missense_Mutation_p.I1844V|MPDZ_uc011lmn.1_Missense_Mutation_p.I1815V|MPDZ_uc003zlb.3_Missense_Mutation_p.I1848V	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1877	PDZ 12.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		CCTCCAGCAATGCTGATTCCC	0.438												
NFIB	4781	broad.mit.edu	37	9	14125655	14125655	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:14125655C>T	uc003zle.2	-	7	1471	c.1036G>A	c.(1036-1038)GGA>AGA	p.G346R	NFIB_uc003zld.2_Missense_Mutation_p.G94R|NFIB_uc003zlf.2_Missense_Mutation_p.G346R|NFIB_uc011lmo.1_Missense_Mutation_p.G346R	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	346					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CCAGGTATTCCGGGATGGTGG	0.522			T	MYB|HGMA2	adenoid cystic carcinoma|lipoma							
ZDHHC21	340481	broad.mit.edu	37	9	14662273	14662273	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:14662273C>T	uc003zli.2	-	6	775	c.305G>A	c.(304-306)CGT>CAT	p.R102H	ZDHHC21_uc003zlg.1_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	102	DHHC-type.				nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(50;4.31e-06)		GTGATGGGAACGCTTTGGTCT	0.418												
FREM1	158326	broad.mit.edu	37	9	14776179	14776179	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:14776179G>A	uc003zlm.2	-	25	5055	c.4465C>T	c.(4465-4467)CGG>TGG	p.R1489W	FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Missense_Mutation_p.R25W	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1489	CSPG 11.				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)		TGCTCGGTCCGCAGTCCATTG	0.522												
FREM1	158326	broad.mit.edu	37	9	14842482	14842482	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:14842482G>T	uc003zlm.2	-	9	2160	c.1570C>A	c.(1570-1572)CTC>ATC	p.L524I	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	524	CSPG 3.				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)		TTGGTTATGAGGAACGGGGGA	0.507												
CNTLN	54875	broad.mit.edu	37	9	17235698	17235698	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:17235698C>T	uc003zmz.2	+	4	603	c.577C>T	c.(577-579)CGG>TGG	p.R193W	CNTLN_uc003zmx.3_Missense_Mutation_p.R193W|CNTLN_uc003zmy.2_Missense_Mutation_p.R193W|CNTLN_uc010mio.2_5'Flank	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	193						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CCTTGTAAAACGGAAAATTGC	0.299												
LINGO2	158038	broad.mit.edu	37	9	27949660	27949660	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:27949660T>C	uc003zqu.1	-	2	1204	c.1010A>G	c.(1009-1011)GAA>GGA	p.E337G	LINGO2_uc010mjf.1_Missense_Mutation_p.E337G|LINGO2_uc003zqv.1_Missense_Mutation_p.E337G	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	337	Extracellular (Potential).|LRR 12.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GACATTCTCTTCCAAAGTTTC	0.557												
DNAJA1	3301	broad.mit.edu	37	9	33029981	33029981	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:33029981T>C	uc003zsd.1	+	4	592	c.409T>C	c.(409-411)TGT>CGT	p.C137R	DNAJA1_uc011lnt.1_5'UTR|DNAJA1_uc003zse.1_Missense_Mutation_p.C137R	NM_001539	NP_001530	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	137	CR-type.|CXXCXGXG motif.	Zinc 1 (By similarity).			protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TTGTGACAAATGTGAAGGTAC	0.313												
UNC13B	10497	broad.mit.edu	37	9	35386181	35386181	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:35386181C>A	uc003zwq.2	+	23	3030	c.2738C>A	c.(2737-2739)CCT>CAT	p.P913H	UNC13B_uc003zwr.2_Missense_Mutation_p.P913H	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	913					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)			CTGCAAAGCCCTCCAAGAGCC	0.483												
RUSC2	9853	broad.mit.edu	37	9	35547647	35547647	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:35547647G>A	uc003zww.2	+	2	1384	c.1129G>A	c.(1129-1131)GCT>ACT	p.A377T	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A377T	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	377						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAGCAGTGGCTGACCTCAC	0.552												
TESK1	7016	broad.mit.edu	37	9	35607366	35607366	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:35607366G>A	uc003zxa.2	+	5	916	c.580G>A	c.(580-582)GTG>ATG	p.V194M	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Intron	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	194	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCGCTGTCGTGGGTGACTT	0.552												
NPR2	4882	broad.mit.edu	37	9	35792488	35792488	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:35792488C>T	uc003zyd.2	+	1	83	c.83C>T	c.(82-84)GCG>GTG	p.A28V	NPR2_uc010mlb.2_Missense_Mutation_p.A28V	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	28	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGACGCTGGCGGTGGTGCTG	0.687												
TMEM8B	51754	broad.mit.edu	37	9	35846378	35846378	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:35846378G>A	uc003zym.2	+	9	1512	c.497G>A	c.(496-498)CGG>CAG	p.R166Q	TMEM8B_uc003zyk.2_Missense_Mutation_p.R166Q|TMEM8B_uc003zyl.2_Missense_Mutation_p.R333Q|TMEM8B_uc003zyn.2_Silent_p.S61S|TMEM8B_uc003zyo.2_Missense_Mutation_p.R166Q	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	166	Extracellular (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						GTGGGGCCTCGGTGAGCGGTG	0.726												
ZCCHC7	84186	broad.mit.edu	37	9	37354736	37354736	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:37354736G>A	uc003zzq.2	+	8	1286	c.1113G>A	c.(1111-1113)CCG>CCA	p.P371P	ZCCHC7_uc011lqh.1_Silent_p.P81P|ZCCHC7_uc011lqi.1_Silent_p.P370P|ZCCHC7_uc010mlt.2_Silent_p.P370P	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	371							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		TGTATGACCCGTCTCCAGTAT	0.343												
ZBTB5	9925	broad.mit.edu	37	9	37442433	37442433	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:37442433C>T	uc003zzx.2	-	2	316	c.116G>A	c.(115-117)CGC>CAC	p.R39H		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	39	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CAGCACGGAGCGGTGGGCTTT	0.517												
TMEM2	23670	broad.mit.edu	37	9	74319518	74319518	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:74319518A>G	uc011lsa.1	-	18	3727	c.3187T>C	c.(3187-3189)TTC>CTC	p.F1063L	TMEM2_uc011lrz.1_Missense_Mutation_p.F56L|TMEM2_uc010mos.2_Missense_Mutation_p.F1000L|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1063						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TACTTGTTGAAGTTGACGAGG	0.423												
AGTPBP1	23287	broad.mit.edu	37	9	88248183	88248183	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:88248183C>T	uc011ltd.1	-	13	1442	c.1409G>A	c.(1408-1410)GGC>GAC	p.G470D	AGTPBP1_uc004aod.3_Missense_Mutation_p.G96D|AGTPBP1_uc011ltc.1_Missense_Mutation_p.G368D|AGTPBP1_uc010mqc.2_Missense_Mutation_p.G430D|AGTPBP1_uc011lte.1_Missense_Mutation_p.G482D	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	470					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						TCTTAAATTGCCAGAATTCCC	0.368												
NOL8	55035	broad.mit.edu	37	9	95076713	95076713	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:95076713G>A	uc004arv.2	-	7	2531	c.2194C>T	c.(2194-2196)CGG>TGG	p.R732W	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.R664W	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	732					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						TTGATTTCCCGAGTGTCCTTG	0.438												
NINJ1	4814	broad.mit.edu	37	9	95887239	95887239	+	Missense_Mutation	SNP	G	G	A	rs138077782		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:95887239G>A	uc004atg.3	-	3	481	c.410C>T	c.(409-411)ACG>ATG	p.T137M	NINJ1_uc004ath.3_Missense_Mutation_p.T87M	NM_004148	NP_004139	Q92982	NINJ1_HUMAN	ninjurin 1	137	Helical; (Potential).				cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)	1						CCCGAAGGCCGTGATGAAGAT	0.602												
WNK2	65268	broad.mit.edu	37	9	96009888	96009888	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:96009888G>A	uc004ati.1	+	7	1606	c.1606G>A	c.(1606-1608)GTG>ATG	p.V536M	WNK2_uc011lud.1_Missense_Mutation_p.V536M|WNK2_uc004atj.2_Missense_Mutation_p.V536M|WNK2_uc004atk.2_Missense_Mutation_p.V173M|WNK2_uc010mrc.1_Missense_Mutation_p.V536M|WNK2_uc010mrd.1_Missense_Mutation_p.V173M	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	536					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CCGTGACCGCGTGGCCTTGAT	0.622												
WNK2	65268	broad.mit.edu	37	9	96024184	96024184	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:96024184C>T	uc004ati.1	+	12	3155	c.3155C>T	c.(3154-3156)CCG>CTG	p.P1052L	WNK2_uc011lud.1_Missense_Mutation_p.P1052L|WNK2_uc004atj.2_Missense_Mutation_p.P1052L|WNK2_uc004atk.2_Missense_Mutation_p.P689L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1052					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						GTCCTCTCGCCGCCTCTGCCG	0.692												
PHF2	5253	broad.mit.edu	37	9	96437282	96437282	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:96437282C>T	uc004aub.2	+	19	2847	c.2700C>T	c.(2698-2700)GAC>GAT	p.D900D	PHF2_uc011lug.1_Silent_p.D783D|PHF2_uc004auc.2_Silent_p.D320D	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	900					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 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(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AAGGCTCAGACGACGCTCCCT	0.577												
HIATL1	84641	broad.mit.edu	37	9	97203361	97203361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:97203361C>T	uc004aur.2	+	5	759	c.490C>T	c.(490-492)CGA>TGA	p.R164*	HIATL1_uc011luh.1_Nonsense_Mutation_p.R99*	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	164	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GGAGCACGAGCGAAGTACAGC	0.348												
PTCH1	5727	broad.mit.edu	37	9	98241348	98241348	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:98241348T>C	uc004avk.3	-	8	1337	c.1149A>G	c.(1147-1149)TCA>TCG	p.S383S	PTCH1_uc010mro.2_Silent_p.S232S|PTCH1_uc010mrp.2_Silent_p.S232S|PTCH1_uc010mrq.2_Silent_p.S232S|PTCH1_uc004avl.3_Silent_p.S232S|PTCH1_uc010mrr.2_Silent_p.S317S|PTCH1_uc004avm.3_Silent_p.S382S|PTCH1_uc010mrs.1_Silent_p.S103S	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	383	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGTTGATGTGTGAGACATACT	0.557									Basal_Cell_Nevus_syndrome			
HSD17B3	3293	broad.mit.edu	37	9	99064279	99064279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:99064279C>T	uc004awa.1	-	1	156	c.108G>A	c.(106-108)TGG>TGA	p.W36*	HSD17B3_uc010msc.1_Nonsense_Mutation_p.W36*	NM_000197	NP_000188	P37058	DHB3_HUMAN	estradiol 17 beta-dehydrogenase 3	36					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity				0		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	GCAAAACTTTCCAGTAGTTCA	0.498												
ZNF510	22869	broad.mit.edu	37	9	99521474	99521474	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:99521474A>G	uc004awn.1	-	6	1827	c.1638T>C	c.(1636-1638)TGT>TGC	p.C546C	ZNF510_uc004awo.1_Silent_p.C546C	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	546	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				CACATTCATTACACTGGTAAG	0.383												
ANKS6	203286	broad.mit.edu	37	9	101552652	101552652	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:101552652A>G	uc004ayu.2	-	2	617	c.596T>C	c.(595-597)ATC>ACC	p.I199T	ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	199	ANK 5.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				CCCGTGCTGGATGGCAGCCAT	0.682												
TNC	3371	broad.mit.edu	37	9	117849113	117849113	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:117849113G>A	uc004bjj.3	-	3	1259	c.897C>T	c.(895-897)TGC>TGT	p.C299C	TNC_uc010mvf.2_Silent_p.C299C	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	299	EGF-like 5.				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						CATCACACACGCACTCATTCT	0.567												
CDK5RAP2	55755	broad.mit.edu	37	9	123298694	123298694	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:123298694G>A	uc004bkf.2	-	7	799	c.618C>T	c.(616-618)CAC>CAT	p.H206H	CDK5RAP2_uc004bkg.2_Silent_p.H206H|CDK5RAP2_uc011lxw.1_Translation_Start_Site|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Translation_Start_Site|CDK5RAP2_uc011lya.1_Translation_Start_Site|CDK5RAP2_uc004bkh.1_Silent_p.H206H|CDK5RAP2_uc004bki.2_Silent_p.H5H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	206					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						AGTCCCCCTCGTGCATCTTCT	0.547												
PSMD5	5711	broad.mit.edu	37	9	123593733	123593733	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:123593733A>G	uc004bko.2	-	4	456	c.437T>C	c.(436-438)ATC>ACC	p.I146T	PSMD5_uc011lye.1_Intron	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	proteasome 26S non-ATPase subunit 5	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding				0						CAGGGATTTGATAGCCTTATA	0.353												
OR1B1	347169	broad.mit.edu	37	9	125391779	125391779	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:125391779C>T	uc011lyz.1	-	1	36	c.36G>A	c.(34-36)CCG>CCA	p.P12P		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCAAAAAAACCGGAGAGTGTG	0.463												
OR5C1	392391	broad.mit.edu	37	9	125551337	125551337	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:125551337C>T	uc011lzd.1	+	1	126	c.126C>T	c.(124-126)AGC>AGT	p.S42S		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						ACCTGGTGAGCCTGCTGGGAA	0.617												
RC3H2	54542	broad.mit.edu	37	9	125617540	125617540	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:125617540C>T	uc010mwc.1	-	15	2979	c.2738G>A	c.(2737-2739)CGT>CAT	p.R913H	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.R913H|RC3H2_uc004bne.3_Missense_Mutation_p.R913H	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	913						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						GTAACCTGTACGGGAAGATCT	0.438												
STRBP	55342	broad.mit.edu	37	9	125946468	125946468	+	Translation_Start_Site	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:125946468G>A	uc004bns.2	-	3	376	c.-54C>T	c.(-56--52)GACGA>GATGA		STRBP_uc004bnt.2_Translation_Start_Site|STRBP_uc004bnu.2_Translation_Start_Site|STRBP_uc004bnv.2_Translation_Start_Site	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|skin(1)	2						CTTTCTTGTCGTCTTCACTAG	0.383												
OLFML2A	169611	broad.mit.edu	37	9	127549469	127549469	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:127549469C>T	uc004bov.2	+	2	419	c.306C>T	c.(304-306)AAC>AAT	p.N102N	OLFML2A_uc010mwr.1_Silent_p.N102N	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	102											0						CCTGTGAGAACGAGTGGAAGA	0.592												
MAPKAP1	79109	broad.mit.edu	37	9	128419995	128419995	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:128419995G>A	uc004bpv.2	-	4	766	c.433C>T	c.(433-435)CGC>TGC	p.R145C	MAPKAP1_uc011lzv.1_Translation_Start_Site|MAPKAP1_uc004bpw.2_Translation_Start_Site|MAPKAP1_uc004bpx.2_Translation_Start_Site|MAPKAP1_uc004bpy.2_Missense_Mutation_p.R145C|MAPKAP1_uc004bpz.2_Missense_Mutation_p.R145C|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bqa.2_Missense_Mutation_p.R145C|MAPKAP1_uc010mxc.1_Translation_Start_Site	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	145	Interaction with MAP3K2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4						TGTTCTAGGCGTACAGATAAT	0.393												
ST6GALNAC6	30815	broad.mit.edu	37	9	130653011	130653011	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:130653011C>T	uc004bso.1	-	5	728	c.609G>A	c.(607-609)GCG>GCA	p.A203A	ST6GALNAC6_uc004bsn.1_Silent_p.A169A|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Silent_p.A203A|ST6GALNAC6_uc004bsq.1_Silent_p.A169A|ST6GALNAC6_uc004bsr.2_Silent_p.A169A|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	203	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						ACACCAGGCCCGCTCGCTGGA	0.622												
PTGES2	80142	broad.mit.edu	37	9	130889772	130889772	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:130889772C>T	uc004bti.2	-	1	703	c.225G>A	c.(223-225)ACG>ACA	p.T75T	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Intron|PTGES2_uc004btl.2_Intron|PTGES2_uc004btm.2_Intron|LOC389791_uc004btn.2_5'Flank	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	75	Cytoplasmic (Potential).				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity				0						GCCACCGCGCCGTGTGGTACA	0.677												
CCBL1	883	broad.mit.edu	37	9	131599998	131599998	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:131599998A>C	uc004bwh.2	-	6	718	c.533T>G	c.(532-534)CTG>CGG	p.L178R	CCBL1_uc004bwf.2_Missense_Mutation_p.L212R|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.L178R|CCBL1_uc004bwj.2_Missense_Mutation_p.L128R|CCBL1_uc011mbl.1_Missense_Mutation_p.L272R|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Intron	NM_004059	NP_004050	Q16773	KAT1_HUMAN	kynurenine aminotransferase I isoform a	178					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GTTGAGGACCAGGGCTTTGGT	0.607												
NUP188	23511	broad.mit.edu	37	9	131745254	131745254	+	Silent	SNP	G	G	A	rs148151804	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:131745254G>A	uc004bws.1	+	17	1765	c.1743G>A	c.(1741-1743)TCG>TCA	p.S581S	NUP188_uc004bwu.2_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	581					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CAGACCTGTCGATAGCAGACT	0.527												
NCS1	23413	broad.mit.edu	37	9	132980177	132980177	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:132980177C>T	uc004bzi.2	+	3	242	c.156C>T	c.(154-156)TAC>TAT	p.Y52Y	NCS1_uc010myz.1_Silent_p.Y34Y	NM_014286	NP_055101	P62166	NCS1_HUMAN	frequenin homolog isoform 1	52	EF-hand 1.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding				0						AGAAGATCTACAAGCAATTCT	0.547												
NUP214	8021	broad.mit.edu	37	9	134010375	134010375	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:134010375A>G	uc004cag.2	+	8	1033	c.922A>G	c.(922-924)AGT>GGT	p.S308G	NUP214_uc004cah.2_Missense_Mutation_p.S308G|NUP214_uc004caf.1_Missense_Mutation_p.S308G	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	308					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTACTACCTCAGTTACATTGA	0.448			T	DEK|SET|ABL1	AML|T-ALL							
NTNG2	84628	broad.mit.edu	37	9	135073571	135073571	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:135073571C>T	uc004cbh.2	+	3	1208	c.432C>T	c.(430-432)GGC>GGT	p.G144G		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	144	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TCGAGTACGGCCGGCCCACGG	0.632												
SETX	23064	broad.mit.edu	37	9	135224793	135224793	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:135224793G>A	uc004cbk.2	-	3	206	c.23C>T	c.(22-24)ACG>ATG	p.T8M		NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	8					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACCACCTGGCGTACACCAACA	0.473												
SARDH	1757	broad.mit.edu	37	9	136568075	136568075	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:136568075T>G	uc004cep.3	-	13	1765	c.1631A>C	c.(1630-1632)GAC>GCC	p.D544A	SARDH_uc004ceo.2_Missense_Mutation_p.D544A|SARDH_uc011mdn.1_Missense_Mutation_p.D544A|SARDH_uc011mdo.1_Missense_Mutation_p.D376A|SARDH_uc004cen.2_5'UTR	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	544					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGTGTACTCGTCTGCCAGCAG	0.642												
SARDH	1757	broad.mit.edu	37	9	136594899	136594899	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:136594899G>A	uc004cep.3	-	6	1037	c.903C>T	c.(901-903)ATC>ATT	p.I301I	SARDH_uc004ceo.2_Silent_p.I301I|SARDH_uc011mdn.1_Silent_p.I301I|SARDH_uc011mdo.1_Silent_p.I133I	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	301					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAATCCCCTCGATGCGCTCGG	0.473												
MRPS2	51116	broad.mit.edu	37	9	138395799	138395799	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:138395799C>T	uc004cfv.3	+	4	785	c.711C>T	c.(709-711)CCC>CCT	p.P237P	MRPS2_uc004cfw.3_Silent_p.P147P|MRPS2_uc004cfx.3_Silent_p.P152P|MRPS2_uc010nat.2_Silent_p.P218P|uc004cfy.2_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	237					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ACCCTGTACCCGGCAATGACG	0.617												
CAMSAP1	157922	broad.mit.edu	37	9	138712718	138712718	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:138712718G>A	uc004cgr.3	-	11	3789	c.3789C>T	c.(3787-3789)GGC>GGT	p.G1263G	CAMSAP1_uc004cgq.3_Silent_p.G1153G|CAMSAP1_uc010nbg.2_Silent_p.G985G	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1263						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCTTCTGGTCGCCTTCGCTGA	0.592												
SEC16A	9919	broad.mit.edu	37	9	139358971	139358971	+	Silent	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:139358971A>G	uc004chx.2	-	9	4656	c.4347T>C	c.(4345-4347)CAT>CAC	p.H1449H	SEC16A_uc004chv.3_Silent_p.H839H|SEC16A_uc004chw.2_Silent_p.H1449H|SEC16A_uc010nbn.2_Silent_p.H1449H	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1271					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGGCACAGACATGAGGCACTG	0.463												
C9orf172	389813	broad.mit.edu	37	9	139740978	139740978	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:139740978C>T	uc011meh.1	+	1	2112	c.2112C>T	c.(2110-2112)GAC>GAT	p.D704D	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	704											0						AGGACTGGGACGCCCACAAGG	0.677												
PPP2R3B	28227	broad.mit.edu	37	X	306382	306382	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:306382G>A	uc004cpg.2	-	7	1106	c.905C>T	c.(904-906)GCG>GTG	p.A302V	PPP2R3B_uc011mha.1_Missense_Mutation_p.A141V	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	302					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTTGATGTCCGCCTCCTCCTC	0.637												
SFRS17A	8227	broad.mit.edu	37	X	1714399	1714399	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:1714399G>A	uc004cqa.2	+	3	1081	c.885G>A	c.(883-885)GCG>GCA	p.A295A	SFRS17A_uc010ncx.1_Silent_p.A295A|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'UTR	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	295					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAAGGAAGCGGAGGAGAGGC	0.572												
PIGA	5277	broad.mit.edu	37	X	15349630	15349630	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:15349630G>A	uc004cwr.2	-	2	523	c.423C>T	c.(421-423)CAC>CAT	p.H141H	PIGA_uc004cwq.2_Intron|PIGA_uc010nev.2_Intron|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Intron	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	141	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)					TTGTCTTGGCGTGGAAGAGAG	0.468												
PHKA2	5256	broad.mit.edu	37	X	18912415	18912415	+	Silent	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:18912415C>T	uc004cyv.3	-	32	3874	c.3444G>A	c.(3442-3444)ACG>ACA	p.T1148T	uc004cyt.2_RNA|PHKA2_uc004cyu.3_Silent_p.T454T|PHKA2_uc010nfe.1_Silent_p.T180T|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1148					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					CCGAGAGCAGCGTCAGCACCA	0.612												
