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
UBE2J2	118424	broad.mit.edu	37	1	1192466	1192466	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:1192466G>A	uc001adn.2	-	5	630	c.320C>T	c.(319-321)CCG>CTG	p.P107L	UBE2J2_uc001adm.2_Missense_Mutation_p.P72L|UBE2J2_uc001ado.2_Missense_Mutation_p.P123L|UBE2J2_uc001adp.2_Missense_Mutation_p.P107L|UBE2J2_uc001adq.2_Missense_Mutation_p.P55L|UBE2J2_uc001adr.2_Missense_Mutation_p.P55L|UBE2J2_uc001ads.2_Missense_Mutation_p.P55L	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	107	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	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;8.75e-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)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		AGACCAGGCCGGGTTCCACGT	0.612												
UBE2J2	118424	broad.mit.edu	37	1	1203285	1203285	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:1203285G>A	uc001adn.2	-	2	398	c.88C>T	c.(88-90)CCT>TCT	p.P30S	UBE2J2_uc001adm.2_5'UTR|UBE2J2_uc001ado.2_Missense_Mutation_p.P30S|UBE2J2_uc001adp.2_Missense_Mutation_p.P30S|UBE2J2_uc001adq.2_5'UTR|UBE2J2_uc001adr.2_Intron|UBE2J2_uc001ads.2_5'UTR	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	30	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	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;8.75e-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)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CAGATGTAAGGCACCGGGTCT	0.582												
AURKAIP1	54998	broad.mit.edu	37	1	1309472	1309472	+	Missense_Mutation	SNP	G	G	A	rs149654038		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:1309472G>A	uc001afb.1	-	2	516	c.406C>T	c.(406-408)CGG>TGG	p.R136W	AURKAIP1_uc001afc.2_Missense_Mutation_p.R136W|AURKAIP1_uc001afd.2_Missense_Mutation_p.R136W|AURKAIP1_uc009vkb.1_Missense_Mutation_p.R136W	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	136					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding				0	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;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TTCATCTTCCGCCGGCGGATC	0.617												
CDK11A	728642	broad.mit.edu	37	1	1635564	1635564	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:1635564G>A	uc009vks.2	-	16	1816	c.1708C>T	c.(1708-1710)CGG>TGG	p.R570W	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Missense_Mutation_p.R77W|CDK11A_uc009vkp.2_Missense_Mutation_p.R187W|CDK11A_uc009vkq.2_Intron|CDK11A_uc009vkr.2_Missense_Mutation_p.R560W	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN	cell division cycle 2-like 2 isoform 1	573	Protein kinase.				apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			stomach(1)	1						CCGTACTCCCGCGCCAGCCCA	0.682												
GABRD	2563	broad.mit.edu	37	1	1957177	1957177	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:1957177G>A	uc001aip.2	+	4	565	c.470G>A	c.(469-471)CGA>CAA	p.R157Q		NM_000815	NP_000806	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	157	Extracellular (Probable).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TACAGCATCCGGTGAGCGGGC	0.667												
KIAA0562	9731	broad.mit.edu	37	1	3768920	3768920	+	Missense_Mutation	SNP	C	C	T	rs145413305	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:3768920C>T	uc001aky.2	-	2	411	c.52G>A	c.(52-54)GGC>AGC	p.G18S	KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.G18S	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	18						centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		GCACTGAAGCCGTCTTCGTGT	0.557												
PLEKHG5	57449	broad.mit.edu	37	1	6556577	6556577	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:6556577G>A	uc001ano.1	-	2	158	c.57C>T	c.(55-57)TGC>TGT	p.C19C	PLEKHG5_uc001ann.1_5'UTR|PLEKHG5_uc001anq.1_Silent_p.C40C|PLEKHG5_uc001anp.1_Silent_p.C40C	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	19					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCTTGTCCATGCAGGCGGGGT	0.677												
CAMTA1	23261	broad.mit.edu	37	1	7724181	7724181	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:7724181C>T	uc001aoi.2	+	9	1781	c.1574C>T	c.(1573-1575)ACC>ATC	p.T525I		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	525					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)		TTCAGCTTTACCACCGTCCTC	0.637												
CASZ1	54897	broad.mit.edu	37	1	10708045	10708045	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:10708045C>T	uc001aro.2	-	16	3630	c.3310G>A	c.(3310-3312)GCT>ACT	p.A1104T	CASZ1_uc001arp.1_Missense_Mutation_p.A1104T	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1104	Pro-rich.				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)		GGGCTGGGAGCGGGCCCCTCC	0.706												
EXOSC10	5394	broad.mit.edu	37	1	11151609	11151609	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:11151609G>A	uc001asa.2	-	4	468	c.418C>T	c.(418-420)CCT>TCT	p.P140S	EXOSC10_uc001asb.2_Missense_Mutation_p.P140S|EXOSC10_uc009vmy.1_Missense_Mutation_p.P140S	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	140					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGGAGGACAGGCTGTTGATTC	0.468												
PDPN	10630	broad.mit.edu	37	1	13910567	13910567	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:13910567C>T	uc001avd.2	+	1	316	c.267C>T	c.(265-267)AGC>AGT	p.S89S	PDPN_uc001avc.2_Silent_p.S89S|PDPN_uc009vob.2_5'Flank|PDPN_uc009voc.2_5'Flank|PDPN_uc001ave.2_5'Flank|PDPN_uc001avf.2_5'Flank	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	lung type-I cell membrane-associated	13					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				ovary(2)	2	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TTTTGGGAAGCGCGTCGCTCT	0.597												
KAZ	23254	broad.mit.edu	37	1	14925519	14925519	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:14925519C>T	uc001avm.3	+	1	307	c.26C>T	c.(25-27)GCG>GTG	p.A9V	KAZ_uc009vog.1_Missense_Mutation_p.A9V|KAZ_uc010obj.1_Missense_Mutation_p.A9V	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	9					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						AAGCAGCTCGCGCTCCGCATC	0.517												
KAZ	23254	broad.mit.edu	37	1	14925623	14925623	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:14925623G>A	uc001avm.3	+	1	411	c.130G>A	c.(130-132)GGC>AGC	p.G44S	KAZ_uc009vog.1_Missense_Mutation_p.G44S|KAZ_uc010obj.1_Missense_Mutation_p.G44S	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	44					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						GAgcggcggcggcggccccgg	0.463												
KAZ	23254	broad.mit.edu	37	1	15361377	15361377	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:15361377G>A	uc001avm.3	+	3	832	c.551G>A	c.(550-552)CGC>CAC	p.R184H	KAZ_uc009vog.1_Missense_Mutation_p.R184H|KAZ_uc010obj.1_Missense_Mutation_p.R184H|KAZ_uc001avo.2_Missense_Mutation_p.R178H|KAZ_uc001avp.2_Missense_Mutation_p.R90H|KAZ_uc001avq.2_Missense_Mutation_p.R90H|KAZ_uc001avr.2_Missense_Mutation_p.R87H	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	184	Interaction with PPL.|Potential.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						GAGCAGCACCGCAAGGTCAGC	0.642												
EPHA2	1969	broad.mit.edu	37	1	16458280	16458280	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:16458280C>T	uc001aya.1	-	14	2548	c.2411G>A	c.(2410-2412)GGC>GAC	p.G804D		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	804	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		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)	CATGACAATGCCAAAGCTCCA	0.647												
KIF17	57576	broad.mit.edu	37	1	21044071	21044071	+	Silent	SNP	G	G	A	rs143883135		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:21044071G>A	uc001bdr.3	-	1	247	c.129C>T	c.(127-129)GGC>GGT	p.G43G	KIF17_uc001bds.3_Silent_p.G43G	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	43	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGTCGGCGGCGCCCGGGTTCT	0.682												
SH2D5	400745	broad.mit.edu	37	1	21050922	21050922	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:21050922C>T	uc001bdt.1	-	5	970	c.345G>A	c.(343-345)CGG>CGA	p.R115R	SH2D5_uc009vpy.1_Silent_p.R199R|SH2D5_uc001bdu.1_RNA	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 2	115											0		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGCAGCCGCCGAAAGGAGA	0.662												
HSPG2	3339	broad.mit.edu	37	1	22172952	22172952	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:22172952T>C	uc001bfj.2	-	63	8345	c.8305A>G	c.(8305-8307)AGT>GGT	p.S2769G	HSPG2_uc009vqd.2_Missense_Mutation_p.S2770G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2769	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGATGGTGACTGGGGAGGCTG	0.657												
RUNX3	864	broad.mit.edu	37	1	25254203	25254203	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:25254203C>T	uc001bjq.2	-	2	712	c.301G>A	c.(301-303)GTG>ATG	p.V101M	RUNX3_uc010oen.1_Missense_Mutation_p.V101M|RUNX3_uc009vrj.2_Missense_Mutation_p.V115M|RUNX3_uc001bjr.2_Missense_Mutation_p.V115M	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	101	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CCATCCGGCACGTCCCCCAAT	0.632												
ZNF683	257101	broad.mit.edu	37	1	26694122	26694122	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:26694122G>A	uc001bmg.1	-	3	399	c.281C>T	c.(280-282)ACA>ATA	p.T94I	ZNF683_uc001bmh.1_Missense_Mutation_p.T94I|ZNF683_uc009vsj.1_Missense_Mutation_p.T94I	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-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;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CTGCAGGTCTGTGCCCAGGGG	0.692												
DHDDS	79947	broad.mit.edu	37	1	26795419	26795419	+	Silent	SNP	A	A	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:26795419A>C	uc001bml.2	+	9	920	c.799A>C	c.(799-801)AGG>CGG	p.R267R	DHDDS_uc001bmk.2_Silent_p.R268R|DHDDS_uc001bmm.2_Silent_p.R174R|DHDDS_uc001bmn.2_Silent_p.R228R|DHDDS_uc010ofd.1_Silent_p.R233R|uc001bmo.1_5'Flank	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	267							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-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;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGAGCGGAAGAGGCAGCAGCT	0.592												