MAGEB4	4115	broad.mit.edu	37	X	30260314	30260314	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:30260314A>G	uc004dcb.2	+	1	146	c.62A>G	c.(61-63)CAG>CGG	p.Q21R	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	21										ovary(1)	1						ACCCGTGGTCAGACCCAGGAT	0.567												
FTHL17	53940	broad.mit.edu	37	X	31090062	31090062	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:31090062G>A	uc004dcl.1	-	1	112	c.9C>T	c.(7-9)ACC>ACT	p.T3T		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	3					cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity				0						ACGGCTGGGCGGTGGCCATGG	0.632												
PHF16	9767	broad.mit.edu	37	X	46884163	46884163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:46884163C>T	uc004dgx.2	+	5	373	c.322C>T	c.(322-324)CGA>TGA	p.R108*	PHF16_uc004dgy.2_Nonsense_Mutation_p.R108*	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	108					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						TCTGTTTATCCGACCCCGGAA	0.448												
CFP	5199	broad.mit.edu	37	X	47486543	47486543	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:47486543G>T	uc004dig.3	-	5	889	c.763C>A	c.(763-765)CCA>ACA	p.P255T	CFP_uc004dih.2_Missense_Mutation_p.P255T|CFP_uc004dii.1_Missense_Mutation_p.P191T|CFP_uc010nhu.2_Missense_Mutation_p.P255T	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	255	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3						GGTGTACCTGGGCAGGGTGGC	0.617												
KCND1	3750	broad.mit.edu	37	X	48820066	48820066	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:48820066G>A	uc004dlx.1	-	6	3293	c.1720C>T	c.(1720-1722)CGC>TGC	p.R574C	KCND1_uc004dlw.1_Missense_Mutation_p.R197C	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	574	Cytoplasmic (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						AGGCTGGAGCGGCTGTGGACA	0.408												
PPP1R3F	89801	broad.mit.edu	37	X	49142650	49142650	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:49142650C>T	uc004dnh.1	+	4	1514	c.1498C>T	c.(1498-1500)CGG>TGG	p.R500W	PPP1R3F_uc011mnd.1_Missense_Mutation_p.R171W|PPP1R3F_uc004dni.2_Missense_Mutation_p.R154W|PPP1R3F_uc004dnj.1_Missense_Mutation_p.R154W	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	500	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					GAGCCGCCTACGGGCTGCTGT	0.677												
FOXO4	4303	broad.mit.edu	37	X	70321551	70321551	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:70321551A>G	uc004dys.1	+	2	1824	c.1471A>G	c.(1471-1473)ATG>GTG	p.M491V	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Missense_Mutation_p.M436V	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	491					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)					CAGTGACCTCATGGATGAGGG	0.493												
MED12	9968	broad.mit.edu	37	X	70341606	70341606	+	Silent	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:70341606T>C	uc004dyy.2	+	7	1240	c.1041T>C	c.(1039-1041)AGT>AGC	p.S347S	MED12_uc011mpq.1_Silent_p.S347S|MED12_uc004dyz.2_Silent_p.S347S|MED12_uc004dza.2_Silent_p.S194S	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	347					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					CTCCCTTTAGTGACCTGCTTA	0.557												
NAP1L2	4674	broad.mit.edu	37	X	72434173	72434173	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:72434173G>A	uc004ebi.2	-	1	512	c.156C>T	c.(154-156)GCC>GCT	p.A52A	NAP1L2_uc011mqj.1_Intron	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	52					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					CAAGCCCAGCGGCAGCTTCTT	0.572												
ATP7A	538	broad.mit.edu	37	X	77253979	77253979	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:77253979G>A	uc004ecx.3	+	5	1501	c.1341G>A	c.(1339-1341)ACG>ACA	p.T447T	ATP7A_uc004ecw.2_Silent_p.T447T	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	447	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						TACCAGACACGAATGAGCCGT	0.408												
POU3F4	5456	broad.mit.edu	37	X	82764008	82764008	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:82764008G>A	uc004eeg.2	+	1	740	c.676G>A	c.(676-678)GTG>ATG	p.V226M		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	226	POU-specific.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTATGGTAACGTGTTCTCGCA	0.527												
TGIF2LX	90316	broad.mit.edu	37	X	89177144	89177144	+	Silent	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:89177144G>A	uc004efe.2	+	2	109	c.60G>A	c.(58-60)CCG>CCA	p.P20P		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						AAGACAGCCCGGCGAAGACCC	0.532												
DRP2	1821	broad.mit.edu	37	X	100496692	100496692	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:100496692C>T	uc004egz.2	+	7	964	c.595C>T	c.(595-597)CGC>TGC	p.R199C	DRP2_uc011mrh.1_Missense_Mutation_p.R121C	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	199					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						GAATCTCAGCCGCTTTGTATG	0.577												
CHRDL1	91851	broad.mit.edu	37	X	109937472	109937472	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:109937472G>A	uc004eou.3	-	8	1046	c.697C>T	c.(697-699)CGG>TGG	p.R233W	CHRDL1_uc004eov.2_Missense_Mutation_p.R227W|CHRDL1_uc004eow.2_Missense_Mutation_p.R232W|CHRDL1_uc010nps.2_Missense_Mutation_p.R232W|CHRDL1_uc004eot.2_Missense_Mutation_p.R153W|CHRDL1_uc011mss.1_Missense_Mutation_p.R147W	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	226					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						AGAGCTCCCCGGTGACTTCTG	0.493												
CD40LG	959	broad.mit.edu	37	X	135741286	135741286	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:135741286A>C	uc004faa.2	+	5	570	c.498A>C	c.(496-498)CAA>CAC	p.Q166H	CD40LG_uc010nsd.2_Missense_Mutation_p.Q145H	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	166	Extracellular (Potential).				anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TTAAAAGACAAGGACTCTATT	0.453									Immune_Deficiency_with_Hyper-IgM			
GPR101	83550	broad.mit.edu	37	X	136113077	136113077	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:136113077T>C	uc011mwh.1	-	1	757	c.757A>G	c.(757-759)AAG>GAG	p.K253E		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	253	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					AACTCCTCCTTCTTCTCTGCT	0.557												
AFF2	2334	broad.mit.edu	37	X	148037756	148037756	+	Silent	SNP	C	C	A	rs143927826	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:148037756C>A	uc004fcp.2	+	11	2660	c.2181C>A	c.(2179-2181)ACC>ACA	p.T727T	AFF2_uc004fcq.2_Silent_p.T717T|AFF2_uc004fcr.2_Silent_p.T688T|AFF2_uc011mxb.1_Silent_p.T692T|AFF2_uc004fcs.2_Silent_p.T694T|AFF2_uc011mxc.1_Silent_p.T368T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	727					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGAGACCCTGCAAATCA	0.468												
PASD1	139135	broad.mit.edu	37	X	150817164	150817164	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:150817164C>T	uc004fev.3	+	9	1039	c.707C>T	c.(706-708)GCT>GTT	p.A236V		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					gctgctgctgctATCTCAGAC	0.343												
MAGEA12	4111	broad.mit.edu	37	X	151900304	151900304	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:151900304A>G	uc010ntp.2	-	3	851	c.497T>C	c.(496-498)GTG>GCG	p.V166A	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.V166A|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	166	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CACTTCCACCACCTCGATGCC	0.547												
ATP2B3	492	broad.mit.edu	37	X	152801812	152801812	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:152801812C>T	uc004fht.1	+	1	233	c.107C>T	c.(106-108)ACC>ATC	p.T36I	ATP2B3_uc004fhs.1_Missense_Mutation_p.T36I	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	36	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCTGCGCACCCTCATGGAG	0.662												
OPN1LW	5956	broad.mit.edu	37	X	153421852	153421852	+	Silent	SNP	G	G	A	rs2315125		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:153421852G>A	uc004fjz.3	+	5	861	c.828G>A	c.(826-828)GCG>GCA	p.A276A		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	276	Helical; Name=6; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGATCTTTGCGTACTGCGTCT	0.567												
PLXNA3	55558	broad.mit.edu	37	X	153694127	153694127	+	Silent	SNP	G	G	A	rs145475407	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:153694127G>A	uc004flm.2	+	13	2642	c.2469G>A	c.(2467-2469)CCG>CCA	p.P823P		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	823	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)					GCCCGGCCCCGAAGACCAACT	0.677												
G6PD	2539	broad.mit.edu	37	X	153762274	153762274	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:153762274T>C	uc004fly.1	-	7	859	c.746A>G	c.(745-747)TAT>TGT	p.Y249C	G6PD_uc004flx.1_Missense_Mutation_p.Y279C	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	249					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			ovary(4)	4	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)					TTCATCGAAATAGCCCCCGCG	0.587												
THBS1	7057	broad.mit.edu	37	15	39875816	39875817	+	Splice_Site	INS	-	-	G	rs112381547		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:39875816_39875817insG	uc001zkh.2	+	4	807	c.628_splice	c.e4-1	p.G210_splice		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor						activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTCTGCCCACAGGGGGTGCTGC	0.510											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TCEA3	6920	broad.mit.edu	37	1	23710913	23710914	+	Splice_Site	DEL	GA	GA	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:23710912_23710913TGA>T	uc021oig.1	-	10	1102	c.967_splice	c.e10-1	p.V323_splice	TCEA3_uc009vqm.2_Intron	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	323					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TGTCTGCACCTGAGAGAGAGAA	0.495												
PREPL	9581	broad.mit.edu	37	2	44550553	44550553	+	Splice_Site	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333												
ANAPC1	64682	broad.mit.edu	37	2	112614258	112614259	+	Splice_Site	INS	-	-	T	rs4067742		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:112614257_112614258C>CT	uc002thi.3	-	13	1697	c.1450_splice	c.e13-1	p.K484_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	484					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361												
IFIH1	64135	broad.mit.edu	37	2	163134716	163134717	+	Splice_Site	INS	-	-	T	rs150760072		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:163134715_163134716C>CT	uc002uce.3	-	9	1987	c.1765_splice	c.e9+1	p.A589_splice		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	589					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			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTAAATTACCTTTTTTTTCCA	0.327												
KIAA1324L	222223	broad.mit.edu	37	7	86542523	86542523	+	Splice_Site	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCGTCTATTCTAAAAAAAAGA	0.413												
SFTPC	6440	broad.mit.edu	37	8	22021060	22021061	+	Splice_Site	INS	-	-	GT	rs149538549	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:22021059_22021060G>GGT	uc003xaw.4	+	7	1285	c.582_splice	c.e7+1	p.Q194_splice	SFTPC_uc003xax.4_Splice_Site_p.Q145_splice|SFTPC_uc003xay.4_Splice_Site_p.Q145_splice|SFTPC_uc003xaz.3_Splice_Site_p.Q145_splice|SFTPC_uc011kza.1_Intron|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	145	BRICHOS.				respiratory gaseous exchange	extracellular space		p.M146fs*41(1)		autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACAACTTCCAGGTGTGTGTGTG	0.545												
UBR5	51366	broad.mit.edu	37	8	103309837	103309837	+	Splice_Site	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:103309836_103309836TA>T	uc003ykr.2	-	27	3880	c.3425_splice	c.e27-1	p.A1142_splice	UBR5_uc003yks.2_Splice_Site_p.A1142_splice	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1142					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATATTTCAGCTAAAAAAGTAA	0.363												
SEC24C	9632	broad.mit.edu	37	10	75525560	75525560	+	Splice_Site	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:75525559_75525559TC>T	uc001juw.3	+	11	1547	c.1367_splice	c.e11-1	p.V456_splice	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Splice_Site_p.V314_splice|SEC24C_uc001jux.3_Splice_Site_p.V456_splice|SEC24C_uc010qko.2_Splice_Site_p.V337_splice|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.	456					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)					TTCCCACAGTTCCCCCCCAGT	0.512												
ATL3	25923	broad.mit.edu	37	11	63420050	63420050	+	Splice_Site	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373												
LRIG3	121227	broad.mit.edu	37	12	59281569	59281588	+	Splice_Site	DEL	ACAAAGTCTTTAAACTGGAA	ACAAAGTCTTTAAACTGGAA	-	rs148886133		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:59281568_59281587TACAAAGTCTTTAAACTGGAA>T	uc001sqr.3	-	8	1337	c.1091_splice	c.e8+1	p.L364_splice	LRIG3_uc009zqh.3_Splice_Site_p.L304_splice|LRIG3_uc010ssh.2_Splice_Site	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	364						integral to membrane		p.K362N(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACGTGTAACTTACAAAGTCTTTAAACTGGAAAGCCCCCGG	0.418			T	ROS1	NSCLC							
ATXN2	6311	broad.mit.edu	37	12	111924631	111924631	+	Splice_Site	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:111924630_111924630TA>T	uc001tsj.3	-	16	2883	c.2721_splice	c.e16-1	p.E907_splice	ATXN2_uc001tsh.3_Splice_Site_p.E642_splice|ATXN2_uc001tsi.3_Splice_Site_p.E618_splice|ATXN2_uc001tsk.3_Splice_Site	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	907					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTAACTTGCCTAAAAAAAATA	0.333												
THBS1	7057	broad.mit.edu	37	15	39875817	39875818	+	Splice_Site	INS	-	-	G	rs112381547		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:39875816_39875817A>AG	uc001zkh.3	+	4	807	c.628_splice	c.e4-1	p.G210_splice		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	210	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTCTGCCCACAGGGGGTGCTGC	0.510											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C16orf7	9605	broad.mit.edu	37	16	89778933	89778934	+	Splice_Site	INS	-	-	G	rs143123169	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:89778932_89778933T>TG	uc002fom.1	-	6	669	c.544_splice	c.e6-1	p.T182_splice	C16orf7_uc002fol.1_Splice_Site_p.T112_splice|LOC100128881_uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	182					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAGAGGGTCTGGGGGGGGAGG	0.668												
CACNB1	782	broad.mit.edu	37	17	37341120	37341121	+	Splice_Site	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:37341119_37341120T>TG	uc002hrm.2	-	8	857	c.649_splice	c.e8-1	p.T217_splice	CACNB1_uc002hrl.1_Splice_Site|CACNB1_uc002hrn.3_Splice_Site_p.T217_splice|CACNB1_uc002hro.3_Splice_Site_p.T262_splice|CACNB1_uc002hrp.2_Intron	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	217				T -> S (in Ref. 3; AAA36167).	axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATGCTCTGTCTGGGGGGGGAAG	0.629												
PSTPIP2	9050	broad.mit.edu	37	18	43595906	43595906	+	Splice_Site	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:43595905_43595905TA>T	uc002lbp.4	-	4	309	c.213_splice	c.e4-1	p.N71_splice	PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	71	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTCAGGGTGCTAAAAAAAACA	0.383												
BRSK1	84446	broad.mit.edu	37	19	55815036	55815037	+	Splice_Site	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:55815035_55815036A>AC	uc002qkf.3	+	14	1302	c.1175_splice	c.e14-1	p.D392_splice	BRSK1_uc002qkg.3_Splice_Site_p.D376_splice|BRSK1_uc002qkh.3_Splice_Site_p.D71_splice|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	376					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R379fs*9(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGTCCCTCAGACCCCCCCCGGA	0.579												
DFFB	1677	broad.mit.edu	37	1	3800152	3800152	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:3800152delT	uc001alc.2	+	7	1187	c.864delT	c.(862-864)TATfs	p.Y288fs	DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Frame_Shift_Del_p.Y312fs|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Frame_Shift_Del_p.Y239fs|DFFB_uc001ald.2_Frame_Shift_Del_p.Y224fs	NM_004402	NP_004393	O76075	DFFB_HUMAN	DNA fragmentation factor, 40 kD, beta	288					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ACTGGGAGTATTTTTATGGCC	0.423												
SPATA21	374955	broad.mit.edu	37	1	16725948	16725950	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:16725948_16725950delTCT	uc001ayn.2	-	12	1724_1726	c.1241_1243delAGA	c.(1240-1245)AAGATG>ATG	p.K414del	SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_In_Frame_Del_p.K391del	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	414							calcium ion binding			ovary(2)|breast(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CTACGGACCATCTTCTTGTCCAG	0.596												
ARID1A	8289	broad.mit.edu	37	1	27059207	27059207	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:27059207delC	uc001bmv.1	+	4	2217	c.1844delC	c.(1843-1845)GCCfs	p.A615fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.A615fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.A615fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.A232fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	615					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	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		GCATCCTCAGCCCCCTCAATG	0.478			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
ARID1A	8289	broad.mit.edu	37	1	27097622	27097622	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:27097622delA	uc001bmv.1	+	12	3584	c.3211delA	c.(3211-3213)AAAfs	p.K1071fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.K1071fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.K1071fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.K688fs|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1071	ARID.				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	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.K1072fs*21(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		CAACAAGAACAAAAAATGGCG	0.483			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
MFSD2A	84879	broad.mit.edu	37	1	40434360	40434361	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:40434360_40434361delTG	uc001cev.2	+	13	1692_1693	c.1511_1512delTG	c.(1510-1512)ATGfs	p.M504fs	MFSD2A_uc010ojb.1_Frame_Shift_Del_p.M452fs|MFSD2A_uc001ceu.2_Frame_Shift_Del_p.M491fs|MFSD2A_uc010ojc.1_Frame_Shift_Del_p.M335fs|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_Frame_Shift_Del_p.M155fs	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	504					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						CTCTTCAAAATGTACCCCATTG	0.584												
SPAG17	200162	broad.mit.edu	37	1	118567980	118567980	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:118567980delG	uc001ehk.2	-	27	3858	c.3790delC	c.(3790-3792)CAGfs	p.Q1264fs		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1264						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCACCCTCTGGGGGTAGCTC	0.458												
CACNA1E	777	broad.mit.edu	37	1	181708297	181708298	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:181708297_181708298insT	uc001gow.2	+	25	3792_3793	c.3627_3628insT	c.(3625-3630)GGCTTGfs	p.G1209fs	CACNA1E_uc009wxs.2_Frame_Shift_Ins_p.G1097fs|CACNA1E_uc001gox.1_Frame_Shift_Ins_p.G435fs|CACNA1E_uc009wxt.2_Frame_Shift_Ins_p.G435fs	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1209_1210	III.|Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TAGACCAAGGCTTGATCCTGCA	0.535												
PRG4	10216	broad.mit.edu	37	1	186280259	186280259	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:186280259delT	uc001gru.3	+	9	3644	c.3593delT	c.(3592-3594)GTTfs	p.V1198fs	PRG4_uc001grt.3_Frame_Shift_Del_p.V1157fs|PRG4_uc009wyl.2_Frame_Shift_Del_p.V1105fs|PRG4_uc009wym.2_Frame_Shift_Del_p.V1064fs|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1198	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						ATTGATACTGTTTTTACTAGG	0.343												
NEK7	140609	broad.mit.edu	37	1	198222297	198222298	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:198222297_198222298insA	uc001gun.3	+	3	512_513	c.185_186insA	c.(184-186)TTAfs	p.L62fs		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	62	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4						CCAGTAGCTTTAAAAAAAGTGC	0.317												
C1orf124	83932	broad.mit.edu	37	1	231488893	231488894	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:231488893_231488894insT	uc001hur.2	+	5	1704_1705	c.1256_1257insT	c.(1255-1257)AATfs	p.N419fs	C1orf124_uc001hus.2_3'UTR|C1orf124_uc001hut.2_3'UTR	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	419					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GTTTTTGACAATTTTTTTATCA	0.396												
FMN2	56776	broad.mit.edu	37	1	240256986	240256986	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:240256986delC	uc010pyd.1	+	1	1802	c.1577delC	c.(1576-1578)GCCfs	p.A526fs	FMN2_uc010pye.1_Frame_Shift_Del_p.A526fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	526					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCGTCTGGGGCCCCCGCGGCT	0.726												
C10orf71	118461	broad.mit.edu	37	10	50532282	50532282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:50532282delC	uc010qgp.1	+	3	2031	c.1692delC	c.(1690-1692)GACfs	p.D564fs		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	564											0						CCGCTGATGACCCCACTGCAT	0.532												
CDHR1	92211	broad.mit.edu	37	10	85973046	85973046	+	Frame_Shift_Del	DEL	G	G	-	rs150840551		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:85973046delG	uc001kcv.2	+	16	1982	c.1982delG	c.(1981-1983)CGGfs	p.R661fs	CDHR1_uc001kcw.2_Frame_Shift_Del_p.R661fs|CDHR1_uc009xst.2_Frame_Shift_Del_p.R365fs|CDHR1_uc001kcx.2_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	661	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GCCAAGGACCGGGGCTCCCCA	0.562												
KIF20B	9585	broad.mit.edu	37	10	91478521	91478521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:91478521delT	uc001kgs.1	+	12	1398	c.1326delT	c.(1324-1326)AGTfs	p.S442fs	KIF20B_uc001kgr.1_Frame_Shift_Del_p.S442fs	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	442					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						ATTTTCAAAGTTTTTTTAATG	0.323												
CYP26A1	1592	broad.mit.edu	37	10	94833853	94833854	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:94833853_94833854insG	uc001kil.2	+	1	207_208	c.162_163insG	c.(160-165)TTTGGGfs	p.F54fs	CYP26A1_uc001kik.1_Intron|CYP26A1_uc001kim.1_5'Flank	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	54_55					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				TCCCCTTCTTTGGGGAAACCTT	0.663												
PIK3AP1	118788	broad.mit.edu	37	10	98376420	98376421	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:98376420_98376421delTC	uc001kmq.2	-	13	2117_2118	c.1989_1990delGA	c.(1987-1992)GAGAAGfs	p.E663fs	PIK3AP1_uc001kmo.2_Frame_Shift_Del_p.E262fs|PIK3AP1_uc001kmp.2_Frame_Shift_Del_p.E485fs	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	663_664	Potential.					cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GATTTTTGCTTCTCTCTCTGTC	0.431												
PSD	5662	broad.mit.edu	37	10	104174959	104174959	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:104174959delG	uc001kvg.1	-	4	1312	c.785delC	c.(784-786)CCAfs	p.P262fs	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Frame_Shift_Del_p.P262fs	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	262					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)		AGGTGGAGATGGGGGGGCCTG	0.627												
C10orf88	80007	broad.mit.edu	37	10	124711509	124711510	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:124711509_124711510insT	uc001lgw.2	-	3	626_627	c.401_402insA	c.(400-402)AATfs	p.N134fs	C10orf88_uc001lgx.2_Frame_Shift_Ins_p.N36fs	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	134											0		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)		CCAATTTTAGATTTTTTTTATA	0.238												
C10orf90	118611	broad.mit.edu	37	10	128193320	128193320	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:128193320delG	uc001ljq.2	-	3	570	c.449delC	c.(448-450)CCAfs	p.P150fs	C10orf90_uc001ljp.2_Frame_Shift_Del_p.P103fs|C10orf90_uc010qum.1_Frame_Shift_Del_p.P247fs|C10orf90_uc009yao.2_Frame_Shift_Del_p.P247fs|C10orf90_uc001ljs.1_Frame_Shift_Del_p.P103fs	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	150										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GGCGCGGGCTGGGGGGCCCAC	0.697											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DOCK1	1793	broad.mit.edu	37	10	129245705	129245705	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:129245705delC	uc001ljt.2	+	51	5462	c.5398delC	c.(5398-5400)CCCfs	p.P1800fs	DOCK1_uc010qun.1_Frame_Shift_Del_p.P1821fs|DOCK1_uc009yaq.2_Frame_Shift_Del_p.T799fs|DOCK1_uc001ljw.1_5'Flank	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1800	SH3-binding; interaction with CRK (Potential).|Interaction with NCK2 second and third SH3 domain (minor).				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CGATGTCCCACCCCCTCTGCC	0.592												
TPP1	1200	broad.mit.edu	37	11	6636199	6636199	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6636199delC	uc001mel.1	-	12	1510	c.1449delG	c.(1447-1449)GGGfs	p.G483fs	TAF10_uc001mej.1_5'Flank|TPP1_uc001mek.1_Frame_Shift_Del_p.G240fs	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	483					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AGGATAGGATCCCCCCAAACA	0.517												
DCHS1	8642	broad.mit.edu	37	11	6654124	6654125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6654124_6654125insG	uc001mem.1	-	6	3028_3029	c.2618_2619insC	c.(2617-2619)CCAfs	p.P873fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	873	Cadherin 8.|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)		CAGCGAAAGCTGGGGGCACTCC	0.579												
CKAP5	9793	broad.mit.edu	37	11	46799029	46799029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:46799029delT	uc001ndi.1	-	23	2932	c.2822delA	c.(2821-2823)AATfs	p.N941fs	CKAP5_uc009ylg.1_Frame_Shift_Del_p.N827fs|CKAP5_uc001ndj.1_Frame_Shift_Del_p.N941fs	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	941	HEAT 6.				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						GATGCCTAAATTTTTTACATG	0.433												
OR5T3	390154	broad.mit.edu	37	11	56019846	56019847	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:56019846_56019847insT	uc010rjd.1	+	1	171_172	c.171_172insT	c.(169-174)CTATTTfs	p.L57fs		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	57_58	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					AAGTCTTCCTATTTTTACTATT	0.391												
SMTNL1	219537	broad.mit.edu	37	11	57313808	57313808	+	Frame_Shift_Del	DEL	A	A	-	rs80069448		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:57313808delA	uc009ymh.1	+	6	1230	c.1230delA	c.(1228-1230)ACAfs	p.T410fs		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	392										ovary(1)	1						GAGCCATGACAAAAAAATACG	0.622												
B3GAT3	26229	broad.mit.edu	37	11	62388038	62388038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:62388038delG	uc001ntw.2	-	2	217	c.188delC	c.(187-189)CCTfs	p.P63fs	B3GAT3_uc009ynz.2_Frame_Shift_Del_p.P56fs|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Frame_Shift_Del_p.P63fs	NM_012200	NP_036332	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	63	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding				0						GGCAGGGGCAGGGGGTGGCCG	0.632												
RIN1	9610	broad.mit.edu	37	11	66103453	66103453	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:66103453delG	uc001ohn.1	-	2	390	c.263delC	c.(262-264)CCGfs	p.P88fs	RIN1_uc010roy.1_5'Flank|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Intron|RIN1_uc010rpa.1_Intron	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	88	SH2.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						ACTCACCCCCGGGGGCTCGGT	0.692												
NADSYN1	55191	broad.mit.edu	37	11	71193957	71193957	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:71193957delC	uc001oqn.2	+	14	1339	c.1213delC	c.(1213-1215)CCCfs	p.P405fs	NADSYN1_uc001oqo.2_Frame_Shift_Del_p.P145fs|NADSYN1_uc001oqp.2_Frame_Shift_Del_p.P34fs	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	405	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCCCAGGATCCCCGAGACCT	0.587												
FAT3	120114	broad.mit.edu	37	11	92600371	92600371	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:92600371delG	uc001pdj.3	+	21	12140	c.12123delG	c.(12121-12123)TCGfs	p.S4041fs	FAT3_uc001pdi.3_Frame_Shift_Del_p.S481fs	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4041	EGF-like 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCTGCCATCGGGGGGTGAGT	0.667										TCGA Ovarian(4;0.039)		
USP28	57646	broad.mit.edu	37	11	113673924	113673924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:113673924delC	uc001poh.2	-	23	2851	c.2818delG	c.(2818-2820)GTCfs	p.V940fs	USP28_uc001pog.2_Frame_Shift_Del_p.V616fs|USP28_uc010rwy.1_Frame_Shift_Del_p.V783fs|USP28_uc001poi.2_Frame_Shift_Del_p.V263fs	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	940					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATTCTTTGACCCCCCGGCGG	0.458												
EMG1	10436	broad.mit.edu	37	12	7084957	7084958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:7084957_7084958insG	uc001qsh.3	+	8	864_865	c.721_722insG	c.(721-723)TGGfs	p.W241fs	EMG1_uc009zfo.2_RNA|EMG1_uc010sfv.1_Intron	NM_006331	NP_006322	Q92979	NEP1_HUMAN	ribosome biogenesis protein NEP1	241					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding				0						TGAGGAAGTATGGGGGGTCATT	0.475												
C12orf40	283461	broad.mit.edu	37	12	40020151	40020151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:40020151delG	uc001rmc.2	+	1	180	c.13delG	c.(13-15)GGGfs	p.G5fs	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	5										ovary(6)	6						GAATTGGGTCGGGGGGTCCCG	0.542												
COL2A1	1280	broad.mit.edu	37	12	48391482	48391483	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:48391482_48391483insG	uc001rqu.2	-	7	618_619	c.437_438insC	c.(436-438)CCTfs	p.P146fs	COL2A1_uc001rqv.2_Frame_Shift_Ins_p.P77fs	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	146					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)	CACGAGGTCCAGGGGCACCCTT	0.416												
WNT1	7471	broad.mit.edu	37	12	49374348	49374348	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:49374348delG	uc001rsu.2	+	3	698	c.500delG	c.(499-501)TGGfs	p.W167fs		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	167					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)		gACTGGCACTGGGGGGGCTGC	0.552												
AVPR1A	552	broad.mit.edu	37	12	63541343	63541343	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:63541343delA	uc001sro.1	-	2	3027	c.1053delT	c.(1051-1053)TTTfs	p.F351fs		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	351	Helical; Name=7; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GATGGCCACTAAAAAACATGT	0.398												
PLXNC1	10154	broad.mit.edu	37	12	94653399	94653401	+	In_Frame_Del	DEL	ACG	ACG	-	rs114497004	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:94653399_94653401delACG	uc001tdc.2	+	19	3389_3391	c.3140_3142delACG	c.(3139-3144)AACGAC>AAC	p.D1048del	PLXNC1_uc010sut.1_In_Frame_Del_p.D95del|PLXNC1_uc009zsv.2_5'Flank	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1048	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						AGAGACGCCAACGACAAGAATGA	0.335												
TRPV4	59341	broad.mit.edu	37	12	110221457	110221458	+	Frame_Shift_Ins	INS	-	-	G	rs149267166		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:110221457_110221458insG	uc001tpj.1	-	15	2679_2680	c.2584_2585insC	c.(2584-2586)CGCfs	p.R862fs	TRPV4_uc001tpg.1_Frame_Shift_Ins_p.R828fs|TRPV4_uc001tph.1_Frame_Shift_Ins_p.R815fs|TRPV4_uc001tpi.1_Frame_Shift_Ins_p.R755fs|TRPV4_uc001tpk.1_Frame_Shift_Ins_p.R862fs|TRPV4_uc001tpl.1_Frame_Shift_Ins_p.R802fs	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	862	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CCTCCACTTGCGGGGGTAACCC	0.624												
NAA25	80018	broad.mit.edu	37	12	112485489	112485490	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:112485489_112485490insA	uc001ttm.2	-	17	2005_2006	c.1985_1986insT	c.(1984-1986)TTCfs	p.F662fs	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Frame_Shift_Ins_p.F634fs|NAA25_uc009zwa.1_Frame_Shift_Ins_p.F662fs	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	662						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						GATCCCAGCTGAAAAAAACATT	0.327												
AACS	65985	broad.mit.edu	37	12	125618593	125618593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:125618593delG	uc001uhc.2	+	15	1800	c.1594delG	c.(1594-1596)GGGfs	p.G532fs	AACS_uc001uhd.2_Frame_Shift_Del_p.G532fs|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Frame_Shift_Del_p.G130fs	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	532					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCCCAAGACCGGGGGCATCGT	0.617												
TSC22D1	8848	broad.mit.edu	37	13	45150004	45150005	+	Frame_Shift_Ins	INS	-	-	G	rs145475008		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:45150004_45150005insG	uc001uzn.3	-	1	697_698	c.206_207insC	c.(205-207)CCTfs	p.P69fs	TSC22D1_uc001uzo.1_Frame_Shift_Ins_p.P69fs	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	69	Pro-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AAGATGCTGCAGGGGGCGGCGG	0.634												
KLHL1	57626	broad.mit.edu	37	13	70293600	70293600	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:70293600delC	uc001vip.2	-	9	2710	c.1916delG	c.(1915-1917)GGTfs	p.G639fs	KLHL1_uc010thm.1_Frame_Shift_Del_p.G578fs	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	639	Kelch 4.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CACTCCGACACCCCCTCTCCT	0.463												
DCT	1638	broad.mit.edu	37	13	95121040	95121040	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:95121040delA	uc001vlv.3	-	2	982	c.555delT	c.(553-555)TTTfs	p.F185fs	DCT_uc010afh.2_Frame_Shift_Del_p.F185fs	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	185	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGAGCCACACAAAAAAATCAT	0.448												
F10	2159	broad.mit.edu	37	13	113801712	113801712	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:113801712delA	uc001vsx.2	+	7	824	c.767delA	c.(766-768)GAAfs	p.E256fs	F10_uc010agq.1_RNA|F10_uc001vsy.2_Frame_Shift_Del_p.E256fs|F10_uc001vsz.2_Frame_Shift_Del_p.E256fs	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	256	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCAATGAGGAAAACGAGGGT	0.552												
SLC22A17	51310	broad.mit.edu	37	14	23821359	23821359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:23821359delG	uc001wjl.2	-	1	121	c.65delC	c.(64-66)CCTfs	p.P22fs	SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Frame_Shift_Del_p.P22fs|SLC22A17_uc010akl.1_Frame_Shift_Del_p.P22fs	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	22					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGAGGCATTAGGGGGGAAGGC	0.701												
THTPA	79178	broad.mit.edu	37	14	24026212	24026213	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:24026212_24026213delCA	uc001wkh.3	+	2	616_617	c.246_247delCA	c.(244-249)CTCACAfs	p.L82fs	THTPA_uc001wkb.3_Intron|THTPA_uc001wkg.3_Frame_Shift_Del_p.L82fs|THTPA_uc010akr.2_Intron|THTPA_uc001wki.3_Frame_Shift_Del_p.L82fs	NM_001126339	NP_001119811	Q9BU02	THTPA_HUMAN	thiamine triphosphatase	82_83					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity				0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	ATAAGGAACTCACAGCGGAACC	0.604												
LGALS3	3958	broad.mit.edu	37	14	55605002	55605003	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:55605002_55605003insG	uc001xbr.2	+	3	409_410	c.258_259insG	c.(256-261)CCTGGGfs	p.P86fs		NM_002306	NP_002297	P17931	LEG3_HUMAN	galectin 3	86_87	8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.|6; approximate.				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding				0						CCAGCGGCCCTGGGGCCTACCC	0.658												
SYNE2	23224	broad.mit.edu	37	14	64450478	64450478	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:64450478delA	uc001xgm.2	+	18	2255	c.2025delA	c.(2023-2025)ATAfs	p.I675fs	SYNE2_uc001xgl.2_Frame_Shift_Del_p.I675fs	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	675	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)		CACTGATGATAAAAAAACAGG	0.299												
ZDHHC22	283576	broad.mit.edu	37	14	77600151	77600151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:77600151delC	uc010asp.2	-	3	870	c.667delG	c.(667-669)GTGfs	p.V223fs		NM_174976	NP_777636	Q8N966	ZDH22_HUMAN	zinc finger, DHHC domain containing 22	223						integral to membrane	acyltransferase activity|zinc ion binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		CTCACTGCCACCCCCTTCCGC	0.652												
AK7	122481	broad.mit.edu	37	14	96875210	96875211	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:96875210_96875211insA	uc001yfn.2	+	4	474_475	c.430_431insA	c.(430-432)GAAfs	p.E144fs		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	144	Potential.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAGCCACTTTGAAAAGCGAAAG	0.460												
C14orf68	283600	broad.mit.edu	37	14	100795725	100795725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:100795725delG	uc001yhc.2	+	6	743	c.670delG	c.(670-672)GGGfs	p.G224fs	C14orf68_uc001yhd.2_Frame_Shift_Del_p.G78fs	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	224	Helical; Name=5; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				GCTGGTGGCCGGGGGCTGTGC	0.697												
DYNC1H1	1778	broad.mit.edu	37	14	102476416	102476416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:102476416delT	uc001yks.2	+	30	6378	c.6214delT	c.(6214-6216)TTTfs	p.F2072fs		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2072	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AATCGTCCCGTTTTTTAAGTA	0.413												
KIF26A	26153	broad.mit.edu	37	14	104642584	104642584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:104642584delG	uc001yos.3	+	12	3459	c.3459delG	c.(3457-3459)CTGfs	p.L1153fs		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1153					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ATGGTTCCCTGGGGGATGGAA	0.711												
TRPM1	4308	broad.mit.edu	37	15	31294935	31294936	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:31294935_31294936insT	uc001zfm.2	-	27	4029_4030	c.3901_3902insA	c.(3901-3903)ACCfs	p.T1301fs	TRPM1_uc010azy.2_Frame_Shift_Ins_p.T1208fs|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1301	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAAGGAACAGGTTTTTTTCCTG	0.446												
THBS1	7057	broad.mit.edu	37	15	39875816	39875817	+	Splice_Site	INS	-	-	G	rs112381547		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:39875816_39875817insG	uc001zkh.2	+	4	807	c.628_splice	c.e4-1	p.G210_splice		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor						activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTCTGCCCACAGGGGGTGCTGC	0.510											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
INO80	54617	broad.mit.edu	37	15	41377755	41377755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:41377755delT	uc001zni.2	-	7	898	c.685delA	c.(685-687)AGAfs	p.R229fs	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	229	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.|Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						TCTCTTCGTCTTTTTTTCTTC	0.443												
B2M	567	broad.mit.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:45003781_45003782delCT	uc001zuc.2	+	1	97_98	c.37_38delCT	c.(37-39)CTCfs	p.L13fs	B2M_uc010uek.1_Frame_Shift_Del_p.L13fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L13fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	13					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCT	0.614												
AP4E1	23431	broad.mit.edu	37	15	51221320	51221321	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:51221320_51221321insG	uc001zyx.1	+	6	687_688	c.657_658insG	c.(655-660)GTTGGGfs	p.V219fs	AP4E1_uc010ufi.1_Frame_Shift_Ins_p.V219fs|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	219_220					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACAGAGATGTTGGGGTCATGGC	0.342												
VPS13C	54832	broad.mit.edu	37	15	62256915	62256915	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:62256915delT	uc002agz.2	-	31	3271	c.3197delA	c.(3196-3198)AATfs	p.N1066fs	VPS13C_uc002aha.2_Frame_Shift_Del_p.N1023fs|VPS13C_uc002ahb.1_Frame_Shift_Del_p.N1066fs|VPS13C_uc002ahc.1_Frame_Shift_Del_p.N1023fs	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1066					protein localization					ovary(2)	2						CAGAGTTGAATTTTTTTGTTG	0.323												
PIAS1	8554	broad.mit.edu	37	15	68468059	68468059	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:68468059delA	uc002aqz.2	+	10	1350	c.1254delA	c.(1252-1254)TCAfs	p.S418fs	PIAS1_uc002ara.2_Frame_Shift_Del_p.S26fs	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	418					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2						CGATGAGATCAAAAAAGGAAG	0.408												
AXIN1	8312	broad.mit.edu	37	16	347983	347983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:347983delC	uc002cgp.1	-	6	1700	c.1523delG	c.(1522-1524)GGTfs	p.G508fs	AXIN1_uc002cgq.1_Frame_Shift_Del_p.G508fs	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	508	Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGAGGCGGCACCCCCCAGTGC	0.706												
AXIN1	8312	broad.mit.edu	37	16	396234	396234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:396234delG	uc002cgp.1	-	2	969	c.792delC	c.(790-792)CCCfs	p.P264fs	AXIN1_uc002cgq.1_Frame_Shift_Del_p.P264fs	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	264	Interaction with TP53 (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGAGTCTTCCGGGGGGAGCAG	0.582												
NAGPA	51172	broad.mit.edu	37	16	5083324	5083324	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:5083324delC	uc002cyg.2	-	2	513	c.492delG	c.(490-492)GGGfs	p.G164fs	ALG1_uc002cyj.2_5'Flank|NAGPA_uc002cyf.2_Frame_Shift_Del_p.G22fs|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Frame_Shift_Del_p.G22fs|NAGPA_uc010uxx.1_Intron	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	164	Lumenal (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	CGTTCTGCAGCCCCCCGGAGC	0.697												
ALG1	56052	broad.mit.edu	37	16	5125391	5125391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:5125391delC	uc002cym.2	+	4	434	c.393delC	c.(391-393)AACfs	p.N131fs	ALG1_uc002cyj.2_Frame_Shift_Del_p.N20fs|ALG1_uc002cyn.2_Frame_Shift_Del_p.N131fs|ALG1_uc010bue.2_Frame_Shift_Del_p.N20fs|ALG1_uc010uxy.1_Frame_Shift_Del_p.N20fs	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	131	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				TTTCCTAGAACCCCCCAGGTC	0.493												
USP7	7874	broad.mit.edu	37	16	9010901	9010901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:9010901delT	uc002czl.2	-	7	1032	c.833delA	c.(832-834)AAGfs	p.K278fs	USP7_uc010uyk.1_Frame_Shift_Del_p.K179fs|USP7_uc010uyj.1_Frame_Shift_Del_p.K179fs|USP7_uc002czk.2_Frame_Shift_Del_p.K262fs|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	278					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						CTTTGTTAACTTTTTTGTTCC	0.358												
MYH11	4629	broad.mit.edu	37	16	15820795	15820800	+	In_Frame_Del	DEL	CTTCTT	CTTCTT	-	rs149241435	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:15820795_15820800delCTTCTT	uc002ddy.2	-	28	3870_3875	c.3763_3768delAAGAAG	c.(3763-3768)AAGAAGdel	p.KK1255del	MYH11_uc002ddv.2_In_Frame_Del_p.KK1262del|MYH11_uc002ddw.2_In_Frame_Del_p.KK1255del|MYH11_uc002ddx.2_In_Frame_Del_p.KK1262del|MYH11_uc010bvg.2_In_Frame_Del_p.KK1087del|MYH11_uc010bvh.2_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1255_1256	Potential.		Missing (in AAT4).		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GCGCCTCCAGCTTCTTCTTCTTATGT	0.612			T	CBFB	AML							
PRRT2	112476	broad.mit.edu	37	16	29825146	29825146	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:29825146delG	uc002due.3	+	2	1072	c.771delG	c.(769-771)GAGfs	p.E257fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Frame_Shift_Del_p.E257fs|PRRT2_uc002duf.1_Frame_Shift_Del_p.E257fs|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	257	Extracellular (Potential).				response to biotic stimulus	integral to membrane					0						CTGGGGTGGAGGGGGGTGAAG	0.612												
ITGAL	3683	broad.mit.edu	37	16	30518138	30518138	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:30518138delC	uc002dyi.3	+	21	2645	c.2469delC	c.(2467-2469)TTCfs	p.F823fs	ITGAL_uc002dyj.3_Frame_Shift_Del_p.F739fs|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	823	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	ACCTGCACTTCCCCCCGGGAC	0.597												
IRX3	79191	broad.mit.edu	37	16	54319068	54319068	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:54319068delC	uc002eht.1	-	2	1141	c.725delG	c.(724-726)GGCfs	p.G242fs		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	242	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						caggccctcgccccccgtgtc	0.313												
RLTPR	146206	broad.mit.edu	37	16	67691166	67691166	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:67691166delC	uc002etn.2	+	37	4262	c.4142delC	c.(4141-4143)TCCfs	p.S1381fs	RLTPR_uc010vjr.1_Frame_Shift_Del_p.S1318fs	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	1381	Pro-rich.									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)		CTGCAGCGCTCCCCCGTCCTC	0.632												