ARID1A	8289	broad.mit.edu	37	1	27088699	27088699	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:27088699G>A	uc001bmv.1	+	7	2681	c.2308G>A	c.(2308-2310)GCC>ACC	p.A770T	ARID1A_uc001bmt.1_Missense_Mutation_p.A770T|ARID1A_uc001bmu.1_Missense_Mutation_p.A770T|ARID1A_uc001bmw.1_Missense_Mutation_p.A387T	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	770					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)		GCCCGGCTCAGCCTTATCTCC	0.542			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
WDTC1	23038	broad.mit.edu	37	1	27620601	27620601	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:27620601G>A	uc009vst.2	+	8	1286	c.751G>A	c.(751-753)GTA>ATA	p.V251I	WDTC1_uc001bno.2_Missense_Mutation_p.V251I|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_5'Flank	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	251							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCAGTATTACGTAGCAGGTAG	0.527												
MAP3K6	9064	broad.mit.edu	37	1	27684337	27684337	+	Silent	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:27684337A>T	uc001bny.1	-	22	3195	c.2946T>A	c.(2944-2946)CCT>CCA	p.P982P	MAP3K6_uc009vsw.1_Silent_p.P974P	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	982					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCGGAGACGCAGGCTCCTCGG	0.682											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CD164L2	388611	broad.mit.edu	37	1	27709037	27709037	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:27709037C>T	uc001boc.2	-	2	285	c.209G>A	c.(208-210)CGC>CAC	p.R70H		NM_207397	NP_997280	Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	70	Extracellular (Potential).					integral to membrane					0		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGAGATTGCGCGCTCTGTC	0.647												
AHDC1	27245	broad.mit.edu	37	1	27876815	27876815	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:27876815G>A	uc009vsy.2	-	6	2781	c.1812C>T	c.(1810-1812)GAC>GAT	p.D604D	AHDC1_uc009vsz.1_Silent_p.D604D	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	604							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGTCGTTGGCGTCTGCTGCAT	0.642												
PUM1	9698	broad.mit.edu	37	1	31452916	31452916	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:31452916C>T	uc001bsi.1	-	9	1460	c.1347G>A	c.(1345-1347)GCG>GCA	p.A449A	PUM1_uc001bsf.1_Silent_p.A115A|PUM1_uc001bsg.1_Silent_p.A262A|PUM1_uc001bsh.1_Silent_p.A449A|PUM1_uc001bsj.1_Silent_p.A450A|PUM1_uc010oga.1_Silent_p.A353A|PUM1_uc001bsk.1_Silent_p.A485A|PUM1_uc010ogb.1_Silent_p.A390A	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	449	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CACCTAGTGTCGCTGCTGCAG	0.493												
SERINC2	347735	broad.mit.edu	37	1	31898734	31898734	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:31898734A>C	uc010ogh.1	+	5	797	c.596A>C	c.(595-597)GAG>GCG	p.E199A	SERINC2_uc010ogg.1_Missense_Mutation_p.E196A|SERINC2_uc009vtw.1_Silent_p.G168G|SERINC2_uc001bst.2_Missense_Mutation_p.E195A|SERINC2_uc001bsu.2_Missense_Mutation_p.E140A|SERINC2_uc001bsv.2_Missense_Mutation_p.E140A	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN	tumor differentially expressed 2-like	195						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		AAGGCCGAGGAGTGCGATTCC	0.652												
HDAC1	3065	broad.mit.edu	37	1	32793251	32793251	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:32793251G>T	uc001bvb.1	+	6	672	c.609G>T	c.(607-609)GAG>GAT	p.E203D	HDAC1_uc010ohd.1_Missense_Mutation_p.E203D|HDAC1_uc010ohe.1_Missense_Mutation_p.E140D|HDAC1_uc010ohf.1_Missense_Mutation_p.E174D|HDAC1_uc001bvc.1_5'Flank	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	203	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)	AGTATGGAGAGTACTTCCCAG	0.532												
ADC	113451	broad.mit.edu	37	1	33560306	33560306	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:33560306T>G	uc001bwr.2	+	8	1332	c.745T>G	c.(745-747)TTT>GTT	p.F249V	ADC_uc001bws.2_Missense_Mutation_p.F249V|ADC_uc009vue.2_Missense_Mutation_p.F249V|ADC_uc001bwt.1_Missense_Mutation_p.F154V|ADC_uc001bwu.2_Missense_Mutation_p.F154V|ADC_uc001bwv.2_Missense_Mutation_p.F154V|ADC_uc001bww.2_Missense_Mutation_p.F154V|ADC_uc001bwx.1_Missense_Mutation_p.F226V|ADC_uc001bwz.1_Missense_Mutation_p.F249V|ADC_uc009vuf.1_Intron|ADC_uc001bwy.1_Missense_Mutation_p.F98V|ADC_uc009vug.2_Missense_Mutation_p.F249V	NM_052998	NP_443724	Q96A70	ADC_HUMAN	ODC antizyme inhibitor-2	249					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CAAAGTGAGATTTGAAGAGGT	0.592											OREG0013339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DLGAP3	58512	broad.mit.edu	37	1	35334691	35334691	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:35334691C>T	uc001byc.2	-	7	2001	c.2001_splice	c.e7-1	p.R667_splice		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated						cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CCTTGCTCGCCTGGGGAGAGG	0.617												
MACF1	23499	broad.mit.edu	37	1	39854025	39854025	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:39854025G>A	uc010oiu.1	+	22	10962	c.10831G>A	c.(10831-10833)GTC>ATC	p.V3611I	MACF1_uc010ois.1_Missense_Mutation_p.V3109I|MACF1_uc001cda.1_Missense_Mutation_p.V2996I|MACF1_uc001cdc.1_Missense_Mutation_p.V2175I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5176	LRR 20.				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)			CAAAATTCACGTCCTCAAATT	0.478												
CAP1	10487	broad.mit.edu	37	1	40525076	40525076	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:40525076G>A	uc001cfa.3	+	2	287	c.58G>A	c.(58-60)GCA>ACA	p.A20T	CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.A20T|CAP1_uc001cez.3_Missense_Mutation_p.A20T|CAP1_uc009vvz.2_Missense_Mutation_p.A20T|CAP1_uc010oje.1_5'UTR	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	20					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGCCTGGAGGCAGTATCTCA	0.483												
MPL	4352	broad.mit.edu	37	1	43818232	43818232	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:43818232G>A	uc001ciw.2	+	12	1742	c.1697G>A	c.(1696-1698)AGC>AAC	p.S566N	MPL_uc009vwr.2_Missense_Mutation_p.S559N	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	566	Cytoplasmic (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGGAACCCAGCCTCCTTGAA	0.572			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia					
ATP6V0B	533	broad.mit.edu	37	1	44442888	44442888	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:44442888G>T	uc001cld.2	+	7	702	c.591G>T	c.(589-591)CAG>CAT	p.Q197H	ATP6V0B_uc001clc.2_Missense_Mutation_p.Q197H|ATP6V0B_uc001cle.2_Missense_Mutation_p.Q150H|ATP6V0B_uc001clf.2_Missense_Mutation_p.Q150H|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank|B4GALT2_uc010okl.1_5'Flank	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	197	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CAATTCTTCAGGTGATGAATC	0.517												
PLK3	1263	broad.mit.edu	37	1	45266542	45266542	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:45266542G>A	uc001cmn.2	+	2	341	c.241G>A	c.(241-243)GAC>AAC	p.D81N	PLK3_uc001cmo.2_5'Flank	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	81	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					CGAGGCCACTGACACAGAGAC	0.692												
PTCH2	8643	broad.mit.edu	37	1	45294915	45294915	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:45294915C>T	uc010olf.1	-	10	1297	c.1285G>A	c.(1285-1287)GGG>AGG	p.G429R	PTCH2_uc010olg.1_Missense_Mutation_p.G128R	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	429	Helical; (Potential).|SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGCAGTACCCCGGCAAGGCCC	0.672									Basal_Cell_Nevus_syndrome			
SCP2	6342	broad.mit.edu	37	1	53446175	53446175	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:53446175C>T	uc001cur.1	+	10	1054	c.933C>T	c.(931-933)AAC>AAT	p.N311N	SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Silent_p.N230N|SCP2_uc010onp.1_Silent_p.N287N|SCP2_uc009vzi.1_Silent_p.N267N|SCP2_uc001cuq.1_Silent_p.N267N	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	311					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1						TTTCTACCAACGAACTCCTTA	0.373												
DOCK7	85440	broad.mit.edu	37	1	62960061	62960061	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:62960061C>T	uc001daq.2	-	40	5109	c.5075G>A	c.(5074-5076)CGA>CAA	p.R1692Q	DOCK7_uc001dan.2_Missense_Mutation_p.R1553Q|DOCK7_uc001dao.2_Missense_Mutation_p.R1553Q|DOCK7_uc001dap.2_Missense_Mutation_p.R1670Q|DOCK7_uc001dam.2_Missense_Mutation_p.R872Q|DOCK7_uc010oov.1_Missense_Mutation_p.R431Q	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1701	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						ATGATTGCTTCGTTCTGAGTG	0.473												
ATG4C	84938	broad.mit.edu	37	1	63299733	63299733	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:63299733G>A	uc001dat.2	+	8	1120	c.958G>A	c.(958-960)GTG>ATG	p.V320M	ATG4C_uc001dau.2_Missense_Mutation_p.V320M	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	320					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						GGAATATTGTGTGGGTATTAT	0.289												
ROR1	4919	broad.mit.edu	37	1	64644147	64644147	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:64644147C>T	uc001dbj.2	+	9	2822	c.2423C>T	c.(2422-2424)CCG>CTG	p.P808L	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	808	Cytoplasmic (Potential).|Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						TTCATTGGCCCGCCAATACCT	0.517												
DNAJC6	9829	broad.mit.edu	37	1	65874405	65874405	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:65874405G>A	uc001dcd.1	+	17	2566	c.2402G>A	c.(2401-2403)CGG>CAG	p.R801Q	DNAJC6_uc010opc.1_Missense_Mutation_p.R788Q|DNAJC6_uc001dce.1_Missense_Mutation_p.R858Q	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	801					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						AAGGGGCCTCGGACAATAGCT	0.423												
CLCA1	1179	broad.mit.edu	37	1	86961302	86961302	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:86961302G>A	uc001dlt.2	+	12	2186	c.2057G>A	c.(2056-2058)CGG>CAG	p.R686Q		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	686					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCAGCCAGACGGAGAGTGATA	0.458												