USP10	9100	broad.mit.edu	37	16	84806174	84806175	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:84806174_84806175insA	uc002fii.2	+	12	2168_2169	c.2026_2027insA	c.(2026-2028)GAAfs	p.E676fs	USP10_uc010voe.1_Frame_Shift_Ins_p.E680fs|USP10_uc010vof.1_Frame_Shift_Ins_p.E238fs|USP10_uc002fij.2_Frame_Shift_Ins_p.E202fs	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	676					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						AGTGACTCTGGAAAAACTCCCT	0.475												
WDR81	124997	broad.mit.edu	37	17	1638935	1638935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:1638935delC	uc002fti.2	+	8	1829	c.1568delC	c.(1567-1569)GCCfs	p.A523fs	WDR81_uc002fth.2_Frame_Shift_Del_p.A699fs|WDR81_uc010vqp.1_Frame_Shift_Del_p.A547fs|WDR81_uc002ftj.2_Frame_Shift_Del_p.A1750fs|WDR81_uc010vqq.1_Frame_Shift_Del_p.A381fs	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	523										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTCATGCCCGCCCCCCACACC	0.642												
PHF23	79142	broad.mit.edu	37	17	7139763	7139764	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7139763_7139764insG	uc002gfa.2	-	4	709_710	c.482_483insC	c.(481-483)CCTfs	p.P161fs	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Frame_Shift_Ins_p.P94fs|PHF23_uc010cma.2_Frame_Shift_Ins_p.P31fs	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	161							zinc ion binding				0						TAAGAGCAGCAGGGGGCCGGGA	0.589												
CHD3	1107	broad.mit.edu	37	17	7796827	7796827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7796827delC	uc002gje.2	+	5	883	c.733delC	c.(733-735)CCCfs	p.P245fs	CHD3_uc002gjd.2_Frame_Shift_Del_p.P304fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P245fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P77fs	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	245	Poly-Pro.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				CCTTCCACCACCCCCTGCTGC	0.527												
CHD3	1107	broad.mit.edu	37	17	7809229	7809229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7809229delG	uc002gje.2	+	28	4430	c.4280delG	c.(4279-4281)TGGfs	p.W1427fs	CHD3_uc002gjd.2_Frame_Shift_Del_p.W1486fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.W1427fs|CHD3_uc002gjh.2_Frame_Shift_Del_p.W3fs|SCARNA21_uc002gji.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1427					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GTGATGCGCTGGGGGATGCCA	0.582												
MAP2K4	6416	broad.mit.edu	37	17	12011155	12011155	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:12011155delT	uc002gnj.2	+	5	631	c.562delT	c.(562-564)TTTfs	p.F188fs	MAP2K4_uc002gnk.2_Frame_Shift_Del_p.F199fs|MAP2K4_uc010vvi.1_Frame_Shift_Del_p.F70fs|MAP2K4_uc010vvj.1_Frame_Shift_Del_p.F60fs	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	188	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor 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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(1)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GTTTGATAAGTTTTACAAATA	0.294			D|Mis|N		pancreatic|breast|colorectal							
MYOCD	93649	broad.mit.edu	37	17	12642606	12642606	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:12642606delC	uc002gnn.2	+	7	977	c.678delC	c.(676-678)GGCfs	p.G226fs	MYOCD_uc002gno.2_Frame_Shift_Del_p.G226fs|MYOCD_uc002gnp.1_Frame_Shift_Del_p.G130fs	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	226					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGGGCTTGGCCCCCCCAGCA	0.587												
C17orf53	78995	broad.mit.edu	37	17	42225763	42225763	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:42225763delA	uc002ifi.1	+	3	777	c.592delA	c.(592-594)AAAfs	p.K198fs	C17orf53_uc010czq.1_Frame_Shift_Del_p.K198fs|C17orf53_uc002ifj.1_Frame_Shift_Del_p.K198fs|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	198											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGTATTGGCTAAAAAAGCCCG	0.567												
GPATCH8	23131	broad.mit.edu	37	17	42483339	42483339	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:42483339delT	uc002igw.1	-	7	637	c.573delA	c.(571-573)AAAfs	p.K191fs	GPATCH8_uc002igv.1_Frame_Shift_Del_p.K113fs|GPATCH8_uc010wiz.1_Frame_Shift_Del_p.K113fs	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	191						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)		GCCGAAGGGCTTTTTCCTGTT	0.393												
KIAA1267	284058	broad.mit.edu	37	17	44109601	44109601	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:44109601delG	uc002ikb.2	-	13	2987	c.2902delC	c.(2902-2904)CAGfs	p.Q968fs	KIAA1267_uc002ikc.2_Frame_Shift_Del_p.Q968fs|KIAA1267_uc002ikd.2_Frame_Shift_Del_p.Q968fs|KIAA1267_uc010dav.2_Frame_Shift_Del_p.Q967fs|KIAA1267_uc010wkb.1_Frame_Shift_Del_p.Q299fs|KIAA1267_uc010wkc.1_Frame_Shift_Del_p.Q236fs	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	968						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GAGGCAGGCTGGGGGGTGGAG	0.607												
EPX	8288	broad.mit.edu	37	17	56272511	56272511	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:56272511delC	uc002ivq.2	+	6	867	c.781delC	c.(781-783)CCCfs	p.P261fs		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	261					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CGCCCAGCTGCCCCCCTGCTT	0.627												
WDR45L	56270	broad.mit.edu	37	17	80585121	80585121	+	Frame_Shift_Del	DEL	T	T	-	rs143489463		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:80585121delT	uc002kfq.2	-	4	486	c.291delA	c.(289-291)GAAfs	p.E97fs	WDR45L_uc002kfr.2_RNA	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	WDR45-like	97					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			CTGTAGAAAATTCTATTTCAA	0.408												
ZNF750	79755	broad.mit.edu	37	17	80788099	80788099	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:80788099delT	uc002kga.2	-	3	2402	c.2091delA	c.(2089-2091)AAAfs	p.K697fs	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	697						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTTGCTGGGATTTTCCAGCAT	0.572												
TXNDC2	84203	broad.mit.edu	37	18	9887814	9887814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:9887814delG	uc002koi.3	+	2	1787	c.1338delG	c.(1336-1338)GAGfs	p.E446fs	TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Frame_Shift_Del_p.E379fs	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	446	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2						AGTTCCCGGAGGGGGACAAGG	0.572												
B4GALT6	9331	broad.mit.edu	37	18	29264323	29264325	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:29264323_29264325delAGA	uc002kwz.3	-	1	362_364	c.65_67delTCT	c.(64-69)TTCTCC>TCC	p.F22del	B4GALT6_uc010dma.2_In_Frame_Del_p.F22del|B4GALT6_uc010dmb.2_In_Frame_Del_p.F22del	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	22	Helical; Signal-anchor for type II membrane protein; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			GAAGAGAGGGAGAAGAAGAAGAT	0.586												
SETBP1	26040	broad.mit.edu	37	18	42281746	42281746	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:42281746delA	uc010dni.2	+	2	731	c.435delA	c.(433-435)GGAfs	p.G145fs	SETBP1_uc002lay.2_Frame_Shift_Del_p.G145fs	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	145						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCGTGCTGGAAAAAATAGCA	0.448									Schinzel-Giedion_syndrome			
ZBTB7C	201501	broad.mit.edu	37	18	45567076	45567076	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:45567076delC	uc002lda.2	-	1	419	c.403delG	c.(403-405)GAGfs	p.E135fs	ZBTB7C_uc002ldb.2_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnu.2_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dnv.2_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dnw.2_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.E184fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.E143fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.E144fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcatcctcctcccccccgtcc	0.279												
ATP8B1	5205	broad.mit.edu	37	18	55329760	55329760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:55329760delA	uc002lgw.2	-	20	2373	c.2373delT	c.(2371-2373)TTTfs	p.F791fs	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	791	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CACCGGGTGGAAAAAAAGATT	0.443									Byler_disease			
SALL3	27164	broad.mit.edu	37	18	76755298	76755299	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:76755298_76755299insC	uc002lmt.2	+	2	3307_3308	c.3307_3308insC	c.(3307-3309)GCCfs	p.A1103fs	SALL3_uc010dra.2_Frame_Shift_Ins_p.A638fs	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCATGCTGGCCCCCCCACCG	0.743												
C19orf26	255057	broad.mit.edu	37	19	1231206	1231206	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:1231206delC	uc002lrm.2	-	9	1305	c.1030delG	c.(1030-1032)GATfs	p.D344fs		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	370						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGGGGGGCATCCCCCTCCTCC	0.711										HNSCC(14;0.022)		
ATP8B3	148229	broad.mit.edu	37	19	1795906	1795906	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:1795906delC	uc002ltw.2	-	18	2257	c.2023delG	c.(2023-2025)GCAfs	p.A675fs	ATP8B3_uc002ltv.2_Frame_Shift_Del_p.A628fs|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	675	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		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)		AATTCCATTGCCCCCCTCCTG	0.483											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DOT1L	84444	broad.mit.edu	37	19	2226423	2226423	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:2226423delG	uc002lvb.3	+	27	3939	c.3903delG	c.(3901-3903)TCGfs	p.S1301fs	DOT1L_uc002lvc.1_Frame_Shift_Del_p.S595fs	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	1301						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		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)		GCTCCCTGTCGGGGGCTGACG	0.682												
TPM4	7171	broad.mit.edu	37	19	16199871	16199873	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:16199871_16199873delGAA	uc002ndj.2	+	5	713_715	c.472_474delGAA	c.(472-474)GAAdel	p.E160del	TPM4_uc002ndi.2_In_Frame_Del_p.E196del|TPM4_uc002ndk.1_In_Frame_Del_p.E70del	NM_003290	NP_003281	P67936	TPM4_HUMAN	tropomyosin 4 isoform 2	160	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						TGGTGACCTGGAAGAAGAACTCA	0.433			T	ALK	ALCL						OREG0025329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HAUS8	93323	broad.mit.edu	37	19	17186232	17186232	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:17186232delT	uc002nfe.2	-	1	112	c.1delA	c.(1-3)ATGfs	p.M1fs	HAUS8_uc002nff.2_Frame_Shift_Del_p.M1fs|HAUS8_uc002nfg.1_Translation_Start_Site|HAUS8_uc002nfh.1_Frame_Shift_Del_p.M1fs|MYO9B_uc002nfi.2_5'Flank|MYO9B_uc010eak.2_5'Flank	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	sarcoma antigen NY-SAR-48 isoform a	1					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole					0						GAATCCGCCATTTTCCCGCCT	0.657												
OCEL1	79629	broad.mit.edu	37	19	17338803	17338803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:17338803delC	uc002nfp.2	+	4	609	c.607delC	c.(607-609)CCCfs	p.P203fs		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	203										central_nervous_system(1)	1						CCTGCCCCCACCCCAAAGCCA	0.647												
PAK4	10298	broad.mit.edu	37	19	39664319	39664319	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:39664319delC	uc002okj.1	+	6	1228	c.767delC	c.(766-768)GCCfs	p.A256fs	PAK4_uc002okl.1_Frame_Shift_Del_p.A256fs|PAK4_uc002okn.1_Frame_Shift_Del_p.A256fs|PAK4_uc002okm.1_Frame_Shift_Del_p.A103fs|PAK4_uc002oko.1_Frame_Shift_Del_p.A103fs|PAK4_uc002okp.1_Frame_Shift_Del_p.A166fs	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	256	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCCCGAGGTGCCCCCAGCCCT	0.756												
CIC	23152	broad.mit.edu	37	19	42794441	42794441	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:42794441delC	uc002otf.1	+	10	1561	c.1521delC	c.(1519-1521)CGCfs	p.R507fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	507					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)				CCCACTGCCGCCCCCCACTGG	0.622			T	DUX4	soft tissue sarcoma							
XRCC1	7515	broad.mit.edu	37	19	44056299	44056300	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:44056299_44056300insC	uc002owt.2	-	9	1071_1072	c.951_952insG	c.(949-954)GGGAAGfs	p.G317fs	XRCC1_uc010xwp.1_Frame_Shift_Ins_p.G286fs	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	317_318	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				TGAAGGATCTTCCCCAGCTCCT	0.569								Other_BER_factors				
DBP	1628	broad.mit.edu	37	19	49136701	49136703	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:49136701_49136703delCTT	uc002pjx.3	-	3	1148_1150	c.760_762delAAG	c.(760-762)AAGdel	p.K254del	DBP_uc002pjy.2_3'UTR|DBP_uc010elz.1_In_Frame_Del_p.K254del	NM_001352	NP_001343	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box)	254					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CTCTGCTCACCTTCTGCTCCTCC	0.552												
OSR1	130497	broad.mit.edu	37	2	19553155	19553155	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:19553155delC	uc002rdc.2	-	2	715	c.412delG	c.(412-414)GAGfs	p.E138fs		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	odd-skipped related 1	138					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CCTGGGCCCTCCCCGCGACCG	0.632												
ITSN2	50618	broad.mit.edu	37	2	24509095	24509096	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:24509095_24509096insA	uc002rfe.2	-	16	2106_2107	c.1848_1849insT	c.(1846-1851)TTTAACfs	p.F616fs	ITSN2_uc002rff.2_Frame_Shift_Ins_p.F616fs|ITSN2_uc002rfg.2_Frame_Shift_Ins_p.F616fs|ITSN2_uc010eyd.2_Frame_Shift_Ins_p.F641fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	616_617	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTGATTGTTAAAAGAATCCA	0.267												
TET3	200424	broad.mit.edu	37	2	74329152	74329152	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:74329152delG	uc002skb.3	+	9	4832	c.4832delG	c.(4831-4833)TGGfs	p.W1611fs		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1611							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AAGCGCAAGTGGGGGGGCACT	0.687												
AFF3	3899	broad.mit.edu	37	2	100623849	100623849	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:100623849delA	uc002tag.2	-	5	484	c.248delT	c.(247-249)TTAfs	p.L83fs	AFF3_uc002taf.2_Frame_Shift_Del_p.L108fs|AFF3_uc010fiq.1_Frame_Shift_Del_p.L83fs|AFF3_uc010yvr.1_Frame_Shift_Del_p.L237fs|AFF3_uc002tah.1_Frame_Shift_Del_p.L108fs|AFF3_uc010fir.1_Frame_Shift_Del_p.L160fs|AFF3_uc002tai.2_Frame_Shift_Del_p.L5fs	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	83					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TCTATCAGTTAAAAAGTCTTT	0.423												
DPP10	57628	broad.mit.edu	37	2	116534869	116534869	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:116534869delA	uc002tla.1	+	14	1764	c.1307delA	c.(1306-1308)CAAfs	p.Q436fs	DPP10_uc002tlb.1_Frame_Shift_Del_p.Q386fs|DPP10_uc002tlc.1_Frame_Shift_Del_p.Q432fs|DPP10_uc002tle.2_Frame_Shift_Del_p.Q440fs|DPP10_uc002tlf.1_Frame_Shift_Del_p.Q429fs	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	436	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						GAAACTACTCAAAAAATGTGA	0.383												
WDR33	55339	broad.mit.edu	37	2	128477624	128477624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:128477624delG	uc002tpg.1	-	16	2158	c.1975delC	c.(1975-1977)CAGfs	p.Q659fs		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	659	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGCGGGCCCTGGGGCCCCTGT	0.652												
PRPF40A	55660	broad.mit.edu	37	2	153526848	153526849	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:153526848_153526849insT	uc002tyh.3	-	15	1548_1549	c.1526_1527insA	c.(1525-1527)AACfs	p.N509fs	PRPF40A_uc002tyg.3_5'Flank|PRPF40A_uc010zcd.1_Frame_Shift_Ins_p.N456fs	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	536	FF 3.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						TGTCAAGTATGTTTTTTAAGGC	0.361												
HOXD9	3235	broad.mit.edu	37	2	176987697	176987697	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:176987697delT	uc010zex.1	+	1	285	c.201delT	c.(199-201)AGTfs	p.S67fs		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	67						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTCGTGTAGTTTTGCCCCCA	0.751												
NOP58	51602	broad.mit.edu	37	2	203165008	203165009	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:203165008_203165009insA	uc002uzb.2	+	13	1470_1471	c.1320_1321insA	c.(1318-1323)TCTAAAfs	p.S440fs		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein homolog	440_441	Lys-rich.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding				0						CAACCTGTTCTAAAAAACGCAA	0.327												
PSMF1	9491	broad.mit.edu	37	20	1145691	1145691	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:1145691delC	uc002wel.3	+	8	951	c.783delC	c.(781-783)CTCfs	p.L261fs	PSMF1_uc010zpo.1_Intron|PSMF1_uc002wem.3_Intron|PSMF1_uc010zpp.1_Intron|PSMF1_uc002wen.3_Frame_Shift_Del_p.L261fs|PSMF1_uc002wep.3_Frame_Shift_Del_p.L212fs	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	proteasome inhibitor subunit 1	261	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding				0						CAGACCATCTCCCCCCGCCGG	0.577												
CENPB	1059	broad.mit.edu	37	20	3766686	3766686	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:3766686delG	uc002wjk.2	-	1	652	c.445delC	c.(445-447)CGCfs	p.R149fs	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	149					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						GCCGGGGTGCGGGGGGCAGCG	0.781												
ATP9A	10079	broad.mit.edu	37	20	50312634	50312634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:50312634delT	uc002xwg.1	-	6	545	c.545delA	c.(544-546)AACfs	p.N182fs	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	182	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						ATGTTTACCGTTTTTTTCTGA	0.368												
GNAS	2778	broad.mit.edu	37	20	57415732	57415732	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:57415732delG	uc002xzt.2	+	1	938	c.571delG	c.(571-573)GGGfs	p.G191fs	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCAGGGAAGGGGAGGAGCT	0.662			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
DIDO1	11083	broad.mit.edu	37	20	61511207	61511207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:61511207delG	uc002ydr.1	-	16	6365	c.6101delC	c.(6100-6102)CCGfs	p.P2034fs	DIDO1_uc002yds.1_Frame_Shift_Del_p.P2034fs	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	2034	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CCGGTGCTGCGGGGGGTGGCT	0.716												
ERG	2078	broad.mit.edu	37	21	39772564	39772564	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:39772564delC	uc010gnw.2	-	8	993	c.698delG	c.(697-699)GGTfs	p.G233fs	ERG_uc002yxa.2_Frame_Shift_Del_p.G226fs|ERG_uc011aek.1_Frame_Shift_Del_p.G134fs|ERG_uc010gnv.2_Intron|ERG_uc010gnx.2_Intron|ERG_uc011ael.1_Frame_Shift_Del_p.G233fs|ERG_uc002yxb.2_Intron|ERG_uc011aem.1_Intron|ERG_uc002yxc.3_Frame_Shift_Del_p.G233fs|ERG_uc010gny.1_Intron	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	233					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				AAAAGCTGCACCCCCTGCAGA	0.418												
BRWD1	54014	broad.mit.edu	37	21	40570895	40570896	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:40570895_40570896insT	uc002yxk.1	-	40	5585_5586	c.5446_5447insA	c.(5446-5448)ACCfs	p.T1816fs	BRWD1_uc010goc.1_Frame_Shift_Ins_p.T459fs|BRWD1_uc002yxl.2_Frame_Shift_Ins_p.T1816fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAGAATCTTGGTTTTTTTAAAG	0.386												
KRTAP10-9	386676	broad.mit.edu	37	21	46047173	46047173	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:46047173delC	uc002zfp.3	+	1	134	c.85delC	c.(85-87)CCCfs	p.P29fs	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	29	1.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0						CTGCTGTGAGCCCCCCTGCTG	0.697												
DIP2A	23181	broad.mit.edu	37	21	47924285	47924286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:47924285_47924286insC	uc002zjo.2	+	6	850_851	c.667_668insC	c.(667-669)GCCfs	p.A223fs	DIP2A_uc011afy.1_Frame_Shift_Ins_p.A159fs|DIP2A_uc011afz.1_Frame_Shift_Ins_p.A223fs|DIP2A_uc002zjl.2_Frame_Shift_Ins_p.A223fs|DIP2A_uc002zjm.2_Frame_Shift_Ins_p.A223fs|DIP2A_uc010gql.2_Intron|DIP2A_uc002zjn.2_Frame_Shift_Ins_p.A223fs|DIP2A_uc002zjp.1_5'UTR	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	223					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCTGCATTCTGCCCCTCCTGAT	0.505												
MED15	51586	broad.mit.edu	37	22	20936976	20936976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:20936976delC	uc002zsp.2	+	10	1431	c.1351delC	c.(1351-1353)CCCfs	p.P451fs	MED15_uc002zsq.2_Frame_Shift_Del_p.P411fs|MED15_uc010gso.2_Frame_Shift_Del_p.P394fs|MED15_uc002zsr.2_Frame_Shift_Del_p.P385fs|MED15_uc011ahs.1_Frame_Shift_Del_p.P385fs|MED15_uc002zss.2_Frame_Shift_Del_p.P330fs|MED15_uc011ahu.1_Frame_Shift_Del_p.P161fs|MED15_uc002zst.2_Frame_Shift_Del_p.P67fs|MED15_uc002zsu.2_Frame_Shift_Del_p.P56fs	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	451	Pro-rich.|Poly-Pro.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GATGCCCCCTCCCCCCCAGCC	0.726												
MN1	4330	broad.mit.edu	37	22	28193255	28193255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:28193255delC	uc003adj.2	-	1	4232	c.3277delG	c.(3277-3279)GAAfs	p.E1093fs		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1093							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GGTCCGTGTTCCCCGGCGCCT	0.697			T	ETV6	AML|meningioma							
SH3BP1	23616	broad.mit.edu	37	22	38042889	38042890	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:38042889_38042890insC	uc003ati.2	+	11	1100_1101	c.989_990insC	c.(988-990)GACfs	p.D330fs	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Frame_Shift_Ins_p.D330fs|SH3BP1_uc003ath.1_Frame_Shift_Ins_p.D330fs|SH3BP1_uc003atj.1_Frame_Shift_Ins_p.D266fs|SH3BP1_uc003atk.1_Frame_Shift_Ins_p.D244fs|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	330	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					ATGGCCTCGGACCCCCACAGCC	0.678												
BRD1	23774	broad.mit.edu	37	22	50169305	50169306	+	Frame_Shift_Ins	INS	-	-	C	rs145188239		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:50169305_50169306insC	uc003biv.2	-	11	3413_3414	c.2926_2927insG	c.(2926-2928)GAGfs	p.E976fs	BRD1_uc011arf.1_Frame_Shift_Ins_p.E702fs|BRD1_uc011arg.1_Frame_Shift_Ins_p.E1025fs|BRD1_uc011arh.1_Frame_Shift_Ins_p.E976fs|BRD1_uc003biu.3_Frame_Shift_Ins_p.E1107fs	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	976	PWWP.				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)		CTGCATGTGCTCCCCAATCTTC	0.569												