ZNF644	84146	broad.mit.edu	37	1	91405088	91405088	+	Missense_Mutation	SNP	A	A	G	rs144401883		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:91405088A>G	uc001dnw.2	-	3	1965	c.1823T>C	c.(1822-1824)TTG>TCG	p.L608S	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.L608S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	608	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGATGAATGCAAGTACTCCGT	0.353												
TGFBR3	7049	broad.mit.edu	37	1	92181821	92181821	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:92181821A>G	uc001doh.2	-	12	2304	c.1838T>C	c.(1837-1839)GTG>GCG	p.V613A	TGFBR3_uc009wde.2_Missense_Mutation_p.V390A|TGFBR3_uc010osy.1_Missense_Mutation_p.V571A|TGFBR3_uc001doi.2_Missense_Mutation_p.V612A|TGFBR3_uc001doj.2_Missense_Mutation_p.V612A	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	613	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATTCTCTGGCACAGAGAAGAC	0.488												
FRRS1	391059	broad.mit.edu	37	1	100195232	100195232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:100195232G>A	uc001dsh.1	-	8	1434	c.832C>T	c.(832-834)CGA>TGA	p.R278*		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	stromal cell derived factor receptor 2 homolog	278	DOMON.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			skin(1)	1		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GGGTGACTTCGCCCCGTTAAA	0.478												
CELSR2	1952	broad.mit.edu	37	1	109811556	109811556	+	Missense_Mutation	SNP	G	G	A	rs141644848		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:109811556G>A	uc001dxa.3	+	19	6618	c.6557G>A	c.(6556-6558)CGC>CAC	p.R2186H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2186	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AAGCTGCCCCGCTACGAGGCC	0.592												
FAM40A	85369	broad.mit.edu	37	1	110586300	110586300	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:110586300C>T	uc001dza.1	+	10	1127	c.1108C>T	c.(1108-1110)CGG>TGG	p.R370W	FAM40A_uc001dyz.1_Missense_Mutation_p.R275W|FAM40A_uc009wfp.1_Missense_Mutation_p.R194W	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	370						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CTTCAACGAGCGGGATCCCTA	0.532												
KCNA10	3744	broad.mit.edu	37	1	111060754	111060754	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:111060754G>A	uc001dzt.1	-	1	1044	c.656C>T	c.(655-657)GCC>GTC	p.A219V		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	219	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CGAGACCACGGCCACAGCACG	0.552												
MOV10	4343	broad.mit.edu	37	1	113239384	113239384	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:113239384G>A	uc001eck.2	+	14	2384	c.2114G>A	c.(2113-2115)CGG>CAG	p.R705Q	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.R705Q|MOV10_uc001ecm.2_Missense_Mutation_p.R645Q	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	705					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTGCTGGAGCGGCTGCTCACC	0.602												
RSBN1	54665	broad.mit.edu	37	1	114310974	114310974	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:114310974G>A	uc001edq.2	-	5	1732	c.1696C>T	c.(1696-1698)CGG>TGG	p.R566W	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	566						nucleus				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)		TCACTGGTCCGAGGTAGGTAC	0.428												
AP4B1	10717	broad.mit.edu	37	1	114442915	114442915	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:114442915C>A	uc001eeb.2	-	5	868	c.725G>T	c.(724-726)AGT>ATT	p.S242I	uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.S74I|AP4B1_uc001eed.2_Missense_Mutation_p.S242I|AP4B1_uc010owp.1_Missense_Mutation_p.S143I|AP4B1_uc001eea.1_Missense_Mutation_p.S36I|AP4B1_uc010owq.1_Missense_Mutation_p.S149I	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	242					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGAGGAAACTATCCAACAG	0.463												
TRIM33	51592	broad.mit.edu	37	1	114969847	114969847	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:114969847G>A	uc001eew.2	-	8	1456	c.1372C>T	c.(1372-1374)CGT>TGT	p.R458C	TRIM33_uc010owr.1_Missense_Mutation_p.R66C|TRIM33_uc010ows.1_Missense_Mutation_p.R66C|TRIM33_uc001eex.2_Missense_Mutation_p.R458C	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	458					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)		CAATGGAAACGTATTGCTCCA	0.378			T	RET	papillary thyroid							
IGSF3	3321	broad.mit.edu	37	1	117146584	117146584	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:117146584C>T	uc001egr.1	-	6	1991	c.1286G>A	c.(1285-1287)CGC>CAC	p.R429H	IGSF3_uc001egq.1_Missense_Mutation_p.R449H|IGSF3_uc001egs.1_Missense_Mutation_p.R102H	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	429	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GCAGGAGAAGCGCAGGTCCTC	0.607												
TRIM45	80263	broad.mit.edu	37	1	117663484	117663484	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:117663484C>T	uc001egz.2	-	1	928	c.340G>A	c.(340-342)GAC>AAC	p.D114N	TRIM45_uc009whe.2_Missense_Mutation_p.D114N|TRIM45_uc001eha.2_Missense_Mutation_p.D10N	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	114						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)		GCCAGGTGGTCTATGGTTAAA	0.562												
FAM46C	54855	broad.mit.edu	37	1	118165698	118165698	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:118165698C>T	uc001ehe.2	+	2	407	c.208C>T	c.(208-210)CGG>TGG	p.R70W		NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	hypothetical protein LOC54855	70											0	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GCACGACGTCCGGCTGAATGG	0.567										Multiple Myeloma(3;1.13e-06)		
WARS2	10352	broad.mit.edu	37	1	119575804	119575804	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:119575804G>A	uc001ehn.2	-	6	841	c.813C>T	c.(811-813)GGC>GGT	p.G271G	WARS2_uc010oxf.1_Silent_p.G177G|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Silent_p.G214G|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	271					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TGTTGGACACGCCAGCGCGGC	0.622												
ZNF697	90874	broad.mit.edu	37	1	120165709	120165709	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:120165709G>A	uc001ehy.1	-	3	1371	c.1257C>T	c.(1255-1257)AGC>AGT	p.S419S		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	419	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GCGAGCTGACGCTGAAGGTCT	0.672												
NOTCH2	4853	broad.mit.edu	37	1	120478152	120478152	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:120478152C>A	uc001eik.2	-	22	3854	c.3598G>T	c.(3598-3600)GGC>TGC	p.G1200C	NOTCH2_uc001eil.2_Missense_Mutation_p.G1200C	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1200	EGF-like 31; calcium-binding (Potential).|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATACAGGTGCCTCCATTCTGG	0.493			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
HIST2H2BE	8349	broad.mit.edu	37	1	149858090	149858090	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:149858090C>T	uc001etc.2	-	1	143	c.101G>A	c.(100-102)CGC>CAC	p.R34H	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	34					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCTCTCTTTGCGGCTGCGCTT	0.572												
ADAMTSL4	54507	broad.mit.edu	37	1	150529506	150529506	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:150529506C>T	uc001eux.2	+	11	2077	c.1841C>T	c.(1840-1842)CCT>CTT	p.P614L	ADAMTSL4_uc001euw.2_Missense_Mutation_p.P614L|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.P637L|ADAMTSL4_uc010pcg.1_Intron|ADAMTSL4_uc009wlx.2_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	614	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCAGAGCCCCCTGTCCCCCAG	0.577												
TMOD4	29765	broad.mit.edu	37	1	151143409	151143409	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:151143409C>T	uc001exc.3	-	8	1047	c.857G>A	c.(856-858)CGT>CAT	p.R286H	TMOD4_uc001exb.2_Missense_Mutation_p.R114H|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.R217H	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	286					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATTGTCTACACGGAGCTCAGT	0.507												
POGZ	23126	broad.mit.edu	37	1	151378254	151378254	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:151378254C>T	uc001eyd.1	-	19	3563	c.3257G>A	c.(3256-3258)CGG>CAG	p.R1086Q	POGZ_uc001eye.1_Missense_Mutation_p.R1033Q|POGZ_uc010pdb.1_Missense_Mutation_p.R1077Q|POGZ_uc001eyf.1_Missense_Mutation_p.R1042Q|POGZ_uc010pdc.1_Missense_Mutation_p.R1024Q|POGZ_uc009wmv.1_Missense_Mutation_p.R991Q|POGZ_uc010pdd.1_Missense_Mutation_p.R577Q	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1086					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACAGCTCGCCGGGCATGGGG	0.527												
RORC	6097	broad.mit.edu	37	1	151787739	151787739	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:151787739G>A	uc001ezh.2	-	5	569	c.461C>T	c.(460-462)CCA>CTA	p.P154L	RORC_uc001ezg.2_Missense_Mutation_p.P133L|RORC_uc010pdo.1_Missense_Mutation_p.P208L|RORC_uc010pdp.1_Missense_Mutation_p.P154L	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	154	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCCCGTCTGGGAGCCCCAA	0.557												
FLG	2312	broad.mit.edu	37	1	152281748	152281748	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:152281748T>C	uc001ezu.1	-	3	5650	c.5614A>G	c.(5614-5616)AAA>GAA	p.K1872E		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1872	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATTGTTTCTCATTACGT	0.577									Ichthyosis			
INTS3	65123	broad.mit.edu	37	1	153723704	153723704	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:153723704C>T	uc009wom.2	+	8	939	c.718C>T	c.(718-720)CTT>TTT	p.L240F	INTS3_uc001fct.2_Missense_Mutation_p.L240F|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Missense_Mutation_p.L34F|INTS3_uc010peb.1_Missense_Mutation_p.L34F|INTS3_uc001fcw.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	241					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)			CATCTCACTGCTTCGGGAACG	0.527												
TPM3	7170	broad.mit.edu	37	1	154145590	154145590	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:154145590A>G	uc001fec.1	-	4	580	c.465T>C	c.(463-465)ATT>ATC	p.I155I	TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Silent_p.I28I|TPM3_uc001fdy.1_Silent_p.I118I|TPM3_uc001fdz.1_Silent_p.I118I|TPM3_uc001fea.1_Silent_p.I118I|TPM3_uc001feb.1_Silent_p.I118I|TPM3_uc010pej.1_Silent_p.I51I|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Silent_p.I118I	NM_152263	NP_689476	P06753	TPM3_HUMAN	tropomyosin 3 isoform 1	154	By similarity.				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/ALK(33)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCTCTTCTGCAATGTGCTTAG	0.423			T	NTRK1|ALK	papillary thyroid|ALCL							
THBS3	7059	broad.mit.edu	37	1	155175055	155175055	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:155175055C>T	uc001fix.2	-	3	362	c.339G>A	c.(337-339)CAG>CAA	p.Q113Q	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.Q113Q|THBS3_uc001fiz.2_Silent_p.Q113Q|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Intron|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_RNA|THBS3_uc009wqj.1_Silent_p.Q75Q	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	113	TSP N-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCCCGCTTGCTGTAGGTTCA	0.632												
PMF1	11243	broad.mit.edu	37	1	156206136	156206136	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:156206136G>A	uc001fnq.2	+	4	449	c.426G>A	c.(424-426)CTG>CTA	p.L142L	PMF1_uc001fnr.2_Intron|BGLAP_uc001fns.1_Intron	NM_007221	NP_009152	Q6P1K2	PMF1_HUMAN	polyamine-modulated factor 1	142	Potential.				cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytosol|MIS12/MIND type complex|transcription factor complex	leucine zipper domain binding|transcription coactivator activity				0	Hepatocellular(266;0.158)					CCTACTTCCTGCAGCAACGGG	0.652												
PMF1	11243	broad.mit.edu	37	1	156206232	156206232	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:156206232G>T	uc001fnq.2	+	4	545	c.522G>T	c.(520-522)GAG>GAT	p.E174D	PMF1_uc001fnr.2_Missense_Mutation_p.R154M|BGLAP_uc001fns.1_Intron	NM_007221	NP_009152	Q6P1K2	PMF1_HUMAN	polyamine-modulated factor 1	174	Potential.				cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytosol|MIS12/MIND type complex|transcription factor complex	leucine zipper domain binding|transcription coactivator activity				0	Hepatocellular(266;0.158)					GGCAGGTGGAGGAGCTGCAGC	0.652												
ARHGEF11	9826	broad.mit.edu	37	1	156926334	156926334	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:156926334T>C	uc001fqo.2	-	18	2469	c.1429A>G	c.(1429-1431)AAT>GAT	p.N477D	ARHGEF11_uc001fqn.2_Missense_Mutation_p.N517D|ARHGEF11_uc001fqp.1_Missense_Mutation_p.N6D	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	477	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGTAGGTATTGAGGGCGAAG	0.532												
OR6K6	128371	broad.mit.edu	37	1	158724836	158724836	+	Silent	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:158724836C>A	uc001fsw.1	+	1	231	c.231C>A	c.(229-231)ATC>ATA	p.I77I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	77	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					TCATTGTCATCCAGGTGGGCA	0.473												
CCDC19	25790	broad.mit.edu	37	1	159846512	159846512	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:159846512C>T	uc001fui.2	-	10	1204	c.1186G>A	c.(1186-1188)GAG>AAG	p.E396K	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E311K|CCDC19_uc001ful.2_Missense_Mutation_p.E311K|CCDC19_uc009wtc.1_Missense_Mutation_p.G395E	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	396	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGCAACCTCCTGGTTGCGC	0.537												
ATP1A4	480	broad.mit.edu	37	1	160143949	160143949	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:160143949G>C	uc001fve.3	+	14	2519	c.2040G>C	c.(2038-2040)CAG>CAC	p.Q680H	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.Q183H	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	680	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			aggacatacagtccaagcagc	0.199												
PPOX	5498	broad.mit.edu	37	1	161136683	161136683	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:161136683G>A	uc001fyj.2	+	2	336	c.46G>A	c.(46-48)GCC>ACC	p.A16T	PPOX_uc001fyn.2_Missense_Mutation_p.A16T|PPOX_uc001fyg.2_Missense_Mutation_p.A16T|PPOX_uc001fyl.2_5'UTR|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_5'UTR|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Missense_Mutation_p.A16T|PPOX_uc001fyi.2_5'UTR	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	16					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGCGGCTTGGCCGCCAGTTA	0.632									Porphyria_Variegata			
HSPA6	3310	broad.mit.edu	37	1	161495244	161495244	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:161495244C>T	uc001gap.2	+	2	1456	c.796C>T	c.(796-798)CGC>TGC	p.R266C	HSPA6_uc001gaq.2_Missense_Mutation_p.R266C	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	266					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCGCAGGCTGCGCACAGCCTG	0.622												
RCSD1	92241	broad.mit.edu	37	1	167654689	167654689	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:167654689C>T	uc001gem.2	+	3	327	c.140C>T	c.(139-141)CCG>CTG	p.P47L	RCSD1_uc010pli.1_Intron	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	47										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					CGAAGGAAACCGCCCTGTTCC	0.577												
GPR161	23432	broad.mit.edu	37	1	168054942	168054942	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:168054942C>T	uc001gfc.2	-	8	1731	c.1417G>A	c.(1417-1419)GAA>AAA	p.E473K	GPR161_uc001gfb.2_Missense_Mutation_p.E341K|GPR161_uc010pll.1_Missense_Mutation_p.E383K|GPR161_uc010plm.1_Missense_Mutation_p.E359K|GPR161_uc009wvo.2_Missense_Mutation_p.E490K|GPR161_uc001gfd.2_Missense_Mutation_p.E473K|GPR161_uc010pln.1_Missense_Mutation_p.E493K	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	473	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					ATTTTGGCTTCGGCCTCAATG	0.567												
KIFAP3	22920	broad.mit.edu	37	1	169923216	169923216	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:169923216C>T	uc001ggv.2	-	19	2480	c.2209G>A	c.(2209-2211)GAT>AAT	p.D737N	KIFAP3_uc010plx.1_Missense_Mutation_p.D439N	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	737					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGAAGAAATCGGGACTTATG	0.363												
FMO2	2327	broad.mit.edu	37	1	171173044	171173044	+	Missense_Mutation	SNP	G	G	A	rs147227176	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:171173044G>A	uc001ghk.1	+	6	785	c.668G>A	c.(667-669)CGT>CAT	p.R223H	FMO2_uc010pmd.1_Missense_Mutation_p.R3H	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	223					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCATGAGCCGTATCTCTGAA	0.468												
BAT2L2	23215	broad.mit.edu	37	1	171501615	171501615	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:171501615G>A	uc010pmg.1	+	12	1648	c.1382G>A	c.(1381-1383)CGT>CAT	p.R461H	BAT2L2_uc001ghr.1_Missense_Mutation_p.R463H	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	461							protein C-terminus binding				0						GCAGTAGAACGTGCTCGTAAA	0.473												
PRDX6	9588	broad.mit.edu	37	1	173454570	173454570	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:173454570G>A	uc001giy.1	+	3	374	c.323G>A	c.(322-324)CGG>CAG	p.R108Q		NM_004905	NP_004896	P30041	PRDX6_HUMAN	peroxiredoxin 6	108	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			central_nervous_system(1)	1						GATAGGAATCGGGAGCTTGCC	0.448												
CEP350	9857	broad.mit.edu	37	1	180022186	180022186	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:180022186G>A	uc001gnt.2	+	23	5257	c.4874G>A	c.(4873-4875)CGA>CAA	p.R1625Q	CEP350_uc009wxl.2_Missense_Mutation_p.R1624Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1625						centrosome|nucleus|spindle				ovary(4)	4						CAATCATTTCGATCATTACTA	0.353												
KIAA1614	57710	broad.mit.edu	37	1	180904929	180904929	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:180904929G>A	uc001gok.2	+	5	1951	c.1884G>A	c.(1882-1884)GCG>GCA	p.A628A	KIAA1614_uc001gol.1_Silent_p.A249A|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	628										ovary(3)|skin(1)	4						GTGAGGAGGCGGGGACCTCTC	0.667												
ZNF648	127665	broad.mit.edu	37	1	182026330	182026330	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:182026330G>A	uc001goz.2	-	2	1024	c.816C>T	c.(814-816)CGC>CGT	p.R272R		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CGGCGCCGCCGCGCGTCTCCG	0.751												
ZNF648	127665	broad.mit.edu	37	1	182026596	182026596	+	Missense_Mutation	SNP	C	C	T	rs146081397	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:182026596C>T	uc001goz.2	-	2	758	c.550G>A	c.(550-552)GCA>ACA	p.A184T		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GAGTTCCCTGCGGACGTGTCT	0.592												
NCF2	4688	broad.mit.edu	37	1	183559420	183559420	+	Silent	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:183559420C>A	uc001gqj.3	-	1	320	c.45G>T	c.(43-45)CTG>CTT	p.L15L	NCF2_uc010pod.1_Silent_p.L15L|NCF2_uc010poe.1_Silent_p.L15L|NCF2_uc001gqk.3_Silent_p.L15L	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	15					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						TGTCCGCTGCCAGCACCCCTT	0.567												
HMCN1	83872	broad.mit.edu	37	1	185958749	185958749	+	Missense_Mutation	SNP	G	G	A	rs149692259	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:185958749G>A	uc001grq.1	+	21	3407	c.3178G>A	c.(3178-3180)GCC>ACC	p.A1060T	HMCN1_uc001grr.1_Missense_Mutation_p.A401T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1060	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGCCGGCTACGCCAAAAGGAA	0.483												
HMCN1	83872	broad.mit.edu	37	1	186114581	186114581	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:186114581G>A	uc001grq.1	+	92	14542	c.14313G>A	c.(14311-14313)CGG>CGA	p.R4771R	HMCN1_uc001grs.1_Silent_p.R340R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4771	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CATGCAGCCGGACGTGTAACG	0.547												
HMCN1	83872	broad.mit.edu	37	1	186147634	186147634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:186147634G>T	uc001grq.1	+	104	16259	c.16030G>T	c.(16030-16032)GGA>TGA	p.G5344*	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5344	EGF-like 6; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTGTCCACCAGGACAACATTT	0.488												