SRGAP3	9901	broad.mit.edu	37	3	9074429	9074430	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:9074429_9074430insG	uc003brf.1	-	12	2119_2120	c.1443_1444insC	c.(1441-1446)CCCTGTfs	p.P481fs	SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_RNA	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	481_482	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGGGGAAGACAGGGGGGCCTAG	0.441			T	RAF1	pilocytic astrocytoma							
SLC6A11	6538	broad.mit.edu	37	3	10861469	10861469	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:10861469delT	uc003bvz.2	+	3	498	c.464delT	c.(463-465)ATTfs	p.I155fs	SLC6A11_uc003bvy.1_Frame_Shift_Del_p.I155fs	NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	155	Extracellular (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCATGGGCCATTTTTTACCTG	0.507												
METTL6	131965	broad.mit.edu	37	3	15455535	15455535	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:15455535delA	uc003bzs.1	-	5	924	c.666delT	c.(664-666)TTTfs	p.F222fs	METTL6_uc011avp.1_Frame_Shift_Del_p.F177fs|METTL6_uc010hen.1_Frame_Shift_Del_p.F26fs	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	methyltransferase like 6	222							methyltransferase activity				0						TACCATCAGTAAAAAAATATG	0.363												
SETD2	29072	broad.mit.edu	37	3	47103754	47103755	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:47103754_47103755insTC	uc003cqs.2	-	14	6244_6245	c.6191_6192insGA	c.(6190-6192)GACfs	p.D2064fs	SETD2_uc003cqv.2_Frame_Shift_Ins_p.D2131fs|SETD2_uc003cqt.1_RNA	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2064					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCTTGTCTGGGTCTCTCTCTCT	0.485			N|F|S|Mis		clear cell renal carcinoma							
SMARCC1	6599	broad.mit.edu	37	3	47677558	47677559	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:47677558_47677559insT	uc003crq.2	-	23	2562_2563	c.2444_2445insA	c.(2443-2445)AATfs	p.N815fs	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Frame_Shift_Ins_p.N706fs	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	815	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CCTTTTCACTATTTTTTTCATT	0.356												
RBM6	10180	broad.mit.edu	37	3	50095229	50095230	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:50095229_50095230insA	uc003cyc.2	+	9	1895_1896	c.1762_1763insA	c.(1762-1764)GAAfs	p.E588fs	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Frame_Shift_Ins_p.E107fs|RBM6_uc003cyd.2_Frame_Shift_Ins_p.E66fs|RBM6_uc003cye.2_Frame_Shift_Ins_p.E66fs|RBM6_uc011bdi.1_5'UTR|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	588					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGCACCATTGGAAAAACAGCCC	0.465												
CCDC66	285331	broad.mit.edu	37	3	56651196	56651197	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:56651196_56651197delGA	uc003dhz.2	+	14	1987_1988	c.1900_1901delGA	c.(1900-1902)GAGfs	p.E634fs	CCDC66_uc003dhy.2_Frame_Shift_Del_p.E270fs|CCDC66_uc003dhu.2_Frame_Shift_Del_p.E600fs|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_Frame_Shift_Del_p.E2fs	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	634										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATCATTAATGGAGAGGGACATC	0.312												
SUCLG2	8801	broad.mit.edu	37	3	67570954	67570955	+	Frame_Shift_Ins	INS	-	-	C	rs61756471	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:67570954_67570955insC	uc003dna.3	-	5	549_550	c.521_522insG	c.(520-522)GGCfs	p.G174fs	SUCLG2_uc010hob.2_Frame_Shift_Ins_p.G55fs	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	174	ATP-grasp.			GV -> RS (in Ref. 2; AAC64397).	succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CAATGTCGACGCCCCCCTGGGG	0.505												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632												
KALRN	8997	broad.mit.edu	37	3	124174076	124174076	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:124174076delA	uc003ehg.2	+	22	3726	c.3599delA	c.(3598-3600)GAAfs	p.E1200fs	KALRN_uc010hrv.1_Frame_Shift_Del_p.E1191fs|KALRN_uc003ehf.1_Frame_Shift_Del_p.E1200fs|KALRN_uc011bjy.1_Frame_Shift_Del_p.E1191fs|KALRN_uc003ehh.1_Frame_Shift_Del_p.E546fs	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1200	Spectrin 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AGCTTTGTGGAAAAAGGCCAC	0.468												
UMPS	7372	broad.mit.edu	37	3	124457070	124457071	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:124457070_124457071insA	uc003ehl.3	+	3	1072_1073	c.966_967insA	c.(964-969)GTGAAAfs	p.V322fs	UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Frame_Shift_Ins_p.V144fs|UMPS_uc011bkb.1_Frame_Shift_Ins_p.V230fs|UMPS_uc011bkc.1_Frame_Shift_Ins_p.V144fs|UMPS_uc003ehn.3_Frame_Shift_Ins_p.V144fs|UMPS_uc011bkd.1_Frame_Shift_Ins_p.V144fs	NM_000373	NP_000364	P11172	UMPS_HUMAN	uridine monophosphate synthase	322_323	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)		GAAACACAGTGAAAAAGCAGTA	0.252												
RAB7A	7879	broad.mit.edu	37	3	128516847	128516848	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:128516847_128516848insCC	uc003eks.1	+	3	347_348	c.115_116insCC	c.(115-117)GCCfs	p.A39fs	RAB7A_uc010hsv.1_Frame_Shift_Ins_p.A39fs|RAB7A_uc003ekt.2_Frame_Shift_Ins_p.A15fs	NM_004637	NP_004628	P51149	RAB7A_HUMAN	RAB7, member RAS oncogene family	39	Effector region (By similarity).				endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding				0				GBM - Glioblastoma multiforme(114;0.231)		TCAGTACAAAGCCACAATAGGA	0.441												
NPHP3	27031	broad.mit.edu	37	3	132424628	132424630	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:132424628_132424630delCTT	uc003epe.1	-	8	1381_1383	c.1304_1306delAAG	c.(1303-1308)GAAGGA>GGA	p.E435del	NPHP3_uc003epf.1_In_Frame_Del_p.E190del	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	435					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						TTATATACTCCTTCTGCAGGATC	0.271												
C3orf33	285315	broad.mit.edu	37	3	155481462	155481463	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:155481462_155481463insA	uc003fal.1	-	6	869_870	c.599_600insT	c.(598-600)TTAfs	p.L200fs	C3orf33_uc003fam.1_Frame_Shift_Ins_p.L243fs	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	hypothetical protein LOC285315	200							hydrolase activity, acting on ester bonds|nucleic acid binding				0			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGTTGTTTTTAAAAAACTGTC	0.302												
MECOM	2122	broad.mit.edu	37	3	168833604	168833605	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:168833604_168833605insT	uc003ffi.3	-	7	1760_1761	c.1491_1492insA	c.(1489-1494)AAAGTTfs	p.K497fs	MECOM_uc010hwk.1_Frame_Shift_Ins_p.K520fs|MECOM_uc003ffj.3_Frame_Shift_Ins_p.K562fs|MECOM_uc011bpi.1_Frame_Shift_Ins_p.K498fs|MECOM_uc003ffn.3_Frame_Shift_Ins_p.K497fs|MECOM_uc003ffk.2_Frame_Shift_Ins_p.K497fs|MECOM_uc003ffl.2_Frame_Shift_Ins_p.K657fs|MECOM_uc011bpj.1_Frame_Shift_Ins_p.K685fs|MECOM_uc011bpk.1_Frame_Shift_Ins_p.K487fs|MECOM_uc010hwn.2_Frame_Shift_Ins_p.K685fs	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	497_498					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						AAAGCTCCAACTTTTTTGTCTT	0.431												
EIF5A2	56648	broad.mit.edu	37	3	170624844	170624844	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:170624844delT	uc003fhd.2	-	3	334	c.204delA	c.(202-204)AAAfs	p.K68fs		NM_020390	NP_065123	Q9GZV4	IF5A2_HUMAN	eIF-5A2 protein	68					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity				0	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			TATCTTCATATTTTTTGCCCG	0.343												
KIAA0226	9711	broad.mit.edu	37	3	197427748	197427748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:197427748delG	uc003fyc.2	-	7	1180	c.997delC	c.(997-999)CGAfs	p.R333fs	KIAA0226_uc003fyd.3_Frame_Shift_Del_p.R273fs|KIAA0226_uc003fye.1_Frame_Shift_Del_p.R40fs|KIAA0226_uc003fyf.2_Frame_Shift_Del_p.R166fs|KIAA0226_uc003fyg.2_Frame_Shift_Del_p.R326fs	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	333	Ser-rich.				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)		GTCCGGCCTCGGGGGTCCAAG	0.597												
HAUS3	79441	broad.mit.edu	37	4	2242634	2242634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:2242634delT	uc003ges.1	-	2	270	c.40delA	c.(40-42)ATTfs	p.I14fs	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Frame_Shift_Del_p.I14fs|HAUS3_uc003get.1_Frame_Shift_Del_p.I14fs	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	14					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						GGATAACCAATTTTTTTTAAT	0.353												
N4BP2	55728	broad.mit.edu	37	4	40121855	40121855	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:40121855delA	uc003guy.3	+	9	2462	c.2124delA	c.(2122-2124)GTAfs	p.V708fs	N4BP2_uc010ifq.2_Frame_Shift_Del_p.V628fs|N4BP2_uc010ifr.2_Frame_Shift_Del_p.V628fs	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	708						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TGGTGGCTGTAAAAGGGTATA	0.363												
UGT2B4	7363	broad.mit.edu	37	4	70360942	70360942	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:70360942delT	uc003hek.3	-	1	685	c.638delA	c.(637-639)AATfs	p.N213fs	UGT2B4_uc011cap.1_Frame_Shift_Del_p.N77fs|UGT2B4_uc003hel.3_Frame_Shift_Del_p.N213fs	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	213					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						ATAGATCATATTTTTTACCCT	0.353												
CSN1S1	1446	broad.mit.edu	37	4	70810695	70810695	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:70810695delA	uc003hep.1	+	15	579	c.530delA	c.(529-531)GAAfs	p.E177fs	CSN1S1_uc003heq.1_Frame_Shift_Del_p.E168fs|CSN1S1_uc003her.1_Frame_Shift_Del_p.E169fs	NM_001890	NP_001881	P47710	CASA1_HUMAN	casein alpha s1 isoform 1	177						extracellular region	protein binding|transporter activity				0						GAAAATTATGAAAAAAATAAC	0.393												
LARP7	51574	broad.mit.edu	37	4	113567544	113567545	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:113567544_113567545insA	uc003iay.2	+	3	518_519	c.240_241insA	c.(238-243)ATGAAAfs	p.M80fs	LARP7_uc003iaz.2_Frame_Shift_Ins_p.M87fs|LARP7_uc003iba.2_Frame_Shift_Ins_p.M1fs|LARP7_uc003ibb.2_Frame_Shift_Ins_p.M80fs	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	80_81	HTH La-type RNA-binding.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(3)	3		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTAACAAAATGAAAAAATTGAC	0.287												
MAP9	79884	broad.mit.edu	37	4	156273869	156273869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:156273869delT	uc003ios.2	-	13	1964	c.1700delA	c.(1699-1701)AAGfs	p.K567fs	MAP9_uc011cin.1_Frame_Shift_Del_p.K542fs|MAP9_uc010iqa.1_RNA	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	567	Potential.				cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AAAAGCTTCCTTTTTTTCATT	0.189												
MED10	84246	broad.mit.edu	37	5	6372636	6372636	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:6372636delC	uc003jdo.2	-	4	431	c.388delG	c.(388-390)GAGfs	p.E130fs		NM_032286	NP_115662	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	130					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(1)	1						GGGTGATCCTCCCCCCGGATG	0.498												
C5orf42	65250	broad.mit.edu	37	5	37167150	37167150	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:37167150delT	uc011cpa.1	-	35	7630	c.7399delA	c.(7399-7401)AGGfs	p.R2467fs	C5orf42_uc011coy.1_Frame_Shift_Del_p.R967fs|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Frame_Shift_Del_p.R1542fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2467										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAGCCTTGCCTTTTTTTACTG	0.323												
EGFLAM	133584	broad.mit.edu	37	5	38407192	38407192	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:38407192delG	uc003jlc.1	+	8	1415	c.1091delG	c.(1090-1092)TGGfs	p.W364fs	EGFLAM_uc003jlb.1_Frame_Shift_Del_p.W364fs|EGFLAM_uc003jle.1_Frame_Shift_Del_p.W130fs|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GACTACACCTGGGGGGGCTCG	0.547												
PIK3R1	5295	broad.mit.edu	37	5	67522741	67522741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:67522741delA	uc003jva.2	+	2	798	c.238delA	c.(238-240)AAAfs	p.K80fs	PIK3R1_uc003jvb.2_Frame_Shift_Del_p.K80fs	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	80					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TATTGGAAGGAAAAAAATCTC	0.493			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)		
CSNK1G3	1456	broad.mit.edu	37	5	122926143	122926144	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:122926143_122926144insT	uc003ktm.2	+	9	1600_1601	c.881_882insT	c.(880-882)GATfs	p.D294fs	CSNK1G3_uc003ktl.2_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc003ktn.2_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc003kto.2_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc011cwr.1_Frame_Shift_Ins_p.D219fs|CSNK1G3_uc011cws.1_Frame_Shift_Ins_p.D182fs|CSNK1G3_uc010jda.2_Frame_Shift_Ins_p.D295fs	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	294	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AGAAGGCTAGATTTTTTTGAAA	0.262												
TRPC7	57113	broad.mit.edu	37	5	135610472	135610473	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:135610472_135610473insT	uc003lbn.1	-	3	1016_1017	c.1013_1014insA	c.(1012-1014)AATfs	p.N338fs	TRPC7_uc010jef.1_Intron|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Frame_Shift_Ins_p.N269fs|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	339	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCCTGAGAGATTTTCATACCA	0.406												
MYOT	9499	broad.mit.edu	37	5	137206445	137206448	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:137206445_137206448delCAAA	uc011cye.1	+	2	122_125	c.105_108delCAAA	c.(103-108)ACCAAAfs	p.T35fs	MYOT_uc003lbv.2_Frame_Shift_Del_p.T35fs|MYOT_uc011cyg.1_Intron|MYOT_uc011cyh.1_Intron	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	35_36					muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTAGCCAGACCAAACAGTCTTCCA	0.505												
PCDHB4	56131	broad.mit.edu	37	5	140502701	140502701	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140502701delC	uc003lip.1	+	1	1121	c.1121delC	c.(1120-1122)TCCfs	p.S374fs		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	374	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAGAGATTCCGGAGAAAAT	0.408												
FBXO38	81545	broad.mit.edu	37	5	147782052	147782052	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:147782052delA	uc003lpf.1	+	5	688	c.568delA	c.(568-570)AAAfs	p.K190fs	FBXO38_uc003lpg.1_Frame_Shift_Del_p.K190fs|FBXO38_uc003lph.2_Frame_Shift_Del_p.K190fs	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	190						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATAGGAGCCAAAATTCAAAC	0.333												
C6orf138	442213	broad.mit.edu	37	6	47846834	47846835	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:47846834_47846835insT	uc011dwm.1	-	3	1779_1780	c.1694_1695insA	c.(1693-1695)AAGfs	p.K565fs	C6orf138_uc011dwn.1_Frame_Shift_Ins_p.K329fs	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	582						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						GGAATTCTGGCTTTTTTAAAAA	0.441												
LIN28B	389421	broad.mit.edu	37	6	105474236	105474236	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:105474236delA	uc003pqv.1	+	3	465	c.262delA	c.(262-264)AAAfs	p.K88fs	LIN28B_uc010kda.1_Frame_Shift_Del_p.K48fs	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	lin-28 homolog B	88	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding				0		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATTCACATTTAAAAAATCTTC	0.438												
REV3L	5980	broad.mit.edu	37	6	111696108	111696108	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:111696108delA	uc003puy.3	-	13	3773	c.3450delT	c.(3448-3450)TTTfs	p.F1150fs	REV3L_uc003pux.3_Frame_Shift_Del_p.F1072fs|REV3L_uc003puz.3_Frame_Shift_Del_p.F1072fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1150					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAGGACCCTTAAAAAGCATTG	0.418								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
FRK	2444	broad.mit.edu	37	6	116325059	116325059	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:116325059delT	uc003pwi.1	-	2	894	c.447delA	c.(445-447)AAAfs	p.K149fs		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	149	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AGAATTCTCCTTTTTGGCTTT	0.398												
SLC2A12	154091	broad.mit.edu	37	6	134349584	134349584	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:134349584delA	uc003qem.1	-	2	1550	c.1379delT	c.(1378-1380)TTGfs	p.L460fs		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	460	Extracellular (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)		CAGCCATTTCAAAAAAGCTGG	0.433												
NOX3	50508	broad.mit.edu	37	6	155757642	155757643	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:155757642_155757643insAG	uc003qqm.2	-	7	810_811	c.707_708insCT	c.(706-708)CTGfs	p.L236fs		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	236	Extracellular (Potential).|Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGATGTTGTGCAGAGAGAGACT	0.446												
EIF3B	8662	broad.mit.edu	37	7	2404086	2404086	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:2404086delG	uc003slx.2	+	6	1162	c.1079delG	c.(1078-1080)TGGfs	p.W360fs	EIF3B_uc003sly.2_Frame_Shift_Del_p.W360fs|EIF3B_uc003slz.1_Frame_Shift_Del_p.W321fs|EIF3B_uc003sma.2_Frame_Shift_Del_p.W88fs	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	360	Sufficient for interaction with EIF3E.|WD 1.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATTGCTCTATGGGGGGGAGAG	0.478												
USP42	84132	broad.mit.edu	37	7	6196576	6196577	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:6196576_6196577delCT	uc011jwo.1	+	16	3956_3957	c.3833_3834delCT	c.(3832-3834)CCTfs	p.P1278fs	USP42_uc011jwp.1_Frame_Shift_Del_p.P1278fs|USP42_uc011jwq.1_Frame_Shift_Del_p.P1085fs	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1278					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GGTGGCTTTCCTCTCTCTGGTG	0.535												
CASD1	64921	broad.mit.edu	37	7	94185017	94185017	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:94185017delT	uc003uni.3	+	18	2568	c.2341delT	c.(2341-2343)TTTfs	p.F781fs	CASD1_uc003unj.3_Frame_Shift_Del_p.F781fs	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	781	Helical; (Potential).					integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TATAGCTGCATTTTTTTGTGG	0.338												
RINT1	60561	broad.mit.edu	37	7	105182902	105182902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:105182902delA	uc003vda.1	+	4	552	c.321delA	c.(319-321)TTAfs	p.L107fs	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	107	Potential.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						GAAGTGCCTTAAAAAATGCAG	0.353												
CTTNBP2	83992	broad.mit.edu	37	7	117431318	117431318	+	Frame_Shift_Del	DEL	G	G	-	rs148428403		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:117431318delG	uc003vjf.2	-	4	2024	c.1932delC	c.(1930-1932)CCCfs	p.P644fs		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	644										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGTTCAGTCCGGGGGTTGCAG	0.547												
LUZP6	767558	broad.mit.edu	37	7	135636279	135636280	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:135636279_135636280insT	uc003vte.3	-	2	527_528	c.171_172insA	c.(169-174)AAAGGAfs	p.K57fs	LUZP6_uc010lmv.2_Intron	NM_145808	NP_665807	Q538Z0	LUZP6_HUMAN	myotrophin	Error:Variant_position_missing_in_Q538Z0_after_alignment											0						ATATCTGCTCCTTTCAGCAGCA	0.376												
MGAM	8972	broad.mit.edu	37	7	141736720	141736720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:141736720delC	uc003vwy.2	+	18	2228	c.2174delC	c.(2173-2175)ACCfs	p.T725fs		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	725	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACCTATACACCCTCTTCTTC	0.507												
LRP12	29967	broad.mit.edu	37	8	105509439	105509440	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:105509439_105509440insT	uc003yma.2	-	5	1435_1436	c.1340_1341insA	c.(1339-1341)AACfs	p.N447fs	LRP12_uc003ymb.2_Frame_Shift_Ins_p.N428fs|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	447	Extracellular (Potential).|LDL-receptor class A 4.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAAAAGCAGTTTTTTTCATC	0.421												
TYRP1	7306	broad.mit.edu	37	9	12708067	12708068	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:12708067_12708068insC	uc003zkv.3	+	7	1510_1511	c.1332_1333insC	c.(1330-1335)TGGCCCfs	p.W444fs		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	444_445	Lumenal, melanosome (Potential).				melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TGCCATTCTGGCCCCCAGTCAC	0.376									Oculocutaneous_Albinism			
MPDZ	8777	broad.mit.edu	37	9	13125277	13125277	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:13125277delT	uc010mia.1	-	34	4802	c.4745delA	c.(4744-4746)AAGfs	p.K1582fs	MPDZ_uc003zky.3_Frame_Shift_Del_p.K144fs|MPDZ_uc010mib.2_Frame_Shift_Del_p.K287fs|MPDZ_uc010mhx.2_Frame_Shift_Del_p.K404fs|MPDZ_uc011lmm.1_Frame_Shift_Del_p.K441fs|MPDZ_uc003zkz.3_Frame_Shift_Del_p.K275fs|MPDZ_uc010mhy.2_Frame_Shift_Del_p.K1582fs|MPDZ_uc010mhz.2_Frame_Shift_Del_p.K1549fs|MPDZ_uc011lmn.1_Frame_Shift_Del_p.K1549fs|MPDZ_uc003zlb.3_Frame_Shift_Del_p.K1582fs	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1582					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		GGAGCTGTTCTTTTTTTCTCC	0.517												
PTPDC1	138639	broad.mit.edu	37	9	96864016	96864017	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:96864016_96864017insT	uc004auf.1	+	8	2360_2361	c.2020_2021insT	c.(2020-2022)CTTfs	p.L674fs	PTPDC1_uc004aug.1_Frame_Shift_Ins_p.L669fs|PTPDC1_uc004auh.1_Frame_Shift_Ins_p.L726fs|PTPDC1_uc010mrj.1_Frame_Shift_Ins_p.L728fs	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	674							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						CGCAGAAGCACTTTTTTTATTA	0.426												
POLE3	54107	broad.mit.edu	37	9	116171195	116171195	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:116171195delT	uc011lxg.1	-	4	722	c.340delA	c.(340-342)ACAfs	p.T114fs	POLE3_uc004bhn.2_Frame_Shift_Del_p.T114fs|C9orf43_uc004bho.3_5'Flank|C9orf43_uc004bhp.2_5'Flank	NM_017443	NP_059139	Q9NRF9	DPOE3_HUMAN	DNA-directed DNA polymerase epsilon 3	114	Potential.				DNA replication|histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding				0						tccgagtctgtttttttgtct	0.199												
LRSAM1	90678	broad.mit.edu	37	9	130236099	130236099	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:130236099delC	uc004brb.1	+	11	984	c.639delC	c.(637-639)TACfs	p.Y213fs	LRSAM1_uc010mxk.1_Frame_Shift_Del_p.Y213fs|LRSAM1_uc004brc.1_Frame_Shift_Del_p.Y213fs|LRSAM1_uc004brd.1_Frame_Shift_Del_p.Y213fs	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	213					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						TGGAATACTACCCCCCTTCTC	0.582												
KIAA0649	9858	broad.mit.edu	37	9	138379043	138379043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:138379043delG	uc004cfr.1	+	4	3236	c.2687delG	c.(2686-2688)AGGfs	p.R896fs		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	896						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CAGAGGGCCAGGGGGGTCCCA	0.701												
SNAPC4	6621	broad.mit.edu	37	9	139272220	139272220	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:139272220delC	uc004chh.2	-	21	4068	c.4059delG	c.(4057-4059)GGGfs	p.G1353fs		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1353	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCTGGAGCTGCCCCCGCACCA	0.721												
SNAPC4	6621	broad.mit.edu	37	9	139272275	139272275	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:139272275delC	uc004chh.2	-	21	4013	c.4004delG	c.(4003-4005)GGCfs	p.G1335fs		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1335	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CTCAGCCTCGCCCCCCACCAC	0.701												
TUBB2C	10383	broad.mit.edu	37	9	140137090	140137091	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:140137090_140137091insG	uc004cmh.1	+	4	522_523	c.420_421insG	c.(418-423)GGTGGGfs	p.G140fs	TUBB2C_uc004cmg.1_5'UTR	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	140_141	GTP (Potential).				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACTCCCTGGGTGGGGGGACTGG	0.599												
MAGEC3	139081	broad.mit.edu	37	X	140983317	140983317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:140983317delG	uc011mwp.1	+	6	1095	c.1095delG	c.(1093-1095)GAGfs	p.E365fs	MAGEC3_uc004fbs.2_Intron|MAGEC3_uc010nsj.2_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	365	MAGE 1.			GLTEASPQQKKGG -> SSPLPSTLILGVP (in Ref. 3).						skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGACCGAGGCGTCCCCAC	0.612												
EPHA2	1969	broad.mit.edu	37	1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:16462198_16462198CG>C	uc001aya.2	-	5	1535	c.1380_1380CG>G	c.(1378-1380)ccgfs	p.P460fs	EPHA2_uc010oca.2_Frame_Shift_Del_p.P460fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	460	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.P460fs*33(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCTGCTGCGGCGGGGGGATGC	0.662												
ALPL	249	broad.mit.edu	37	1	21889689	21889689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:21889688_21889688TG>T	uc001bet.3	+	4	640	c.383_383TG>T	c.(382-384)gtgfs	p.V128fs	ALPL_uc010odo.2_Frame_Shift_Del_p.V73fs|ALPL_uc010odp.2_Frame_Shift_Del_p.V51fs|ALPL_uc010odn.2_Frame_Shift_Del_p.V76fs|ALPL_uc001beu.4_Frame_Shift_Del_p.V128fs	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	128			V -> M (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GAGGGCACCGTGGGGGTAAGC	0.662												
TCEA3	6920	broad.mit.edu	37	1	23710913	23710914	+	Splice_Site	DEL	GA	GA	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:23710912_23710913TGA>T	uc021oig.1	-	10	1102	c.967_splice	c.e10-1	p.V323_splice	TCEA3_uc009vqm.2_Intron	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	323					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TGTCTGCACCTGAGAGAGAGAA	0.495												
MAN1C1	57134	broad.mit.edu	37	1	26104704	26104704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:26104703_26104703CG>C	uc001bkm.2	+	8	1695	c.1365_1365CG>C	c.(1363-1365)tccfs	p.S455fs	MAN1C1_uc009vry.1_Frame_Shift_Del_p.S275fs	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	455					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.S455S(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCTGTTTCTCCGGGGGCATGA	0.607												
ARID1A	8289	broad.mit.edu	37	1	27100182	27100183	+	In_Frame_Ins	INS	-	-	GCA			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:27100181_27100182C>CGCA	uc001bmv.1	+	15	4350_4351	c.3977_3978C>CGCA	c.(3976-3978)ccg>cCGCA	p.P1326P	ARID1A_uc001bmt.1_In_Frame_Ins_p.P1325P|ARID1A_uc001bmu.1_In_Frame_Ins_p.P1326P|ARID1A_uc001bmw.1_In_Frame_Ins_p.P943P|ARID1A_uc001bmx.1_In_Frame_Ins_p.P172P|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1326					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.P1326fs*155(2)|p.Q1334delQ(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)		CGCTACCCCCCgcagcagcagc	0.589			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
MACF1	23499	broad.mit.edu	37	1	39798936	39798936	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:39798935_39798935CA>C	uc021olw.1	+	0	1995	c.1995_1995CA>C	c.(1993-1995)gacfs	p.D665fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2230					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	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)			ATCCTCTGGACAAAAAGGAAA	0.358												
FAM151A	338094	broad.mit.edu	37	1	55081757	55081757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:55081756_55081756TG>T	uc001cxn.3	-	2	484	c.352_352CA>A	c.(352-354)actfs	p.T118fs	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGT	0.592												
C1orf168	199920	broad.mit.edu	37	1	57219586	57219586	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:57219585_57219585AT>A	uc001cym.4	-	7	1560	c.1154_1154AT>T	c.(1153-1155)atgfs	p.M385fs	C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	385										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTTTTCCTTCATTTTTTTATC	0.338												
ARHGAP29	9411	broad.mit.edu	37	1	94668131	94668131	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:94668130_94668130CT>C	uc001dqj.4	-	10	1482	c.1113_1113AG>G	c.(1111-1113)aagfs	p.K371fs	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Frame_Shift_Del_p.K371fs	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	371					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCAACCTTCGCTTTTTTTCTA	0.393												
AGL	178	broad.mit.edu	37	1	100380997	100380997	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:100380996_100380996GA>G	uc001dsi.1	+	30	4613	c.4213_4213GA>G	c.(4213-4215)gaafs	p.E1405fs	AGL_uc001dsj.1_Frame_Shift_Del_p.E1405fs|AGL_uc001dsk.1_Frame_Shift_Del_p.E1405fs|AGL_uc001dsl.1_Frame_Shift_Del_p.E1405fs|AGL_uc001dsm.1_Frame_Shift_Del_p.E1389fs|AGL_uc001dsn.1_Frame_Shift_Del_p.E1388fs	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1405					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAGATTGCAGAAAAAAAATT	0.328												
CDC14A	8556	broad.mit.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-	rs138415707		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTAT	0.403												
PLEKHO1	51177	broad.mit.edu	37	1	150131249	150131249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:150131248_150131248AC>A	uc001ett.3	+	5	1038	c.760_760AC>A	c.(760-762)accfs	p.T254fs	PLEKHO1_uc001ets.3_Frame_Shift_Del_p.T71fs|PLEKHO1_uc001etu.3_Frame_Shift_Del_p.T82fs|PLEKHO1_uc021oyc.1_Frame_Shift_Del_p.T71fs	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	254	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCCACCTACACCCCCCAGGC	0.647												
FLG	2312	broad.mit.edu	37	1	152286885	152286885	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:152286884_152286884CT>C	uc001ezu.1	-	2	514	c.478_478AG>G	c.(478-480)gaafs	p.E160fs	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	160					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTTTCTTTCTTTTTTTTCA	0.338									Ichthyosis			
SLC27A3	11000	broad.mit.edu	37	1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:153751859_153751859TC>T	uc001fcz.3	+	8	1991	c.1926_1926TC>T	c.(1924-1926)cgtfs	p.R642fs	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	642					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGTTCTGCGTCCCCCCCACG	0.622												
TMEM79	84283	broad.mit.edu	37	1	156255498	156255499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:156255497_156255498G>GC	uc010phi.2	+	1	676_677	c.480_481G>GC	c.(478-483)atgcccfs	p.M160fs	SMG5_uc001foc.4_5'Flank|TMEM79_uc001fod.3_Frame_Shift_Ins_p.M1fs|TMEM79_uc009wrw.3_Frame_Shift_Ins_p.M160fs	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	160						integral to membrane		p.R163fs*17(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GAACCTTCATGCCCCCCCGGGT	0.658												
OR6K6	128371	broad.mit.edu	37	1	158725437	158725437	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:158725436_158725436AT>A	uc001fsw.1	+	0	831	c.831_831AT>A	c.(829-831)ctafs	p.L277fs		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGTTCTTGCTATTTTTTGGCA	0.458												
KCNJ10	3766	broad.mit.edu	37	1	160012018	160012018	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:160012017_160012017CG>C	uc001fuw.2	-	1	546	c.306_306CG>G	c.(304-306)ccgfs	p.P102fs		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	102						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGGTTGGCCGGGGGGTCCA	0.582												
CACNA1E	777	broad.mit.edu	37	1	181708298	181708299	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:181708297_181708298C>CT	uc009wxt.3	+	24	3822_3823	c.3627_3628C>CT	c.(3625-3630)ggcttgfs	p.G1209fs	CACNA1E_uc001gow.3_Frame_Shift_Ins_p.G1209fs|CACNA1E_uc009wxs.3_Frame_Shift_Ins_p.G1190fs|CACNA1E_uc001gox.1_Frame_Shift_Ins_p.G435fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1209					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TAGACCAAGGCTTGATCCTGCA	0.535												
NEK7	140609	broad.mit.edu	37	1	198222298	198222299	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:198222297_198222298T>TA	uc001gun.4	+	2	512_513	c.185_186T>TA	c.(184-186)ttafs	p.L62fs	NEK7_uc021pgx.1_Frame_Shift_Ins_p.L62fs	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	62	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.V65fs*5(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CCAGTAGCTTTAAAAAAAGTGC	0.317												
C1orf124	83932	broad.mit.edu	37	1	231488894	231488895	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:231488893_231488894A>AT	uc001hur.3	+	4	1704_1705	c.1256_1257A>AT	c.(1255-1257)aatfs	p.N419fs	C1orf124_uc001hus.3_3'UTR|C1orf124_uc001hut.3_3'UTR	NM_032018	NP_114407	Q9H040	CA124_HUMAN	Homo sapiens chromosome 1 open reading frame 124 (C1orf124), transcript variant 1, mRNA.	419					DNA repair	nuclear speck	DNA binding|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GTTTTTGACAATTTTTTTATCA	0.396												
CHRM3	1131	broad.mit.edu	37	1	240072444	240072445	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:240072443_240072444C>CA	uc021plc.1	+	0	1692_1693	c.1692_1693C>CA	c.(1690-1695)gacaaafs	p.D564fs	CHRM3_uc001hyp.3_Frame_Shift_Ins_p.D564fs	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	564					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	p.R568fs*>24(1)|p.K567fs*>24(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	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)	GCCAGTGTGACAAAAAAAAGAG	0.505												
ITSN2	50618	broad.mit.edu	37	2	24509096	24509097	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:24509095_24509096T>TA	uc002rfe.2	-	15	2106_2107	c.1848_1849A>TA	c.(1846-1851)tttaacfs	p.F616fs	ITSN2_uc002rff.2_Frame_Shift_Ins_p.F616fs|ITSN2_uc002rfg.3_Frame_Shift_Ins_p.F616fs|ITSN2_uc010eyd.2_Frame_Shift_Ins_p.F641fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	616					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTGATTGTTAAAAGAATCCA	0.267												
WBP1	23559	broad.mit.edu	37	2	74687410	74687411	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	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												
ANAPC1	64682	broad.mit.edu	37	2	112614258	112614259	+	Splice_Site	INS	-	-	T	rs4067742		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:112614257_112614258C>CT	uc002thi.3	-	13	1697	c.1450_splice	c.e13-1	p.K484_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	484					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361												
PRPF40A	55660	broad.mit.edu	37	2	153526849	153526850	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:153526848_153526849G>GT	uc002tyh.4	-	14	1548_1549	c.1526_1527C>AC	c.(1525-1527)aacfs	p.N509fs	PRPF40A_uc002tyg.4_5'Flank|PRPF40A_uc010zcd.1_Frame_Shift_Ins_p.N456fs	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	536	FF 2.				RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGTCAAGTATGTTTTTTAAGGC	0.361												
IFIH1	64135	broad.mit.edu	37	2	163134716	163134717	+	Splice_Site	INS	-	-	T	rs150760072		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:163134715_163134716C>CT	uc002uce.3	-	9	1987	c.1765_splice	c.e9+1	p.A589_splice		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	589					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			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTAAATTACCTTTTTTTTCCA	0.327												
LRP2	4036	broad.mit.edu	37	2	169997025	169997026	+	Frame_Shift_Ins	INS	-	-	G	rs80338754		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:169997024_169997025T>TG	uc002ues.3	-	71	13352_13353	c.13139_13140A>CA	c.(13138-13140)ccafs	p.P4380fs		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4380	EGF-like 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGCACCTGCATGGGGGGGGCAG	0.535												
TTN	7273	broad.mit.edu	37	2	179590725	179590725	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:179590724_179590724AT>A	uc021vsy.1	-	66	16818	c.16593_16593AT>T	c.(16591-16593)aatfs	p.N5531fs	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.N2192fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6458	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTTCAGCATTTTTAAGGG	0.408												
ALS2	57679	broad.mit.edu	37	2	202609120	202609120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:202609119_202609119CT>C	uc002uyo.3	-	9	2388	c.2032_2032AG>G	c.(2032-2034)gatfs	p.D678fs	ALS2_uc002uyp.4_Frame_Shift_Del_p.D678fs|ALS2_uc002uyq.3_Frame_Shift_Del_p.D678fs|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	678					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AAATAGCTATCTTTTCCTGCT	0.328												
NOP58	51602	broad.mit.edu	37	2	203165009	203165010	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:203165008_203165009T>TA	uc002uzb.3	+	12	1470_1471	c.1320_1321T>TA	c.(1318-1323)tctaaafs	p.S440fs		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	Homo sapiens NOP58 ribonucleoprotein homolog (yeast) (NOP58), mRNA.	440					cell growth|rRNA processing|snRNP protein import into nucleus	Cajal body|box C/D snoRNP complex|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						CAACCTGTTCTAAAAAACGCAA	0.327												
HDAC4	9759	broad.mit.edu	37	2	240002823	240002823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:240002822_240002822TG>T	uc002vyk.4	-	21	3496	c.2704_2704CA>A	c.(2704-2706)atgfs	p.M902fs	HDAC4_uc010fyy.3_Frame_Shift_Del_p.M859fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	902	Histone deacetylase.				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	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		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)		GCGTCTCCCATGGGGGGGTCC	0.597												
SRGAP3	9901	broad.mit.edu	37	3	9074430	9074431	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:9074429_9074430A>AG	uc003brf.1	-	11	2119_2120	c.1443_1444T>CT	c.(1441-1446)ccctgtfs	p.P481fs	SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	481					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGGGGAAGACAGGGGGGCCTAG	0.441			T	RAF1	pilocytic astrocytoma							
SETD2	29072	broad.mit.edu	37	3	47103755	47103756	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:47103754_47103755G>GTC	uc003cqv.3	-	14	6478_6479	c.6392_6393C>GAC	c.(6391-6393)gacfs	p.D2131fs	SETD2_uc003cqs.3_Frame_Shift_Ins_p.D2064fs|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2064					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCTTGTCTGGGTCTCTCTCTCT	0.485			"""N, F, S, Mis"""		clear cell renal carcinoma							
SMARCC1	6599	broad.mit.edu	37	3	47677559	47677560	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:47677558_47677559A>AT	uc003crq.2	-	22	2562_2563	c.2444_2445T>AT	c.(2443-2445)aatfs	p.N815fs	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Frame_Shift_Ins_p.N706fs	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	815	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CCTTTTCACTATTTTTTTCATT	0.356												
RBM6	10180	broad.mit.edu	37	3	50095230	50095231	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:50095229_50095230G>GA	uc003cyc.3	+	8	2010_2011	c.1762_1763G>GA	c.(1762-1764)gaafs	p.E588fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Frame_Shift_Ins_p.E107fs|RBM6_uc003cyd.3_Frame_Shift_Ins_p.E66fs|RBM6_uc011bdi.2_5'UTR|RBM6_uc003cye.3_Frame_Shift_Ins_p.E66fs|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	588					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGCACCATTGGAAAAACAGCCC	0.465												
SUCLG2	8801	broad.mit.edu	37	3	67570955	67570956	+	Frame_Shift_Ins	INS	-	-	C	rs61756471	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:67570954_67570955G>GC	uc021xae.1	-	4	549_550	c.521_522C>GC	c.(520-522)ggcfs	p.G174fs	SUCLG2_uc010hob.3_Frame_Shift_Ins_p.G55fs|SUCLG2_uc003dna.4_Frame_Shift_Ins_p.G174fs	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	174	ATP-grasp.			GV -> RS (in Ref. 2; AAC64397).	succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CAATGTCGACGCCCCCCTGGGG	0.505												
MYLK	4638	broad.mit.edu	37	3	123457860	123457861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:123457859_123457860T>TC	uc003ego.3	-	6	754_755	c.472_473A>GA	c.(472-474)gagfs	p.E158fs	MYLK_uc011bjw.2_Frame_Shift_Ins_p.E158fs|MYLK_uc003egp.3_Frame_Shift_Ins_p.E158fs|MYLK_uc003egq.3_Frame_Shift_Ins_p.E158fs|MYLK_uc003egr.3_Frame_Shift_Ins_p.E158fs|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Frame_Shift_Ins_p.E158fs	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	158					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.E158fs*79(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGGTGGGCACTCCCCCCAGATG	0.550												
UMPS	7372	broad.mit.edu	37	3	124457071	124457072	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:124457070_124457071G>GA	uc003ehl.4	+	2	1072_1073	c.966_967G>GA	c.(964-969)gtgaaafs	p.V322fs	UMPS_uc011bkb.2_Frame_Shift_Ins_p.V230fs|UMPS_uc003ehn.4_Frame_Shift_Ins_p.V144fs|UMPS_uc003ehm.4_Non-coding_Transcript|UMPS_uc011bka.2_Frame_Shift_Ins_p.V144fs|UMPS_uc011bkc.2_Frame_Shift_Ins_p.V144fs|UMPS_uc011bkd.2_Frame_Shift_Ins_p.V144fs	NM_000373	NP_000364	P11172	UMPS_HUMAN	Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 1, mRNA.	322	OMPdecase.				'de novo' UMP biosynthetic process|'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		GAAACACAGTGAAAAAGCAGTA	0.361												
RAB7A	7879	broad.mit.edu	37	3	128516848	128516849	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:128516847_128516848G>GCC	uc003eks.1	+	2	347_348	c.115_116G>GCC	c.(115-117)gccfs	p.A39fs	RAB7A_uc010hsv.1_Frame_Shift_Ins_p.A39fs	NM_004637	NP_004628	P51149	RAB7A_HUMAN	Homo sapiens RAB7A, member RAS oncogene family (RAB7A), mRNA.	39					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		TCAGTACAAAGCCACAATAGGA	0.441												
C3orf33	285315	broad.mit.edu	37	3	155481463	155481464	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:155481462_155481463T>TA	uc003fam.1	-	4	742_743	c.728_729A>TA	c.(727-729)ttafs	p.L243fs	C3orf33_uc003fal.1_Frame_Shift_Ins_p.L200fs	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	Homo sapiens chromosome 3 open reading frame 33 (C3orf33), mRNA.	200							hydrolase activity, acting on ester bonds|nucleic acid binding	p.R242C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGTTGTTTTTAAAAAACTGTC	0.302												
MECOM	2122	broad.mit.edu	37	3	168833605	168833606	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:168833604_168833605C>CT	uc011bpj.1	-	7	2458_2459	c.2055_2056G>AG	c.(2053-2058)aaagttfs	p.K685fs	MECOM_uc010hwk.1_Frame_Shift_Ins_p.K520fs|MECOM_uc003ffj.3_Frame_Shift_Ins_p.K562fs|MECOM_uc003ffi.3_Frame_Shift_Ins_p.K497fs|MECOM_uc011bpi.1_Frame_Shift_Ins_p.K498fs|MECOM_uc003ffn.3_Frame_Shift_Ins_p.K497fs|MECOM_uc003ffk.2_Frame_Shift_Ins_p.K497fs|MECOM_uc003ffl.2_Frame_Shift_Ins_p.K657fs|MECOM_uc011bpk.1_Frame_Shift_Ins_p.K497fs|MECOM_uc010hwn.2_Frame_Shift_Ins_p.K685fs	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						AAAGCTCCAACTTTTTTGTCTT	0.431												
PRKCI	5584	broad.mit.edu	37	3	169998128	169998129	+	Frame_Shift_Ins	INS	-	-	A	rs150239950		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:169998127_169998128T>TA	uc003fgs.2	+	8	1056_1057	c.818_819T>TA	c.(817-819)ttafs	p.L273fs		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	273	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	p.M273I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTGGTTCGATTAAAAAAAACAG	0.371												
ABLIM2	84448	broad.mit.edu	37	4	8089996	8089996	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:8089995_8089995CG>C	uc003gko.3	-	3	498	c.355_355CG>G	c.(355-357)gggfs	p.G119fs	ABLIM2_uc003gkm.4_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkp.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkq.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkr.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkj.4_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gks.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc011bwl.1_Frame_Shift_Del_p.G124fs	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	119	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACTCGGTCCCCGGGGGGGAAG	0.652												
ZNF518B	85460	broad.mit.edu	37	4	10446553	10446554	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:10446552_10446553A>AT	uc003gmn.3	-	2	1887_1888	c.1400_1401T>AT	c.(1399-1401)aatfs	p.N467fs	ZNF518B_uc021xme.1_Frame_Shift_Ins_p.N467fs	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GATACAAATTATTTTTTTTCTG	0.337												
TBC1D1	23216	broad.mit.edu	37	4	38134766	38134768	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:38134765_38134767CAAG>C	uc003gtb.3	+	18	3551_3553	c.3193_3195CAAG>C	c.(3193-3195)caa>C	p.Q1065del	TBC1D1_uc011byd.2_In_Frame_Del_p.Q1056del|TBC1D1_uc010ifd.3_In_Frame_Del_p.Q852del|TBC1D1_uc021xnh.1_In_Frame_Del_p.Q162del|TBC1D1_uc021xni.1_In_Frame_Del_p.Q162del|TBC1D1_uc003gtd.3_In_Frame_Del_p.Q77del	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	1065						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCACGTCCTTCAAGAAGAACTTA	0.389												
LIAS	11019	broad.mit.edu	37	4	39462464	39462465	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:39462463_39462464T>TA	uc003guf.3	+	1	172_173	c.99_100T>TA	c.(97-102)gataaafs	p.D33fs	RPL9_uc003gub.3_5'Flank|RPL9_uc003guc.3_5'Flank|RPL9_uc011byk.2_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.4_Frame_Shift_Ins_p.D33fs|LIAS_uc011bym.2_Frame_Shift_Ins_p.D33fs|LIAS_uc003gug.3_Frame_Shift_Ins_p.D33fs	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	p.K36fs*31(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CCTTGCCAGATAAAAAAAAGGA	0.391												