PRG4	10216	broad.mit.edu	37	1	186277217	186277217	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:186277217C>A	uc001gru.3	+	7	2417	c.2366C>A	c.(2365-2367)CCT>CAT	p.P789H	PRG4_uc001grt.3_Missense_Mutation_p.P748H|PRG4_uc009wyl.2_Missense_Mutation_p.P696H|PRG4_uc009wym.2_Missense_Mutation_p.P655H|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	789	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|52.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CTCAAGGAACCTGCACCCACT	0.597												
KCNT2	343450	broad.mit.edu	37	1	196392226	196392226	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:196392226G>C	uc001gtd.1	-	12	1199	c.1139C>G	c.(1138-1140)GCC>GGC	p.A380G	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.A380G|KCNT2_uc001gtf.1_Missense_Mutation_p.A380G|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.A380G|KCNT2_uc009wyv.1_Missense_Mutation_p.A355G	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	380	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						AATAAAACAGGCCTCAGCGTC	0.338												
GPR25	2848	broad.mit.edu	37	1	200843191	200843191	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:200843191C>T	uc001gvn.1	+	1	1026	c.1026C>T	c.(1024-1026)GAC>GAT	p.D342D		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	342	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						TCTCCAGGGACGACAGTTCCG	0.736												
CACNA1S	779	broad.mit.edu	37	1	201013510	201013510	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:201013510C>A	uc001gvv.2	-	39	4970	c.4743G>T	c.(4741-4743)GAG>GAT	p.E1581D		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1581	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)	CCAGCTCCTCCTCAGCAGCCA	0.612												
IPO9	55705	broad.mit.edu	37	1	201827617	201827617	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:201827617G>A	uc001gwz.2	+	12	1314	c.1264G>A	c.(1264-1266)GCT>ACT	p.A422T		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	422					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						AGCAGCCCTGGCTGCTGCAGC	0.443												
CNTN2	6900	broad.mit.edu	37	1	205030396	205030396	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:205030396G>A	uc001hbr.2	+	8	1090	c.821G>A	c.(820-822)CGC>CAC	p.R274H	CNTN2_uc001hbq.1_Missense_Mutation_p.R165H|CNTN2_uc009xbi.2_Missense_Mutation_p.R165H|CNTN2_uc001hbs.2_Missense_Mutation_p.R62H	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	274	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATCAAGTGGCGCAAAGTGGAC	0.647											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IKBKE	9641	broad.mit.edu	37	1	206650040	206650040	+	Missense_Mutation	SNP	G	G	A	rs145501152	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:206650040G>A	uc001hdz.1	+	7	928	c.560G>A	c.(559-561)CGG>CAG	p.R187Q	IKBKE_uc009xbu.1_Missense_Mutation_p.R187Q|IKBKE_uc009xbv.1_Missense_Mutation_p.R187Q|IKBKE_uc001hea.1_Missense_Mutation_p.R102Q	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	187	Protein kinase.			R -> Q (in Ref. 7; AAI05925).	DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					ATGTATGAGCGGGCGGTGCTT	0.617												
CAMK1G	57172	broad.mit.edu	37	1	209785458	209785458	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:209785458G>A	uc001hhd.2	+	11	1339	c.1237G>A	c.(1237-1239)GCC>ACC	p.A413T	CAMK1G_uc001hhf.3_Missense_Mutation_p.A413T|CAMK1G_uc001hhe.2_Missense_Mutation_p.A413T	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	413						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GTCCCTGGCCGCCGGGCCCTG	0.622												
PTPN14	5784	broad.mit.edu	37	1	214557451	214557451	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:214557451C>T	uc001hkk.1	-	13	2018	c.1747G>A	c.(1747-1749)GCC>ACC	p.A583T	PTPN14_uc010pty.1_Missense_Mutation_p.A484T	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	583					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CGGTGGCTGGCCAGGTCTGGG	0.637												
OBSCN	84033	broad.mit.edu	37	1	228400402	228400402	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:228400402C>T	uc009xez.1	+	2	962	c.918C>T	c.(916-918)CGC>CGT	p.R306R	OBSCN_uc001hsn.2_Silent_p.R306R|uc001hsm.1_RNA	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	306	Ig-like 3.				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)				AGTCGGACCGCGGCCTCTACA	0.682												
OBSCN	84033	broad.mit.edu	37	1	228412271	228412271	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:228412271C>T	uc009xez.1	+	9	2809	c.2765C>T	c.(2764-2766)ACG>ATG	p.T922M	OBSCN_uc001hsn.2_Missense_Mutation_p.T922M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	922	Ig-like 9.				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)				ACGGAGGTGACGTGGTACAAG	0.642												
OBSCN	84033	broad.mit.edu	37	1	228482038	228482038	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:228482038G>T	uc009xez.1	+	42	11361	c.11317G>T	c.(11317-11319)GGC>TGC	p.G3773C	OBSCN_uc001hsn.2_Missense_Mutation_p.G3773C|OBSCN_uc001hsq.1_Missense_Mutation_p.G1029C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3773	Ig-like 38.				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)				GCAGATCCGTGGCCTGGCTGT	0.627												
NUP133	55746	broad.mit.edu	37	1	229599315	229599315	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:229599315C>T	uc001htn.2	-	19	2752	c.2660G>A	c.(2659-2661)CGC>CAC	p.R887H		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	887					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGTCATGTAGCGCTGGAGTCG	0.473												
SIPA1L2	57568	broad.mit.edu	37	1	232650124	232650124	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:232650124C>T	uc001hvg.2	-	1	1120	c.962G>A	c.(961-963)CGC>CAC	p.R321H		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	321					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATTCCAAGGGCGAATGCCCCT	0.468												
LYST	1130	broad.mit.edu	37	1	235922666	235922666	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:235922666C>T	uc001hxj.2	-	23	6662	c.6487G>A	c.(6487-6489)GCA>ACA	p.A2163T	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2163					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGATGAATGCGTCCTCTTTG	0.453									Chediak-Higashi_syndrome			
RYR2	6262	broad.mit.edu	37	1	237617717	237617717	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:237617717C>T	uc001hyl.1	+	15	1439	c.1319C>T	c.(1318-1320)GCG>GTG	p.A440V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	440	Cytoplasmic (By similarity).				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)			AGCAAGAAAGCGAAGGCTTCC	0.403												
RYR2	6262	broad.mit.edu	37	1	237870524	237870524	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:237870524A>G	uc001hyl.1	+	68	9976	c.9856A>G	c.(9856-9858)AAT>GAT	p.N3286D	RYR2_uc010pxz.1_Missense_Mutation_p.N241D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3286					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)			AATCATATATAATAACTTGGG	0.438												
FMN2	56776	broad.mit.edu	37	1	240497412	240497412	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:240497412G>A	uc010pyd.1	+	13	4873	c.4648G>A	c.(4648-4650)GCT>ACT	p.A1550T	FMN2_uc010pye.1_Missense_Mutation_p.A1554T|FMN2_uc010pyf.1_Missense_Mutation_p.A196T|FMN2_uc010pyg.1_Missense_Mutation_p.A146T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1550	FH2.				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)			TCATTAGGATGCTGGAAAAGA	0.343												
CEP170	9859	broad.mit.edu	37	1	243303329	243303329	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:243303329G>C	uc001hzs.2	-	16	4548	c.4140C>G	c.(4138-4140)AAC>AAG	p.N1380K	CEP170_uc001hzt.2_Missense_Mutation_p.N1256K|CEP170_uc001hzu.2_Missense_Mutation_p.N1282K|CEP170_uc001hzr.2_5'UTR|CEP170_uc001hzv.1_Missense_Mutation_p.N732K	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1380	Targeting to microtubules.|Targeting to centrosomes.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCGACCGTTGTTTCCTTCTG	0.453												
CNST	163882	broad.mit.edu	37	1	246755193	246755193	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:246755193G>A	uc001ibp.2	+	2	707	c.329G>A	c.(328-330)GGA>GAA	p.G110E	CNST_uc001ibo.3_Missense_Mutation_p.G110E	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	110					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						AAAATTCCTGGAAAAAGAAGT	0.388												
TRIM58	25893	broad.mit.edu	37	1	248020689	248020689	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:248020689G>A	uc001ido.2	+	1	189	c.141G>A	c.(139-141)TCG>TCA	p.S47S		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	47	RING-type.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCGAGAAGTCGGACGGCGCGC	0.711												
ZNF672	79894	broad.mit.edu	37	1	249142519	249142519	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:249142519C>T	uc001iex.2	+	4	1741	c.1046C>T	c.(1045-1047)ACG>ATG	p.T349M		NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	zinc finger protein 672	349	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AAGCGGTTCACGTGCGTGTCC	0.657												
ZMYND11	10771	broad.mit.edu	37	10	298396	298396	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:298396C>T	uc010pzt.1	+	15	2223	c.1795C>T	c.(1795-1797)CGC>TGC	p.R599C	ZMYND11_uc010pzu.1_Missense_Mutation_p.R599C|ZMYND11_uc010pzv.1_Missense_Mutation_p.R544C|ZMYND11_uc010pzw.1_Missense_Mutation_p.R514C|ZMYND11_uc001ifm.2_Missense_Mutation_p.R545C|ZMYND11_uc009xhg.2_Missense_Mutation_p.R582C|ZMYND11_uc009xhh.2_Missense_Mutation_p.R473C|ZMYND11_uc010pzy.1_Missense_Mutation_p.R451C	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	559					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCGCACCTGCCGCCGGAAAAG	0.537												
PFKP	5214	broad.mit.edu	37	10	3151664	3151664	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:3151664G>A	uc001igp.2	+	10	1117	c.1081G>A	c.(1081-1083)GTG>ATG	p.V361M	PFKP_uc001igq.2_Missense_Mutation_p.V353M|PFKP_uc009xhr.2_Missense_Mutation_p.V323M|PFKP_uc009xhs.1_Missense_Mutation_p.V145M|PFKP_uc009xht.2_Missense_Mutation_p.V99M	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	361					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GATGGAGTGCGTGCAGATGGT	0.667												