LARP7	51574	broad.mit.edu	37	4	113567545	113567546	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:113567544_113567545G>GA	uc003iaz.3	+	4	726_727	c.261_262G>GA	c.(259-264)atgaaafs	p.M87fs	LARP7_uc003iay.3_Frame_Shift_Ins_p.M80fs|LARP7_uc003iba.3_Frame_Shift_Ins_p.M1fs|LARP7_uc003ibb.3_Frame_Shift_Ins_p.M80fs	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA.	80	HTH La-type RNA-binding.				RNA processing	nucleoplasm|ribonucleoprotein complex	RNA binding|nucleotide binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTAACAAAATGAAAAAATTGAC	0.287												
TRAM1L1	133022	broad.mit.edu	37	4	118005517	118005517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:118005516_118005516CT>C	uc003ibv.4	-	0	1221	c.1034_1034AG>G	c.(1033-1035)agafs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388												
HEATR7B2	133558	broad.mit.edu	37	5	40999840	40999841	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:40999839_40999840A>AGT	uc003jmj.4	-	39	5014_5015	c.4524_4525T>ACT	c.(4522-4527)cactccfs	p.H1508fs	HEATR7B2_uc003jmi.4_Frame_Shift_Ins_p.H1063fs	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1508							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AAGGTGAAGGAGTGTGTGTGGA	0.475												
CSNK1G3	1456	broad.mit.edu	37	5	122926144	122926145	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:122926143_122926144A>AT	uc003ktm.3	+	8	1600_1601	c.881_882A>AT	c.(880-882)gatfs	p.D294fs	CSNK1G3_uc003ktl.3_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc003ktn.3_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc003kto.3_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc011cwr.2_Frame_Shift_Ins_p.D219fs|CSNK1G3_uc011cws.2_Frame_Shift_Ins_p.D182fs|CSNK1G3_uc010jda.3_Frame_Shift_Ins_p.D295fs	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	294	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.D294A(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AGAAGGCTAGATTTTTTTGAAA	0.262												
SPINK7	84651	broad.mit.edu	37	5	147692956	147692956	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:147692955_147692955CA>C	uc003lpd.3	+	1	137	c.80_80CA>C	c.(79-81)ccafs	p.P27fs	AK054753_uc003lpb.1_Intron	NM_032566	NP_115955	P58062	ISK7_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 7 (putative) (SPINK7), mRNA.	27	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTGTCTCCAAAAAAAGTA	0.274												
C6orf89	221477	broad.mit.edu	37	6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431												
SLC2A12	154091	broad.mit.edu	37	6	134350099	134350099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:134350098_134350098CA>C	uc003qem.1	-	1	1036	c.865_865TG>G	c.(865-867)gtafs	p.V289fs		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	289						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTGATTTGTACAAAAAATACT	0.408												
AHI1	54806	broad.mit.edu	37	6	135784284	135784285	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:135784283_135784284G>GT	uc003qgi.3	-	7	1294_1295	c.910_911C>AC	c.(910-912)acafs	p.T304fs	AHI1_uc003qgh.3_Frame_Shift_Ins_p.T304fs|AHI1_uc003qgj.3_Frame_Shift_Ins_p.T304fs|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Frame_Shift_Ins_p.T304fs	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	304						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307												
NOX3	50508	broad.mit.edu	37	6	155757643	155757644	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:155757642_155757643C>CAG	uc003qqm.3	-	6	810_811	c.707_708G>CTG	c.(706-708)ctgfs	p.L236fs		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	236	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGATGTTGTGCAGAGAGAGACT	0.446												
POLM	27434	broad.mit.edu	37	7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:44120413_44120413TG>T	uc003tjt.3	-	1	383	c.291_291CA>A	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGC	0.637								DNA polymerases (catalytic subunits)				
ABCA13	154664	broad.mit.edu	37	7	48314550	48314550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:48314549_48314549TA>T	uc003toq.2	+	16	5310	c.5286_5286TA>T	c.(5284-5286)ggtfs	p.G1762fs	ABCA13_uc010kyr.2_Frame_Shift_Del_p.G1265fs|ABCA13_uc022acp.1_Frame_Shift_Del_p.G261fs	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1762					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGTACCTGGTAAAAACATCA	0.448												
CRCP	27297	broad.mit.edu	37	7	65599284	65599284	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:65599283_65599283CA>C	uc003tus.3	+	3	306	c.161_161CA>C	c.(160-162)tcafs	p.S54fs	CRCP_uc003tuv.3_Non-coding_Transcript|CRCP_uc011kdw.2_Frame_Shift_Del_p.S47fs|CRCP_uc003tut.3_Frame_Shift_Del_p.S21fs|CRCP_uc003tuu.3_Intron	NM_014478	NP_055293	O75575	RPC9_HUMAN	Homo sapiens CGRP receptor component (CRCP), transcript variant 1, mRNA.	54					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	DNA-directed RNA polymerase activity|calcitonin receptor activity|nucleotide binding			cervix(1)|kidney(1)|lung(4)	6						AAATACATATCAAAAACACCA	0.348												
NSUN5	55695	broad.mit.edu	37	7	72722449	72722451	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:72722448_72722450GCTT>G	uc003txw.3	-	1	271_273	c.194_196AAGC>C	c.(193-198)aagctg>aCtg	p.65_66KL>T	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_In_Frame_Del_p.65_66KL>T|NSUN5_uc003txv.3_In_Frame_Del_p.65_66KL>T|NSUN5_uc003txx.3_In_Frame_Del_p.65_66KL>T	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	65							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGCGGCCGCAGCTTCTTCTCCGC	0.660												
CBLL1	79872	broad.mit.edu	37	7	107395909	107395909	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:107395908_107395908GA>G	uc003veq.3	+	4	742	c.412_412GA>G	c.(412-414)gaafs	p.E138fs	CBLL1_uc011kme.2_Frame_Shift_Del_p.E17fs|CBLL1_uc011kmf.2_Frame_Shift_Del_p.E137fs	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	138					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TATTTTACATGAAAAAAAGGG	0.264												
PNPLA8	50640	broad.mit.edu	37	7	108155904	108155907	+	Frame_Shift_Del	DEL	ATAT	ATAT	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:108155903_108155906AATAT>A	uc003vff.1	-	3	437_440	c.30_33ATATT>T	c.(28-33)tatattfs	p.Y10fs	PNPLA8_uc003vfi.1_Intron|PNPLA8_uc003vfh.1_Frame_Shift_Del_p.Y10fs|PNPLA8_uc003vfj.1_Frame_Shift_Del_p.Y10fs|PNPLA8_uc003vfk.1_Intron	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	10					fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TAAGGAGGTAAATATATATATCTA	0.333												
MTPN	136319	broad.mit.edu	37	7	135636280	135636281	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:135636279_135636280C>CT	uc003vte.4	-	1	527_528	c.171_172G>AG	c.(169-174)aaaggafs	p.K57fs	MTPN_uc010lmv.3_Intron	NM_145808	NP_665807	P58546	MTPN_HUMAN	Homo sapiens myotrophin (MTPN), mRNA.	57					cell growth|regulation of striated muscle tissue development|regulation of translation	cytoplasm	protein binding			endometrium(1)|lung(4)|prostate(1)	6						ATATCTGCTCCTTTCAGCAGCA	0.376												
NOS3	4846	broad.mit.edu	37	7	150698398	150698398	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:150698397_150698397AG>A	uc003wif.3	+	10	1608	c.1312_1312AG>A	c.(1312-1314)aggfs	p.R438fs	NOS3_uc011kuy.2_Frame_Shift_Del_p.R232fs|NOS3_uc011kva.2_Frame_Shift_Del_p.R438fs|NOS3_uc011kuz.2_Frame_Shift_Del_p.R438fs|NOS3_uc011kvb.2_Frame_Shift_Del_p.R438fs	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	438	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCAGAAGGCCAGGGGGGGCTG	0.612												
RNF32	140545	broad.mit.edu	37	7	156451257	156451258	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:156451256_156451257G>GA	uc003wmo.3	+	6	906_907	c.676_677G>GA	c.(676-678)gaafs	p.E226fs	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Frame_Shift_Ins_p.E226fs|RNF32_uc003wmq.3_Frame_Shift_Ins_p.E226fs|RNF32_uc003wmr.3_Frame_Shift_Ins_p.E226fs|RNF32_uc003wms.3_Frame_Shift_Ins_p.E226fs|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Frame_Shift_Ins_p.E226fs	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	226						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAAATTCTTTGAAAAAAAGGTA	0.426												
SFTPC	6440	broad.mit.edu	37	8	22021060	22021061	+	Splice_Site	INS	-	-	GT	rs149538549	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:22021059_22021060G>GGT	uc003xaw.4	+	7	1285	c.582_splice	c.e7+1	p.Q194_splice	SFTPC_uc003xax.4_Splice_Site_p.Q145_splice|SFTPC_uc003xay.4_Splice_Site_p.Q145_splice|SFTPC_uc003xaz.3_Splice_Site_p.Q145_splice|SFTPC_uc011kza.1_Intron|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	145	BRICHOS.				respiratory gaseous exchange	extracellular space		p.M146fs*41(1)		autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACAACTTCCAGGTGTGTGTGTG	0.545												
CA2	760	broad.mit.edu	37	8	86386635	86386635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:86386634_86386634AT>A	uc003ydk.2	+	3	613	c.433_433AT>A	c.(433-435)attfs	p.I145fs		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	145					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CGTTCTAGGTATTTTTTTGAA	0.388												
UBR5	51366	broad.mit.edu	37	8	103309837	103309837	+	Splice_Site	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:103309836_103309836TA>T	uc003ykr.2	-	27	3880	c.3425_splice	c.e27-1	p.A1142_splice	UBR5_uc003yks.2_Splice_Site_p.A1142_splice	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1142					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATATTTCAGCTAAAAAAGTAA	0.363												
LRP12	29967	broad.mit.edu	37	8	105509440	105509441	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:105509439_105509440G>GT	uc003yma.3	-	4	1467_1468	c.1340_1341C>AC	c.(1339-1341)aacfs	p.N447fs	LRP12_uc003ymb.3_Frame_Shift_Ins_p.N428fs|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	447	LDL-receptor class A 4.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAAAAGCAGTTTTTTTCATC	0.421												
CSMD3	114788	broad.mit.edu	37	8	113662425	113662426	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:113662424_113662425G>GT	uc003ynu.3	-	18	3317_3318	c.3158_3159C>AC	c.(3157-3159)aacfs	p.N1053fs	CSMD3_uc003yns.3_Frame_Shift_Ins_p.N325fs|CSMD3_uc003ynt.3_Frame_Shift_Ins_p.N1013fs|CSMD3_uc011lhx.2_Frame_Shift_Ins_p.N949fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1053	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCACCAGTGGTTTTTTTCGCA	0.376										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
ENPP2	5168	broad.mit.edu	37	8	120638944	120638944	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:120638943_120638943AG>A	uc003yos.2	-	2	240	c.154_154CT>T	c.(154-156)tggfs	p.W52fs	ENPP2_uc010mdd.2_Frame_Shift_Del_p.W52fs|ENPP2_uc003yot.2_Frame_Shift_Del_p.W52fs	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	52					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.W52C(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGTTGGTCCAGGGGGAGTCT	0.517												
SLC45A4	57210	broad.mit.edu	37	8	142228274	142228274	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:142228273_142228273TC>T	uc003ywd.1	-	3	1621	c.1313_1313GA>A	c.(1312-1314)gagfs	p.E438fs	SLC45A4_uc003ywc.1_Frame_Shift_Del_p.E438fs|SLC45A4_uc010meq.1_Frame_Shift_Del_p.E436fs	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	489					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	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)			GGTCTCGCCCTCCCCCTCCTC	0.672												
OPLAH	26873	broad.mit.edu	37	8	145109749	145109749	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:145109748_145109748GC>G	uc003zar.3	-	17	2560	c.2478_2478GC>C	c.(2476-2478)ggcfs	p.G826fs	OPLAH_uc003zas.1_Frame_Shift_Del_p.G75fs	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	826							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCAGGTGGCTGCCCCCGGCAC	0.657												
ZNF7	7553	broad.mit.edu	37	8	146067178	146067179	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:146067177_146067178C>CA	uc010mge.3	+	4	855_856	c.718_719C>CA	c.(718-720)caafs	p.Q240fs	ZNF7_uc003zeg.4_Frame_Shift_Ins_p.Q229fs|ZNF7_uc011lln.2_Frame_Shift_Ins_p.Q133fs|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Frame_Shift_Ins_p.Q133fs|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	229					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TCAAGAATGCCAAAAAAAGTTA	0.455												
TYRP1	7306	broad.mit.edu	37	9	12708068	12708069	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:12708067_12708068G>GC	uc003zkv.4	+	6	1510_1511	c.1332_1333G>GC	c.(1330-1335)tggcccfs	p.W444fs		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	444					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TGCCATTCTGGCCCCCAGTCAC	0.376									Oculocutaneous Albinism			
TAF1L	138474	broad.mit.edu	37	9	32633025	32633025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:32633024_32633024CT>C	uc003zrg.1	-	0	2644	c.2554_2554AG>G	c.(2554-2556)gccfs	p.A852fs	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	852					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.A852fs*14(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAAGGAAAGGCTTTTTTTATA	0.443												
C9orf131	138724	broad.mit.edu	37	9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCC	0.527												
PTPDC1	138639	broad.mit.edu	37	9	96864017	96864018	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:96864016_96864017C>CT	uc010mrj.2	+	6	2284_2285	c.2182_2183C>CT	c.(2182-2184)cttfs	p.L728fs	PTPDC1_uc004auf.2_Frame_Shift_Ins_p.L674fs|PTPDC1_uc004aug.2_Frame_Shift_Ins_p.L669fs|PTPDC1_uc004auh.2_Frame_Shift_Ins_p.L726fs	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	674							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CGCAGAAGCACTTTTTTTATTA	0.426												
C9orf84	158401	broad.mit.edu	37	9	114449052	114449052	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:114449051_114449051CA>C	uc004bfr.3	-	25	4469	c.4334_4334TG>G	c.(4333-4335)tgafs	p.*1445fs	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Frame_Shift_Del_p.*1406fs|C9orf84_uc010mug.3_Frame_Shift_Del_p.*1356fs	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	0										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTCCTCCTTCAAAAAAACCT	0.393												
DAB2IP	153090	broad.mit.edu	37	9	124536637	124536638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:124536636_124536637A>AC	uc004bln.3	+	12	3050_3051	c.2981_2982A>AC	c.(2980-2982)gacfs	p.D994fs	DAB2IP_uc004blo.3_Frame_Shift_Ins_p.D898fs|DAB2IP_uc004blp.3_Frame_Shift_Ins_p.D427fs	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	1022					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGGGCCCAGACCCCCCCCACA	0.634												
LHX6	26468	broad.mit.edu	37	9	124971944	124971944	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:124971943_124971943CG>C	uc004blx.4	-	8	1180	c.1108_1108CG>G	c.(1108-1110)gtcfs	p.V370fs	LHX6_uc022bmw.1_Frame_Shift_Del_p.V154fs|LHX6_uc010mvw.3_Frame_Shift_Del_p.V341fs|LHX6_uc022bmx.1_Intron|LHX6_uc004bly.4_Intron	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	341					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						ttgaggtggacggggggtgcg	0.637												
FAM171A1	221061	broad.mit.edu	37	10	15262985	15262986	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:15262984_15262985T>TG	uc001iob.3	-	5	836_837	c.829_830A>CA	c.(829-831)cagfs	p.Q277fs		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	277						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTACCCCAACTGGGGGGCAATG	0.564												
DDX50	79009	broad.mit.edu	37	10	70706231	70706239	+	In_Frame_Del	DEL	TCAGGCCGG	TCAGGCCGG	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:70706230_70706238ATCAGGCCGG>A	uc001jou.3	+	14	2165_2173	c.2058_2066ATCAGGCCGG>A	c.(2056-2067)cgatcaggccgg>cgAg	p.686_689RSGR>R		NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	686	Arg-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	p.R686*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CAAGTGGTCGATCAGGCCGGTCAGGCCGG	0.517												
SEC24C	9632	broad.mit.edu	37	10	75525560	75525560	+	Splice_Site	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:75525559_75525559TC>T	uc001juw.3	+	11	1547	c.1367_splice	c.e11-1	p.V456_splice	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Splice_Site_p.V314_splice|SEC24C_uc001jux.3_Splice_Site_p.V456_splice|SEC24C_uc010qko.2_Splice_Site_p.V337_splice|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.	456					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)					TTCCCACAGTTCCCCCCCAGT	0.512												
KIAA1598	57698	broad.mit.edu	37	10	118661342	118661343	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:118661341_118661342T>TG	uc021pzk.1	-	15	2105_2106	c.1607_1608A>CA	c.(1606-1608)ccafs	p.P536fs	KIAA1598_uc009xyw.3_Frame_Shift_Ins_p.P536fs|KIAA1598_uc001lcz.4_Intron|KIAA1598_uc010qso.2_Frame_Shift_Ins_p.P476fs|KIAA1598_uc010qsp.1_Frame_Shift_Ins_p.P536fs|KIAA1598_uc010qsq.1_Frame_Shift_Ins_p.P476fs|KIAA1598_uc001lcy.4_Frame_Shift_Ins_p.P506fs	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	536					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTCAGGTGTTGGGGGGGACGG	0.475												
C10orf88	80007	broad.mit.edu	37	10	124711510	124711511	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:124711509_124711510A>AT	uc001lgw.2	-	2	626_627	c.401_402T>AT	c.(400-402)aatfs	p.N134fs	C10orf88_uc001lgx.2_Frame_Shift_Ins_p.N36fs	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	134								p.N134fs*2(2)		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)		CCAATTTTAGATTTTTTTTATA	0.243												
ILK	3611	broad.mit.edu	37	11	6629392	6629392	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6629391_6629391AC>A	uc001mee.3	+	2	340	c.205_205AC>A	c.(205-207)accfs	p.T69fs	ILK_uc001mef.3_Frame_Shift_Del_p.T69fs|ILK_uc010rap.2_Intron|ILK_uc010raq.2_Frame_Shift_Del_p.T69fs|ILK_uc001meh.3_Frame_Shift_Del_p.T69fs	NM_001014794	NP_004508	Q13418	ILK_HUMAN	Homo sapiens integrin-linked kinase (ILK), transcript variant 2, mRNA.	69	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TGGGGATGACACCCCCCTGCA	0.562												
DCHS1	8642	broad.mit.edu	37	11	6654125	6654126	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6654124_6654125T>TG	uc001mem.1	-	5	3019_3020	c.2618_2619A>CA	c.(2617-2619)ccafs	p.P873fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	873	Cadherin 8.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCGAAAGCTGGGGGCACTCC	0.579												
TMEM41B	440026	broad.mit.edu	37	11	9308018	9308018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:9308017_9308017TA>T	uc001mhm.3	-	5	1018	c.691_691TA>A	c.(691-693)attfs	p.I231fs	TMEM41B_uc001mhn.2_Frame_Shift_Del_p.I231fs	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	231						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		AAAGTACCAATAAAAAAAACT	0.363												
C11orf41	25758	broad.mit.edu	37	11	33628318	33628319	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:33628317_33628318G>GC	uc021qfs.1	+	12	4243_4244	c.4119_4120G>GC	c.(4117-4122)gtgcccfs	p.V1373fs		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1373						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TCCCCATGGTGCCCCCCACCTC	0.589												
OR5T3	390154	broad.mit.edu	37	11	56019847	56019848	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:56019846_56019847A>AT	uc010rjd.2	+	0	171_172	c.171_172A>AT	c.(169-174)ctatttfs	p.L57fs		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAGTCTTCCTATTTTTACTATT	0.391												
CDC42BPG	55561	broad.mit.edu	37	11	64591974	64591974	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:64591973_64591973AG>A	uc001obs.4	-	36	4628	c.4628_4628CT>T	c.(4627-4629)ctafs	p.L1543fs		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1543					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TTCAGGGGATAGGGGGAGGCT	0.562												
RELA	5970	broad.mit.edu	37	11	65422046	65422046	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:65422045_65422045TG>T	uc010ron.2	-	10	1633	c.1493_1493CA>A	c.(1492-1494)cacfs	p.H498fs	RELA_uc001off.3_Intron|RELA_uc001ofh.3_Frame_Shift_Del_p.H484fs|RELA_uc001ofg.3_Frame_Shift_Del_p.H487fs|RELA_uc021qlq.1_Frame_Shift_Del_p.H418fs|RELA_uc009yqr.3_Frame_Shift_Del_p.H434fs|RELA_uc001ofe.2_3'UTR	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	487					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	p.E498K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCAGTTGTGTGGGGGGCCAC	0.622												
KBTBD3	143879	broad.mit.edu	37	11	105923985	105923985	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:105923984_105923984TA>T	uc001pja.3	-	3	2072	c.1432_1432TA>A	c.(1432-1434)aaafs	p.K478fs	KBTBD3_uc001pjb.3_Frame_Shift_Del_p.K478fs|KBTBD3_uc009yxm.3_Frame_Shift_Del_p.K399fs	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	474										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GCATTGTATTTAAAAAAGCAA	0.353												
ARHGAP20	57569	broad.mit.edu	37	11	110450446	110450446	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:110450445_110450445TG>T	uc001pkz.1	-	15	3510	c.3225_3225CA>A	c.(3223-3225)ccafs	p.P1075fs	ARHGAP20_uc001pky.1_Frame_Shift_Del_p.P1052fs|ARHGAP20_uc009yyb.1_Frame_Shift_Del_p.P1039fs|ARHGAP20_uc001pla.1_Frame_Shift_Del_p.P1039fs|ARHGAP20_uc001plb.2_Frame_Shift_Del_p.P618fs	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	1075					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CAGAAGCATGTGGGGGTGGCT	0.502												
MCAM	4162	broad.mit.edu	37	11	119182355	119182356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:119182354_119182355A>AG	uc001pwf.3	-	10	1321_1322	c.1292_1293T>CT	c.(1291-1293)cctfs	p.P431fs	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	431	Ig-like C2-type 3.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATGCCATCCAAGGGGGGCCTTG	0.609												
EMG1	10436	broad.mit.edu	37	12	7084958	7084959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:7084957_7084958T>TG	uc001qsh.4	+	6	861_862	c.718_719T>TG	c.(718-720)tggfs	p.W240fs	EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Intron	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	241					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TGAGGAAGTATGGGGGGTCATT	0.475												
TAS2R10	50839	broad.mit.edu	37	12	10978282	10978282	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:10978281_10978281TA>T	uc001qyy.1	-	0	588	c.588_588TA>A	c.(586-588)ttafs	p.L196fs		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	196					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATAC	0.343												
ZCRB1	85437	broad.mit.edu	37	12	42706971	42706972	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:42706970_42706971A>AT	uc001rmz.3	-	7	761_762	c.552_553T>AT	c.(550-555)aaatggfs	p.K184fs		NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN	Homo sapiens zinc finger CCHC-type and RNA binding motif 1 (ZCRB1), mRNA.	184					mRNA processing	U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		CTGGGTTTCCATTTTTTTTGTT	0.327												
COL2A1	1280	broad.mit.edu	37	12	48391483	48391484	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:48391482_48391483A>AG	uc001rqu.3	-	6	618_619	c.437_438T>CT	c.(436-438)cctfs	p.P146fs	COL2A1_uc001rqv.3_Frame_Shift_Ins_p.P77fs	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	146					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			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CACGAGGTCCAGGGGCACCCTT	0.589												
LARP4	113251	broad.mit.edu	37	12	50848191	50848192	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:50848190_50848191C>CA	uc001rwp.2	+	9	1313_1314	c.1111_1112C>CA	c.(1111-1113)caafs	p.Q371fs	LARP4_uc001rwq.2_Frame_Shift_Ins_p.Q300fs|LARP4_uc001rwt.2_Frame_Shift_Ins_p.Q300fs|LARP4_uc001rws.2_Frame_Shift_Ins_p.Q370fs|LARP4_uc001rwr.2_Frame_Shift_Ins_p.Q371fs|LARP4_uc021qxv.1_Frame_Shift_Ins_p.Q301fs|LARP4_uc009zlr.1_Frame_Shift_Ins_p.Q190fs|LARP4_uc001rwm.3_Frame_Shift_Ins_p.Q371fs|LARP4_uc001rwn.3_Frame_Shift_Ins_p.Q301fs	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	371							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TCGACCATTCCAAAAAAATCGG	0.356												
B4GALNT1	2583	broad.mit.edu	37	12	58025103	58025104	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:58025102_58025103G>GC	uc001spg.1	-	2	695_696	c.263_264C>GC	c.(262-264)ggcfs	p.G88fs	B4GALNT1_uc010sru.2_Intron|B4GALNT1_uc010srv.2_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc001spi.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc010srw.1_Frame_Shift_Ins_p.G165fs	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589												
LRIG3	121227	broad.mit.edu	37	12	59281569	59281588	+	Splice_Site	DEL	ACAAAGTCTTTAAACTGGAA	ACAAAGTCTTTAAACTGGAA	-	rs148886133		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:59281568_59281587TACAAAGTCTTTAAACTGGAA>T	uc001sqr.3	-	8	1337	c.1091_splice	c.e8+1	p.L364_splice	LRIG3_uc009zqh.3_Splice_Site_p.L304_splice|LRIG3_uc010ssh.2_Splice_Site	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	364						integral to membrane		p.K362N(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACGTGTAACTTACAAAGTCTTTAAACTGGAAAGCCCCCGG	0.418			T	ROS1	NSCLC							
TRPV4	59341	broad.mit.edu	37	12	110221458	110221459	+	Frame_Shift_Ins	INS	-	-	G	rs149267166		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:110221457_110221458C>CG	uc001tpj.2	-	14	2679_2680	c.2584_2585G>CG	c.(2584-2586)cgcfs	p.R862fs	TRPV4_uc001tpg.2_Frame_Shift_Ins_p.R828fs|TRPV4_uc021rdp.1_Frame_Shift_Ins_p.R802fs|TRPV4_uc001tph.2_Frame_Shift_Ins_p.R815fs|TRPV4_uc001tpi.2_Frame_Shift_Ins_p.R755fs|TRPV4_uc001tpk.2_Frame_Shift_Ins_p.R862fs	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	862					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTCCACTTGCGGGGGTAACCC	0.624												
NAA25	80018	broad.mit.edu	37	12	112485490	112485491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:112485489_112485490G>GA	uc001ttm.3	-	16	2043_2044	c.1985_1986C>TC	c.(1984-1986)ttcfs	p.F662fs	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Frame_Shift_Ins_p.F634fs|NAA25_uc009zwa.2_Frame_Shift_Ins_p.F662fs	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	662						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GATCCCAGCTGAAAAAAACATT	0.351												
PLBD2	196463	broad.mit.edu	37	12	113825652	113825653	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:113825651_113825652C>CA	uc001tve.2	+	10	1577_1578	c.1542_1543C>CA	c.(1540-1545)gccaatfs	p.A514fs	PLBD2_uc001tvf.2_Frame_Shift_Ins_p.A482fs	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	514					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCAACCCGGCCAATGGCTCCTA	0.624												
RBM19	9904	broad.mit.edu	37	12	114395612	114395612	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:114395611_114395611CT>C	uc009zwi.2	-	5	960	c.816_816AG>G	c.(814-816)aagfs	p.K272fs	RBM19_uc001tvn.4_Frame_Shift_Del_p.K272fs|RBM19_uc001tvm.3_Frame_Shift_Del_p.K272fs	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	272					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCGGTGGTCTCTTTTTCCCAG	0.632												
LRRC43	254050	broad.mit.edu	37	12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:122685345_122685345AC>A	uc009zxm.3	+	9	1698	c.1673_1673AC>A	c.(1672-1674)gacfs	p.D558fs	LRRC43_uc001ubw.4_Frame_Shift_Del_p.D373fs|LRRC43_uc009zxn.3_Frame_Shift_Del_p.D319fs|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	558										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCCGGCAGGACCCCCCCATC	0.667												
WASF3	10810	broad.mit.edu	37	13	27255387	27255388	+	Frame_Shift_Ins	INS	-	-	C	rs141429361		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:27255386_27255387G>GC	uc001uqv.3	+	7	1137_1138	c.912_913G>GC	c.(910-915)ccgcccfs	p.P304fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.P301fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	304	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCAGCAGCCGCCCCCCCCGCC	0.678												
TSC22D1	8848	broad.mit.edu	37	13	45150005	45150006	+	Frame_Shift_Ins	INS	-	-	G	rs145475008		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:45150004_45150005A>AG	uc001uzn.4	-	0	697_698	c.206_207T>CT	c.(205-207)cctfs	p.P69fs	TSC22D1_uc001uzo.2_Frame_Shift_Ins_p.P69fs|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	69	Pro-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AAGATGCTGCAGGGGGCGGCGG	0.634												
NFATC4	4776	broad.mit.edu	37	14	24839091	24839092	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:24839090_24839091T>TG	uc001wpc.3	+	1	807_808	c.486_487T>TG	c.(484-489)ggtgggfs	p.G162fs	NFATC4_uc010alr.3_Frame_Shift_Ins_p.G225fs|NFATC4_uc010tok.2_Frame_Shift_Ins_p.G225fs|NFATC4_uc010tol.2_Frame_Shift_Ins_p.G225fs|NFATC4_uc010als.2_Frame_Shift_Ins_p.G175fs|NFATC4_uc010too.2_Frame_Shift_Ins_p.G175fs|NFATC4_uc010tom.2_Frame_Shift_Ins_p.G175fs|NFATC4_uc010ton.2_Frame_Shift_Ins_p.G175fs|NFATC4_uc010toq.2_Frame_Shift_Ins_p.G194fs|NFATC4_uc010alt.3_Frame_Shift_Ins_p.G194fs|NFATC4_uc010top.2_Frame_Shift_Ins_p.G194fs|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Frame_Shift_Ins_p.G162fs|NFATC4_uc010tos.2_Frame_Shift_Ins_p.G92fs|NFATC4_uc010tot.2_Frame_Shift_Ins_p.G150fs|NFATC4_uc010tou.2_Frame_Shift_Ins_p.G92fs|NFATC4_uc010tov.2_Frame_Shift_Ins_p.G150fs|NFATC4_uc010tow.2_Frame_Shift_Ins_p.G92fs|NFATC4_uc010alv.3_Frame_Shift_Ins_p.G150fs|NFATC4_uc010tox.2_Frame_Shift_Ins_p.G92fs|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	162	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.A165fs*23(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GGGGCCAGGGTGGGGGGGCCTT	0.649												
LGALS3	3958	broad.mit.edu	37	14	55605003	55605004	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:55605002_55605003T>TG	uc001xbr.3	+	2	346_347	c.258_259T>TG	c.(256-261)cctgggfs	p.P86fs	LGALS3_uc021rtj.1_Frame_Shift_Ins_p.P86fs	NM_002306	NP_002297	P17931	LEG3_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 (LGALS3), transcript variant 1, mRNA.	86	8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.				RNA splicing|cell differentiation|innate immune response|mRNA processing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding	p.G85S(1)		central_nervous_system(1)|endometrium(1)|prostate(1)	3						CCAGCGGCCCTGGGGCCTACCC	0.658												
PCNX	22990	broad.mit.edu	37	14	71444749	71444750	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:71444748_71444749G>GA	uc001xmo.2	+	5	2140_2141	c.1694_1695G>GA	c.(1693-1695)ggafs	p.G565fs	PCNX_uc001xmn.4_Frame_Shift_Ins_p.G565fs|PCNX_uc010are.1_Frame_Shift_Ins_p.G565fs	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	565						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			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)		AGACGCACAGGAAAAAAACGGG	0.475												
AK7	122481	broad.mit.edu	37	14	96875211	96875212	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:96875210_96875211G>GA	uc001yfn.2	+	3	474_475	c.430_431G>GA	c.(430-432)gaafs	p.E144fs		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	144					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAGCCACTTTGAAAAGCGAAAG	0.460												
TRPM1	4308	broad.mit.edu	37	15	31294936	31294937	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:31294935_31294936G>GT	uc021sia.1	-	26	4332_4333	c.4018_4019C>AC	c.(4018-4020)accfs	p.T1340fs	TRPM1_uc010azy.3_Frame_Shift_Ins_p.T1208fs|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Frame_Shift_Ins_p.T1323fs|TRPM1_uc001zfm.3_Frame_Shift_Ins_p.T1301fs	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1301					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAAGGAACAGGTTTTTTTCCTG	0.446												
THBS1	7057	broad.mit.edu	37	15	39875817	39875818	+	Splice_Site	INS	-	-	G	rs112381547		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:39875816_39875817A>AG	uc001zkh.3	+	4	807	c.628_splice	c.e4-1	p.G210_splice		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	210	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTCTGCCCACAGGGGGTGCTGC	0.510											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UBR1	197131	broad.mit.edu	37	15	43252855	43252856	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:43252854_43252855G>GT	uc001zqq.3	-	42	4811_4812	c.4745_4746C>AC	c.(4744-4746)aacfs	p.N1582fs		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1582					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGACCACGGTGTTTTTTTGCTT	0.401												
SPG11	80208	broad.mit.edu	37	15	44900713	44900713	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:44900712_44900712GT>G	uc001ztx.3	-	18	3414	c.3383_3383AC>C	c.(3382-3384)actfs	p.T1128fs	SPG11_uc010ueh.2_Frame_Shift_Del_p.T1128fs|SPG11_uc010uei.2_Frame_Shift_Del_p.T1128fs	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1128					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GAAGAGAGCAGTTTTTAGCTT	0.403												
AP4E1	23431	broad.mit.edu	37	15	51221321	51221322	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:51221320_51221321T>TG	uc001zyx.2	+	5	764_765	c.657_658T>TG	c.(655-660)gttgggfs	p.V219fs	AP4E1_uc021skz.1_Frame_Shift_Ins_p.V144fs|AP4E1_uc010ufi.2_Frame_Shift_Ins_p.V219fs|AP4E1_uc010ufj.2_Non-coding_Transcript|AP4E1_uc010ufk.2_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	219					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACAGAGATGTTGGGGTCATGGC	0.342												
MYO5A	4644	broad.mit.edu	37	15	52680071	52680072	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:52680070_52680071CTT>C	uc002aby.2	-	13	1951_1952	c.1707_1708AAG>G	c.(1705-1710)aaagacfs	p.K569fs	MYO5A_uc002abx.3_Frame_Shift_Del_p.K569fs|MYO5A_uc010uge.1_Frame_Shift_Del_p.K438fs	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	569	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAAACGGTGTCTTTATTCTTTT	0.317												
ATP2A1	487	broad.mit.edu	37	16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:28913639_28913640G>GC	uc002dro.1	+	16	2640_2641	c.2456_2457G>GC	c.(2455-2457)cgcfs	p.R819fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	819					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCATGGACCGCCCCCCCCGGA	0.658												
NUP93	9688	broad.mit.edu	37	16	56872937	56872937	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:56872936_56872936CT>C	uc002eka.3	+	18	2212	c.2091_2091CT>C	c.(2089-2091)accfs	p.T697fs	NUP93_uc002ekb.3_Frame_Shift_Del_p.T574fs|NUP93_uc010vhi.2_Frame_Shift_Del_p.T574fs	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	697					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACTTGATCACCTTTTTTGACG	0.403												
CTCF	10664	broad.mit.edu	37	16	67645339	67645340	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:67645338_67645339C>CA	uc002etl.3	+	2	1047_1048	c.603_604C>CA	c.(601-606)gccaaafs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					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)		AGCCACCAGCCAAAAAAACAAA	0.475												
USP10	9100	broad.mit.edu	37	16	84806175	84806176	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:84806174_84806175G>GA	uc010voe.2	+	12	2289_2290	c.2038_2039G>GA	c.(2038-2040)gaafs	p.E680fs	USP10_uc002fii.3_Frame_Shift_Ins_p.E676fs|USP10_uc010vof.2_Frame_Shift_Ins_p.E238fs|USP10_uc002fij.3_Frame_Shift_Ins_p.E202fs	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	676					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGTGACTCTGGAAAAACTCCCT	0.475												
KIAA0182	23199	broad.mit.edu	37	16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	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												
C16orf7	9605	broad.mit.edu	37	16	89778933	89778934	+	Splice_Site	INS	-	-	G	rs143123169	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:89778932_89778933T>TG	uc002fom.1	-	6	669	c.544_splice	c.e6-1	p.T182_splice	C16orf7_uc002fol.1_Splice_Site_p.T112_splice|LOC100128881_uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	182					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAGAGGGTCTGGGGGGGGAGG	0.668												
PHF23	79142	broad.mit.edu	37	17	7139764	7139765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7139763_7139764A>AG	uc002gfa.3	-	3	709_710	c.482_483T>CT	c.(481-483)cctfs	p.P161fs	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Frame_Shift_Ins_p.P94fs|PHF23_uc010cma.3_Frame_Shift_Ins_p.P31fs	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	161							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TAAGAGCAGCAGGGGGCCGGGA	0.589												
SEZ6	124925	broad.mit.edu	37	17	27296914	27296915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:27296913_27296914G>GC	uc002hdp.2	-	3	1109_1110	c.915_916C>GC	c.(913-918)gggcctfs	p.G305fs	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Frame_Shift_Ins_p.G305fs|SEZ6_uc002hdq.1_Frame_Shift_Ins_p.G180fs|SEZ6_uc010crz.1_Frame_Shift_Ins_p.G305fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	305						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGTGGGTCAGGCCCCCCCAGGC	0.614												
NF1	4763	broad.mit.edu	37	17	29553478	29553479	+	Frame_Shift_Ins	INS	-	-	C	rs145092683		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:29553477_29553478A>AC	uc002hgg.3	+	17	2409_2410	c.2026_2027A>AC	c.(2026-2028)accfs	p.T676fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.T676fs|NF1_uc010csn.2_Frame_Shift_Ins_p.T536fs|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	676					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.P678fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAGCGGAACCCCCCCGATT	0.460			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
SLFN13	146857	broad.mit.edu	37	17	33771844	33771844	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:33771843_33771843CA>C	uc002hjk.1	-	0	1187	c.857_857TG>G	c.(856-858)tgcfs	p.C286fs	SLFN13_uc010wch.1_Frame_Shift_Del_p.C286fs|SLFN13_uc002hjl.2_Frame_Shift_Del_p.C286fs|SLFN13_uc002hjm.2_Intron|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	286						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTTTGAAGAGCAAAAATGAAC	0.408												
SRCIN1	80725	broad.mit.edu	37	17	36708254	36708254	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:36708253_36708253TG>T	uc002hqd.3	-	13	2821	c.2596_2596CA>A	c.(2596-2598)agcfs	p.S866fs	SRCIN1_uc002hqf.1_Frame_Shift_Del_p.S738fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.S720fs|SRCIN1_uc002hqg.3_Frame_Shift_Del_p.S172fs	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	738	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGCGGGGGGCTGGGGGGTGGC	0.617												
CACNB1	782	broad.mit.edu	37	17	37341120	37341121	+	Splice_Site	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:37341119_37341120T>TG	uc002hrm.2	-	8	857	c.649_splice	c.e8-1	p.T217_splice	CACNB1_uc002hrl.1_Splice_Site|CACNB1_uc002hrn.3_Splice_Site_p.T217_splice|CACNB1_uc002hro.3_Splice_Site_p.T262_splice|CACNB1_uc002hrp.2_Intron	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	217				T -> S (in Ref. 3; AAA36167).	axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATGCTCTGTCTGGGGGGGGAAG	0.629												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
RNF43	54894	broad.mit.edu	37	17	56448298	56448299	+	Frame_Shift_Ins	INS	-	-	G	rs2257205	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:56448297_56448298C>CG	uc002iwf.3	-	1	2305_2306	c.349_350G>CG	c.(349-351)cgcfs	p.R117fs	RNF43_uc010wnv.2_Intron|RNF43_uc002iwh.4_Frame_Shift_Ins_p.R117fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.R117fs|RNF43_uc010dcw.3_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	117			R -> H (in dbSNP:rs2257205).			endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			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)					CAGGCAGGGGCGGGGGGCCCGT	0.604												
KIAA0195	9772	broad.mit.edu	37	17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	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)			GGCTCCGAGATCCCCCCCTCC	0.612												
CASKIN2	57513	broad.mit.edu	37	17	73498973	73498974	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73498972_73498973T>TG	uc002joc.3	-	17	2732_2733	c.2182_2183A>CA	c.(2182-2184)cagfs	p.Q728fs	CASKIN2_uc010wsc.2_Frame_Shift_Ins_p.Q646fs	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	728	Pro-rich.					cytoplasm		p.Q728fs*74(2)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTTCCTCTCCTGGGGGGGGCTG	0.649												
EPB41L3	23136	broad.mit.edu	37	18	5443847	5443847	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:5443846_5443846GT>G	uc002kmt.1	-	4	606	c.520_520AC>C	c.(520-522)cagfs	p.Q174fs	EPB41L3_uc010wzh.1_Frame_Shift_Del_p.Q174fs|EPB41L3_uc002kmu.1_Frame_Shift_Del_p.Q174fs|EPB41L3_uc010dkq.1_Frame_Shift_Del_p.Q65fs|EPB41L3_uc010dks.1_Frame_Shift_Del_p.Q196fs|EPB41L3_uc002kmv.1_Frame_Shift_Del_p.Q65fs	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	174	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTTCGAACCTGTTTTTTTATT	0.348												
MLL2	8085	broad.mit.edu	37	19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C	rs60207923	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					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						TGTGGCTCCTACCCCCCCAAAG	0.634			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
SPTBN4	57731	broad.mit.edu	37	19	41066082	41066082	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:41066081_41066081AG>A	uc002ony.3	+	26	5773	c.5687_5687AG>A	c.(5686-5688)gagfs	p.E1896fs	SPTBN4_uc002onx.3_Frame_Shift_Del_p.E1896fs|SPTBN4_uc002onz.3_Frame_Shift_Del_p.E1896fs|SPTBN4_uc010egx.3_Frame_Shift_Del_p.E639fs|SPTBN4_uc002ooa.3_Frame_Shift_Del_p.E572fs	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1896					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCTGCAGGAGGGGGCGGCC	0.687												
XRCC1	7515	broad.mit.edu	37	19	44056300	44056301	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:44056299_44056300T>TC	uc002owt.2	-	8	1071_1072	c.951_952A>GA	c.(949-954)gggaagfs	p.G317fs	XRCC1_uc010xwp.1_Frame_Shift_Ins_p.G286fs	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	317	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TGAAGGATCTTCCCCAGCTCCT	0.653								Other BER factors				
RTN2	6253	broad.mit.edu	37	19	45996513	45996513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:45996512_45996512AG>A	uc002pcb.3	-	4	1169	c.939_939CT>T	c.(937-939)cctfs	p.P313fs	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	313						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGACAGGAGTAGGGGGGGTGG	0.572												
TEAD2	8463	broad.mit.edu	37	19	49850473	49850474	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:49850472_49850473T>TG	uc002pnh.3	-	9	1001_1002	c.895_896A>CA	c.(895-897)catfs	p.H299fs	TEAD2_uc002png.3_Frame_Shift_Ins_p.H298fs|TEAD2_uc002pni.3_Frame_Shift_Ins_p.H298fs|TEAD2_uc002pnj.3_Frame_Shift_Ins_p.H295fs|TEAD2_uc010yao.2_Frame_Shift_Ins_p.H167fs|TEAD2_uc010emw.3_Frame_Shift_Ins_p.H298fs	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	295	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.H295fs*12(1)|p.L299P(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564												
BRSK1	84446	broad.mit.edu	37	19	55815036	55815037	+	Splice_Site	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:55815035_55815036A>AC	uc002qkf.3	+	14	1302	c.1175_splice	c.e14-1	p.D392_splice	BRSK1_uc002qkg.3_Splice_Site_p.D376_splice|BRSK1_uc002qkh.3_Splice_Site_p.D71_splice|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	376					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R379fs*9(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGTCCCTCAGACCCCCCCCGGA	0.579												
BRWD1	54014	broad.mit.edu	37	21	40570896	40570897	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:40570895_40570896G>GT	uc002yxk.2	-	39	5741_5742	c.5446_5447C>AC	c.(5446-5448)accfs	p.T1816fs	BRWD1_uc010goc.1_Frame_Shift_Ins_p.T459fs|BRWD1_uc021wjf.1_Frame_Shift_Ins_p.T1816fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T1816N(3)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAGAATCTTGGTTTTTTTAAAG	0.386												
DIP2A	23181	broad.mit.edu	37	21	47924286	47924287	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:47924285_47924286G>GC	uc002zjo.2	+	5	850_851	c.667_668G>GC	c.(667-669)gccfs	p.A223fs	DIP2A_uc011afy.1_Frame_Shift_Ins_p.A159fs|DIP2A_uc011afz.1_Frame_Shift_Ins_p.A223fs|DIP2A_uc002zjl.3_Frame_Shift_Ins_p.A223fs|DIP2A_uc002zjm.3_Frame_Shift_Ins_p.A223fs|DIP2A_uc010gql.3_Intron|DIP2A_uc002zjn.3_Frame_Shift_Ins_p.A223fs|DIP2A_uc002zjp.1_5'UTR	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	223					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCTGCATTCTGCCCCTCCTGAT	0.505												
BRD1	23774	broad.mit.edu	37	22	50169306	50169307	+	Frame_Shift_Ins	INS	-	-	C	rs145188239		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:50169305_50169306T>TC	uc011arg.2	-	11	3087_3088	c.3073_3074A>GA	c.(3073-3075)gagfs	p.E1025fs	BRD1_uc011arf.2_Frame_Shift_Ins_p.E702fs|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Frame_Shift_Ins_p.E976fs|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Frame_Shift_Ins_p.E1107fs	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	976					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		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)		CTGCATGTGCTCCCCAATCTTC	0.569												
PLXNA3	55558	broad.mit.edu	37	X	153688565	153688566	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:153688564_153688565T>TG	uc004flm.3	+	1	214_215	c.41_42T>TG	c.(40-42)gtgfs	p.V14fs		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					TTCCTTGCCGTGGGGGGGGCCC	0.683