SFMBT2	57713	broad.mit.edu	37	10	7409683	7409683	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:7409683C>T	uc009xio.1	-	4	455	c.364G>A	c.(364-366)GAC>AAC	p.D122N	SFMBT2_uc001ijn.1_Missense_Mutation_p.D122N|SFMBT2_uc010qay.1_Missense_Mutation_p.D122N|SFMBT2_uc001ijo.1_Missense_Mutation_p.D122N	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	122	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						ATGACTACGTCACACCAGAAG	0.607												
ITIH5	80760	broad.mit.edu	37	10	7618941	7618941	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:7618941C>T	uc001ijq.2	-	10	1532	c.1453G>A	c.(1453-1455)GAC>AAC	p.D485N	ITIH5_uc001ijp.2_Missense_Mutation_p.D271N|ITIH5_uc001ijr.1_Missense_Mutation_p.D485N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	485					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						ATGCGGATGTCAGAGAGGAGC	0.587												
GATA3	2625	broad.mit.edu	37	10	8097849	8097849	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:8097849G>A	uc001ika.2	+	2	788	c.231G>A	c.(229-231)CCG>CCA	p.P77P	FLJ45983_uc010qbe.1_5'Flank|FLJ45983_uc001ijx.1_5'Flank|FLJ45983_uc010qbf.1_5'Flank|FLJ45983_uc010qbg.1_5'Flank|FLJ45983_uc001ijy.1_5'Flank|GATA3_uc001ijz.2_Silent_p.P77P	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	77					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						GGTACCCTCCGACCCACCACG	0.697			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)					
CDC123	8872	broad.mit.edu	37	10	12279206	12279206	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:12279206G>A	uc001ill.2	+	9	913	c.629G>A	c.(628-630)CGC>CAC	p.R210H	CDC123_uc001ilm.2_Missense_Mutation_p.R222H	NM_006023	NP_006014	O75794	CD123_HUMAN	cell division cycle 123	210					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)	1						GAAGAAATTCGCAGATGCATA	0.279												
STAM	8027	broad.mit.edu	37	10	17742265	17742265	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:17742265C>T	uc001ipj.1	+	9	1115	c.899C>T	c.(898-900)GCC>GTC	p.A300V	STAM_uc010qcf.1_Missense_Mutation_p.A189V|STAM_uc009xjw.1_5'UTR	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	300					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	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						CCGGAACCAGCCTTTATTGAT	0.333												
SLC39A12	221074	broad.mit.edu	37	10	18250727	18250727	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:18250727C>A	uc001ipo.2	+	3	752	c.479C>A	c.(478-480)TCA>TAA	p.S160*	SLC39A12_uc001ipn.2_Nonsense_Mutation_p.S160*|SLC39A12_uc001ipp.2_Nonsense_Mutation_p.S160*|SLC39A12_uc010qck.1_Nonsense_Mutation_p.S26*	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	160	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TCTTTCCTTTCACAGAATGAG	0.418												
CACNB2	783	broad.mit.edu	37	10	18690913	18690913	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:18690913C>T	uc001ipr.2	+	3	334	c.274C>T	c.(274-276)CGG>TGG	p.R92W	CACNB2_uc009xjz.1_Missense_Mutation_p.R92W|CACNB2_uc001ips.2_Missense_Mutation_p.R92W|CACNB2_uc001ipt.2_Missense_Mutation_p.R92W|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.R64W|CACNB2_uc001ipv.2_Missense_Mutation_p.R64W|CACNB2_uc009xka.1_Missense_Mutation_p.R64W|CACNB2_uc001ipw.2_Missense_Mutation_p.R37W|CACNB2_uc001ipx.2_Missense_Mutation_p.R37W|CACNB2_uc009xkb.1_Missense_Mutation_p.R38W|CACNB2_uc010qcm.1_Missense_Mutation_p.R38W|CACNB2_uc001ipz.2_Missense_Mutation_p.R38W|CACNB2_uc001ipy.2_Missense_Mutation_p.R38W|CACNB2_uc010qcn.1_Missense_Mutation_p.R44W|CACNB2_uc010qco.1_Missense_Mutation_p.R44W|CACNB2_uc001iqa.2_Missense_Mutation_p.R44W	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	92					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGAGGAGGACCGGGAGGCAGT	0.512												
KIAA1462	57608	broad.mit.edu	37	10	30316721	30316721	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:30316721C>T	uc001iux.2	-	2	2415	c.2356G>A	c.(2356-2358)GTG>ATG	p.V786M	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.V648M|KIAA1462_uc009xle.1_Missense_Mutation_p.V786M	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	786										ovary(4)	4						TGGACATCCACGCAGGGCTGA	0.617												
CREM	1390	broad.mit.edu	37	10	35495867	35495867	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:35495867G>A	uc001iyb.2	+	7	805	c.643G>A	c.(643-645)GCT>ACT	p.A215T	CREM_uc001ixy.2_Missense_Mutation_p.A11T|CREM_uc001ixz.2_Missense_Mutation_p.A11T|CREM_uc001iya.2_Missense_Mutation_p.A164T|CREM_uc001iyc.2_Missense_Mutation_p.A136T|CREM_uc001iyd.2_Missense_Mutation_p.A215T|CREM_uc001iye.2_Missense_Mutation_p.A152T|CREM_uc001iyf.2_Missense_Mutation_p.A185T|CREM_uc001iyg.2_Missense_Mutation_p.A122T|CREM_uc001iyh.2_Missense_Mutation_p.A160T|CREM_uc001iyi.2_Missense_Mutation_p.A97T|CREM_uc001iyj.2_Missense_Mutation_p.A94T|CREM_uc001iyk.2_Missense_Mutation_p.A94T|CREM_uc001iyl.2_Missense_Mutation_p.A36T|CREM_uc001iym.2_Missense_Mutation_p.A36T|CREM_uc001iyn.2_Missense_Mutation_p.A24T|CREM_uc001iyo.2_Missense_Mutation_p.A24T|CREM_uc001iyp.2_Missense_Mutation_p.A18T|CREM_uc001iyq.2_Missense_Mutation_p.A28T|CREM_uc001iyr.2_Missense_Mutation_p.A28T|CREM_uc001iys.2_Missense_Mutation_p.A11T|CREM_uc001iyt.2_Missense_Mutation_p.A11T	NM_181571	NP_853549	Q03060	CREM_HUMAN	cAMP responsive element modulator isoform a	276					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCTCCTACTGCTGCTTTGCC	0.483												
ZNF37A	7587	broad.mit.edu	37	10	38407134	38407134	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:38407134A>T	uc001izk.2	+	8	1874	c.1055A>T	c.(1054-1056)GAG>GTG	p.E352V	ZNF37A_uc001izl.2_Missense_Mutation_p.E352V|ZNF37A_uc001izm.2_Missense_Mutation_p.E352V	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	352						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						CACACAGGGGAGAAACCATAT	0.428												
ALOX5	240	broad.mit.edu	37	10	45938635	45938635	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:45938635C>T	uc001jce.2	+	10	1521	c.1422C>T	c.(1420-1422)GAC>GAT	p.D474D	ALOX5_uc009xmt.2_Silent_p.D442D|ALOX5_uc010qfg.1_Silent_p.D474D	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	474	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	ACCGGGACGACGGGCTCCTGG	0.667												
SYT15	83849	broad.mit.edu	37	10	46962096	46962096	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:46962096G>A	uc001jea.2	-	8	1293	c.1140C>T	c.(1138-1140)GGC>GGT	p.G380G	SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.2_Silent_p.G258G|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	380	Cytoplasmic (Potential).|C2 2.					integral to membrane|plasma membrane					0						CCACCACTCGGCCCAGCTGCT	0.657												
GPRIN2	9721	broad.mit.edu	37	10	47000062	47000062	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:47000062C>T	uc001jec.2	+	3	1317	c.1182C>T	c.(1180-1182)TAC>TAT	p.Y394Y	GPRIN2_uc010qfq.1_Silent_p.Y157Y	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	394											0						GGGAGGTGTACGGAGCTGCGG	0.647												
ARHGAP22	58504	broad.mit.edu	37	10	49658466	49658466	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:49658466C>T	uc001jgt.2	-	9	2003	c.1706G>A	c.(1705-1707)AGC>AAC	p.S569N	ARHGAP22_uc001jgs.2_Missense_Mutation_p.S479N|ARHGAP22_uc001jgu.2_Missense_Mutation_p.S585N|ARHGAP22_uc010qgl.1_Missense_Mutation_p.S526N|ARHGAP22_uc010qgm.1_Missense_Mutation_p.S575N|ARHGAP22_uc001jgv.2_Missense_Mutation_p.S267N|ARHGAP22_uc001jgr.2_Missense_Mutation_p.S286N	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	569	Ser-rich.				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						CTCGTCCATGCTGTGGTCCAG	0.726												
AIFM2	84883	broad.mit.edu	37	10	71883164	71883164	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:71883164G>A	uc010qjg.1	-	2	304	c.291C>T	c.(289-291)GGC>GGT	p.G97G	AIFM2_uc001jqp.1_Silent_p.G97G	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor (AIF)-like	97					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)	1						CACTCACCTCGCCACCCTGCA	0.567												
ADAMTS14	140766	broad.mit.edu	37	10	72498695	72498695	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:72498695G>A	uc001jrh.2	+	11	1697	c.1697G>A	c.(1696-1698)CGG>CAG	p.R566Q	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R569Q|ADAMTS14_uc001jri.1_Missense_Mutation_p.R89Q	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	566	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						TCATGTTCGCGGTCATGTGGG	0.637												
ASCC1	51008	broad.mit.edu	37	10	73963225	73963225	+	Silent	SNP	A	A	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:73963225A>C	uc001jst.1	-	5	462	c.354T>G	c.(352-354)ACT>ACG	p.T118T	ASCC1_uc001jsr.1_Silent_p.T5T|ASCC1_uc001jss.1_Silent_p.T90T|ASCC1_uc001jsu.1_Silent_p.T90T|ASCC1_uc010qju.1_Silent_p.T111T			Q8N9N2	ASCC1_HUMAN	RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50;	118	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding				0						TGCTAATAGAAGTTTTGGTCT	0.343												
OIT3	170392	broad.mit.edu	37	10	74692258	74692258	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:74692258G>A	uc001jte.1	+	9	1832	c.1614G>A	c.(1612-1614)CCG>CCA	p.P538P	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	538						nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					CAGGCGGCCCGATCCGCATCG	0.637												
KIAA0913	23053	broad.mit.edu	37	10	75558820	75558820	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:75558820G>A	uc009xrl.2	+	21	4254	c.4222G>A	c.(4222-4224)GTG>ATG	p.V1408M	KIAA0913_uc001jve.2_Missense_Mutation_p.V1413M|KIAA0913_uc001jvf.2_Intron|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.V843M|KIAA0913_uc010qkr.1_Missense_Mutation_p.V831M|KIAA0913_uc001jvj.2_Missense_Mutation_p.V831M|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1408							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GGGTGGGGGCGTGTACCCTGA	0.567												
ZMIZ1	57178	broad.mit.edu	37	10	81050777	81050777	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:81050777C>T	uc001kaf.2	+	10	1174	c.602C>T	c.(601-603)GCG>GTG	p.A201V	ZMIZ1_uc001kag.2_Missense_Mutation_p.A77V|ZMIZ1_uc001kah.1_Missense_Mutation_p.A77V	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	201					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AACCCCATGGCGTCGGGCATG	0.617												
MYOF	26509	broad.mit.edu	37	10	95155899	95155899	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:95155899C>T	uc001kin.2	-	16	1540	c.1417G>A	c.(1417-1419)GAT>AAT	p.D473N	MYOF_uc001kio.2_Missense_Mutation_p.V473I	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	473	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						AGTGACTTACCTTCCACTTCC	0.403												
GPR120	338557	broad.mit.edu	37	10	95327000	95327000	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:95327000G>A	uc010qnt.1	+	1	579	c.523G>A	c.(523-525)GTC>ATC	p.V175I	GPR120_uc010qnu.1_Missense_Mutation_p.V175I	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	G protein-coupled receptor 120	175	Helical; Name=4; (Potential).				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding				0		Colorectal(252;0.122)				GCCTCTCTGCGTCTTCTTCCG	0.741												
CCNJ	54619	broad.mit.edu	37	10	97816675	97816675	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:97816675C>T	uc001klm.2	+	4	857	c.498C>T	c.(496-498)GAC>GAT	p.D166D	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Silent_p.D166D|CCNJ_uc001kln.2_Silent_p.D166D	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	166						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		ATCTTCATGACGGCTGGCCAA	0.418												
ZFYVE27	118813	broad.mit.edu	37	10	99509312	99509312	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:99509312G>A	uc001koo.2	+	6	833	c.633G>A	c.(631-633)ACG>ACA	p.T211T	ZFYVE27_uc001kon.2_Silent_p.T211T|ZFYVE27_uc001koq.2_Silent_p.T125T|ZFYVE27_uc010qpa.1_Silent_p.T93T|ZFYVE27_uc001kop.2_Silent_p.T211T|ZFYVE27_uc010qpb.1_Silent_p.T113T|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Silent_p.T179T|ZFYVE27_uc001kok.1_RNA|ZFYVE27_uc001kol.1_Silent_p.T211T|ZFYVE27_uc001kom.1_Silent_p.T211T	NM_144588	NP_653189	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27 isoform	211	Extracellular (Potential).				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TAAACAGCACGCTCTTTCTGG	0.557												
PYROXD2	84795	broad.mit.edu	37	10	100159860	100159860	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:100159860T>C	uc001kpc.2	-	5	556	c.470A>G	c.(469-471)CAG>CGG	p.Q157R	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Missense_Mutation_p.Q157R	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	157							oxidoreductase activity			central_nervous_system(1)	1						CTTCCCTACCTGGGCATCCTT	0.572												
NKX2-3	159296	broad.mit.edu	37	10	101295042	101295042	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:101295042C>T	uc009xwj.2	+	2	858	c.659C>T	c.(658-660)CCG>CTG	p.P220L		NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	220	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		CAcgcgcccccgccgccgccg	0.557												
DNMBP	23268	broad.mit.edu	37	10	101637006	101637006	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:101637006T>C	uc001kqj.2	-	17	4728	c.4636A>G	c.(4636-4638)AAA>GAA	p.K1546E	DNMBP_uc010qpl.1_Missense_Mutation_p.K482E|DNMBP_uc001kqg.2_Missense_Mutation_p.K834E|DNMBP_uc001kqh.2_Missense_Mutation_p.K1178E	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1546	SH3 6.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GTAACATCTTTAAACTCGAGG	0.473												
SEC31B	25956	broad.mit.edu	37	10	102248625	102248625	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:102248625G>A	uc001krc.1	-	24	3380	c.3278C>T	c.(3277-3279)GCA>GTA	p.A1093V	SEC31B_uc010qpo.1_Missense_Mutation_p.A1092V|SEC31B_uc001krd.1_Missense_Mutation_p.A630V|SEC31B_uc001krf.1_Missense_Mutation_p.A526V|SEC31B_uc001kre.1_Missense_Mutation_p.A525V	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	1093					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TAAGTCAGTTGCAGACAGGGA	0.572												
MGEA5	10724	broad.mit.edu	37	10	103558759	103558759	+	Missense_Mutation	SNP	G	G	A	rs149208353	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:103558759G>A	uc001ktv.2	-	9	2092	c.1649C>T	c.(1648-1650)GCG>GTG	p.A550V	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.A497V|MGEA5_uc009xws.2_Missense_Mutation_p.A497V|MGEA5_uc001ktw.2_Missense_Mutation_p.A550V|MGEA5_uc009xwt.2_Missense_Mutation_p.A313V	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	550					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CACTGGTTCCGCAGTGTACAA	0.453												
NEURL	9148	broad.mit.edu	37	10	105349958	105349958	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:105349958C>T	uc001kxh.2	+	6	1964	c.1554C>T	c.(1552-1554)AGC>AGT	p.S518S	SH3PXD2A_uc010qqr.1_Intron	NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	518					nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCCAGTGGAGCGATGAGTGCA	0.622												
SH3PXD2A	9644	broad.mit.edu	37	10	105362048	105362048	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:105362048G>A	uc001kxj.1	-	14	2983	c.2843C>T	c.(2842-2844)GCG>GTG	p.A948V	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.A783V|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.A825V|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.A783V|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.A891V	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	976					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGGCCTGACCGCCACCTGCCG	0.652												
SORCS1	114815	broad.mit.edu	37	10	108412225	108412225	+	Missense_Mutation	SNP	G	G	A	rs146666715		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:108412225G>A	uc001kym.2	-	18	2398	c.2390C>T	c.(2389-2391)CCG>CTG	p.P797L	SORCS1_uc001kyl.2_Missense_Mutation_p.P797L|SORCS1_uc009xxs.2_Missense_Mutation_p.P797L|SORCS1_uc001kyn.1_Missense_Mutation_p.P797L|SORCS1_uc001kyo.2_Missense_Mutation_p.P797L	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	797	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAGCCCCCGCGGGGCTTTCCC	0.512												
PDCD4	27250	broad.mit.edu	37	10	112641196	112641196	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:112641196C>T	uc001kzh.2	+	3	492	c.249C>T	c.(247-249)GAC>GAT	p.D83D	PDCD4_uc001kzg.2_Silent_p.D72D|PDCD4_uc010qre.1_Silent_p.D69D	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	83					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GTGGGAGTGACGCCCTTAGAA	0.502												
ABLIM1	3983	broad.mit.edu	37	10	116417742	116417742	+	Missense_Mutation	SNP	C	C	T	rs146399793	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:116417742C>T	uc010qsg.1	-	1	317	c.218G>A	c.(217-219)CGT>CAT	p.R73H	ABLIM1_uc010qsh.1_Intron|ABLIM1_uc010qsi.1_Intron|ABLIM1_uc009xyp.2_Intron|ABLIM1_uc001lbz.1_Intron	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	73					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTTACATACACGCCCACGTGG	0.483												
SLC18A2	6571	broad.mit.edu	37	10	119001232	119001232	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:119001232C>T	uc001ldd.1	+	2	59	c.28C>T	c.(28-30)CGC>TGC	p.R10C	SLC18A2_uc009xyy.1_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	10	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GGCGCTGGTCCGCTGGCTGCA	0.697												
GRK5	2869	broad.mit.edu	37	10	121212266	121212266	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:121212266C>T	uc001led.2	+	14	1721	c.1488C>T	c.(1486-1488)GAC>GAT	p.D496D	GRK5_uc009xzh.2_Silent_p.D361D	NM_005308	NP_005299	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	496	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			lung(2)|stomach(1)	3		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		ACACAGACGACGACTTCTACT	0.597												
C10orf119	79892	broad.mit.edu	37	10	121591584	121591584	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:121591584C>T	uc001ler.2	-	15	2040	c.1742G>A	c.(1741-1743)CGG>CAG	p.R581Q	C10orf119_uc001leq.1_Missense_Mutation_p.R406Q|C10orf119_uc001les.1_Missense_Mutation_p.R406Q	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	chromosome 10 open reading frame 119	581					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding				0		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.0044)		GTCGTTCTTCCGCATTTCCAC	0.428												
ATE1	11101	broad.mit.edu	37	10	123600666	123600666	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:123600666A>T	uc001lfp.2	-	9	1170	c.1088T>A	c.(1087-1089)GTA>GAA	p.V363E	ATE1_uc001lfq.2_Missense_Mutation_p.V363E|ATE1_uc010qtr.1_Missense_Mutation_p.V248E|ATE1_uc010qts.1_Missense_Mutation_p.V267E|ATE1_uc010qtt.1_Missense_Mutation_p.V356E|ATE1_uc001lfr.2_Missense_Mutation_p.V64E|ATE1_uc009xzu.2_RNA	NM_007041	NP_008972	O95260	ATE1_HUMAN	arginyltransferase 1 isoform 2	363					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity				0		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CACAGATGATACACAGTTTGG	0.458												
BUB3	9184	broad.mit.edu	37	10	124914569	124914569	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:124914569G>A	uc001lhe.2	+	2	378	c.136G>A	c.(136-138)GCC>ACC	p.A46T	BUB3_uc009yah.2_5'UTR|BUB3_uc001lhf.3_Missense_Mutation_p.A46T|BUB3_uc001lhd.2_Missense_Mutation_p.A46T|BUB3_uc010qud.1_Intron	NM_004725	NP_004716	O43684	BUB3_HUMAN	budding uninhibited by benzimidazoles 3 isoform	46	WD 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			ovary(1)	1		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CGATGTGCCGGCCAACTCCAT	0.627												
MMP21	118856	broad.mit.edu	37	10	127462424	127462424	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:127462424C>T	uc001liu.2	-	2	673	c.673G>A	c.(673-675)GAC>AAC	p.D225N		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	225					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGCTTGATGTCGACCGCGGCC	0.736												
UROS	7390	broad.mit.edu	37	10	127477547	127477547	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:127477547G>A	uc001liw.3	-	9	821	c.688C>T	c.(688-690)CGC>TGC	p.R230C	UROS_uc001liv.3_Missense_Mutation_p.R163C|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.R230C|UROS_uc001liy.3_RNA	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	230					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GCCAGCGCGCGAGCCGTAGTG	0.637												
BCCIP	56647	broad.mit.edu	37	10	127524804	127524804	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:127524804C>T	uc001ljb.3	+	7	929	c.906C>T	c.(904-906)AAC>AAT	p.N302N	BCCIP_uc001ljd.3_Intron|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A-interacting protein isoform	302					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			ovary(1)|breast(1)	2		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACAAGATGAACGAAATCATGG	0.428												
MKI67	4288	broad.mit.edu	37	10	129905283	129905283	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:129905283G>A	uc001lke.2	-	13	5016	c.4821C>T	c.(4819-4821)AAC>AAT	p.N1607N	MKI67_uc001lkf.2_Silent_p.N1247N|MKI67_uc009yav.1_Silent_p.N1182N|MKI67_uc009yaw.1_Silent_p.N757N	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1607	16 X 122 AA approximate repeats.				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)				CAGTTTTATCGTTAGTCATTG	0.502												
TCERG1L	256536	broad.mit.edu	37	10	132891537	132891537	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:132891537C>A	uc001lkp.2	-	12	1735	c.1649G>T	c.(1648-1650)AGG>ATG	p.R550M		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	550	FF 2.									large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AAGTCGGAACCTCTGATCCCG	0.453												
TCERG1L	256536	broad.mit.edu	37	10	132944790	132944790	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:132944790G>A	uc001lkp.2	-	7	1254	c.1168C>T	c.(1168-1170)CGC>TGC	p.R390C	TCERG1L_uc009yax.1_RNA	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	390										large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCCAGCTTGCGTTTGTGGGGC	0.498												
PPP2R2D	55844	broad.mit.edu	37	10	133769241	133769241	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:133769241C>T	uc001lks.2	+	7	1280	c.1037C>T	c.(1036-1038)ACG>ATG	p.T346M	PPP2R2D_uc001lkr.2_Missense_Mutation_p.T152M|PPP2R2D_uc001lkt.2_Missense_Mutation_p.T152M|PPP2R2D_uc009yay.2_Missense_Mutation_p.T214M	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	379	WD 6.				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GATAGAGACACGCGGAGGGAT	0.582												
PWWP2B	170394	broad.mit.edu	37	10	134218962	134218962	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:134218962C>T	uc001lll.3	+	2	987	c.958C>T	c.(958-960)CGG>TGG	p.R320W	PWWP2B_uc009ybe.2_Missense_Mutation_p.R320W	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	320											0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GAAACTGACACGGCCTGTGCC	0.721												
KNDC1	85442	broad.mit.edu	37	10	135025243	135025243	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:135025243C>T	uc001llz.1	+	23	4118	c.4117C>T	c.(4117-4119)CGG>TGG	p.R1373W		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1373					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGCATGGACCGGCGGGCCGA	0.662												
CDHR5	53841	broad.mit.edu	37	11	619088	619088	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:619088G>C	uc001lqj.2	-	13	1576	c.1471C>G	c.(1471-1473)CCC>GCC	p.P491A	CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Missense_Mutation_p.P325A|CDHR5_uc009ycd.2_Missense_Mutation_p.P485A|CDHR5_uc001lql.2_Missense_Mutation_p.P491A	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	491	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GTCGTGGAGGGTCCCTGGGAG	0.701												
EFCAB4A	283229	broad.mit.edu	37	11	831623	831623	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:831623C>T	uc001lrv.2	+	9	1492	c.1114C>T	c.(1114-1116)CGC>TGC	p.R372C	EFCAB4A_uc009ycm.1_3'UTR|EFCAB4A_uc001lrw.2_Missense_Mutation_p.R437C|CD151_uc001lrx.2_5'Flank|CD151_uc001lry.2_5'Flank|CD151_uc001lrz.2_5'Flank|CD151_uc001lsa.2_5'Flank|CD151_uc001lsb.2_5'Flank			Q8N4Y2	EFC4A_HUMAN	RecName: Full=EF-hand calcium-binding domain-containing protein 4A;	372					store-operated calcium entry		calcium ion binding				0		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACAACAGCCCGCCTGCCTGG	0.701												
MUC6	4588	broad.mit.edu	37	11	1026075	1026075	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:1026075G>A	uc001lsw.2	-	21	2664	c.2613C>T	c.(2611-2613)TAC>TAT	p.Y871Y		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	871	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCCCTCCCCGTAGAGGGTGC	0.662												
MUC2	4583	broad.mit.edu	37	11	1098738	1098738	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:1098738G>A	uc001lsx.1	+	40	14221	c.14194G>A	c.(14194-14196)GCC>ACC	p.A4732T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4732						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)	CCTGGAGTGCGCCAGTCTGCA	0.652												
MUC5B	727897	broad.mit.edu	37	11	1266656	1266656	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:1266656G>A	uc009ycr.1	+	49	10421	c.10295G>A	c.(10294-10296)CGC>CAC	p.R3432H	MUC5B_uc001ltb.2_Missense_Mutation_p.R2852H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2849	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	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)		AGCAAGACCCGCACCTCGACC	0.687												
ART1	417	broad.mit.edu	37	11	3681156	3681156	+	Missense_Mutation	SNP	G	G	A	rs148703944	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:3681156G>A	uc001lye.1	+	3	508	c.407G>A	c.(406-408)CGT>CAT	p.R136H	ART1_uc009yeb.1_Missense_Mutation_p.R136H	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	136					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GCAGCCGTGCGTGAGGCGGGC	0.667												
ART1	417	broad.mit.edu	37	11	3681163	3681163	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:3681163G>A	uc001lye.1	+	3	515	c.414G>A	c.(412-414)GCG>GCA	p.A138A	ART1_uc009yeb.1_Silent_p.A138A	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	138					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	TGCGTGAGGCGGGCCGCTCCC	0.667												
OR51F2	119694	broad.mit.edu	37	11	4843637	4843637	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:4843637A>G	uc010qyn.1	+	1	1022	c.1022A>G	c.(1021-1023)TAT>TGT	p.Y341C		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	341	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGCCATTTATGAATAAGTG	0.353												
OR51I1	390063	broad.mit.edu	37	11	5462477	5462477	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:5462477T>C	uc010qze.1	-	1	268	c.268A>G	c.(268-270)AAC>GAC	p.N90D	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTGTAGTTGAAGCAGAAA	0.468												
PIK3C2A	5286	broad.mit.edu	37	11	17143869	17143869	+	Silent	SNP	A	A	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:17143869A>C	uc001mmq.3	-	14	2589	c.2523T>G	c.(2521-2523)CCT>CCG	p.P841P	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.P461P|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	841					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	ATGCAGGAGAAGGAAAATCAA	0.299												
USH1C	10083	broad.mit.edu	37	11	17522630	17522630	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:17522630G>A	uc001mnf.2	-	18	1557	c.1448C>T	c.(1447-1449)GCT>GTT	p.A483V	USH1C_uc001mne.2_Missense_Mutation_p.A783V|USH1C_uc009yhb.2_Missense_Mutation_p.A464V|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.A447V	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	483	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1						CTCATACACAGCAGAAACGAC	0.592												
MYOD1	4654	broad.mit.edu	37	11	17741783	17741783	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:17741783A>G	uc001mni.2	+	1	674	c.454A>G	c.(454-456)AAC>GAC	p.N152D		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	152	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						GATCCTGCGCAACGCCATCCG	0.592												
PTPN5	84867	broad.mit.edu	37	11	18765600	18765600	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:18765600G>T	uc001mpd.2	-	4	675	c.244C>A	c.(244-246)CTC>ATC	p.L82I	PTPN5_uc001mpb.2_Missense_Mutation_p.L82I|PTPN5_uc001mpc.2_Missense_Mutation_p.L82I|PTPN5_uc001mpe.2_Missense_Mutation_p.L82I|PTPN5_uc010rdj.1_Missense_Mutation_p.L58I|PTPN5_uc001mpf.2_Missense_Mutation_p.L58I|PTPN5_uc010rdk.1_Missense_Mutation_p.L27I	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	82						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						CTGACAGTGAGGGAGTGGCTC	0.652												
NAV2	89797	broad.mit.edu	37	11	19901479	19901479	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:19901479G>A	uc010rdm.1	+	5	937	c.576G>A	c.(574-576)CAG>CAA	p.Q192Q	NAV2_uc001mpp.2_Silent_p.Q128Q|NAV2_uc001mpr.3_Silent_p.Q192Q	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	192	CH.|Gln-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GATACAagcagcagcagcagc	0.507												
LUZP2	338645	broad.mit.edu	37	11	25004729	25004729	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:25004729C>T	uc001mqs.2	+	9	889	c.655C>T	c.(655-657)CGT>TGT	p.R219C	LUZP2_uc009yif.2_Missense_Mutation_p.R133C|LUZP2_uc009yig.2_Missense_Mutation_p.R177C	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	219						extracellular region				ovary(1)|skin(1)	2						ATCTGTTTTCCGTGATCAGCC	0.438												
KCNA4	3739	broad.mit.edu	37	11	30033224	30033224	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:30033224G>A	uc001msk.2	-	2	2154	c.1002C>T	c.(1000-1002)GAC>GAT	p.D334D		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	334						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GATCCCTGTCGTCCCTAAACT	0.517												
TP53I11	9537	broad.mit.edu	37	11	44957180	44957180	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:44957180G>A	uc001myi.2	-	9	973	c.368C>T	c.(367-369)ACG>ATG	p.T123M	TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Missense_Mutation_p.T123M|TP53I11_uc001myk.2_Missense_Mutation_p.T123M|TP53I11_uc001myl.2_Missense_Mutation_p.T123M|TP53I11_uc001mym.2_Missense_Mutation_p.T70M	NM_006034	NP_006025	O14683	P5I11_HUMAN	p53-induced protein	123	Helical; (Potential).				negative regulation of cell proliferation|response to stress	integral to membrane				ovary(1)	1						CTTCTCAGCCGTGTAGAGAGC	0.612												
SLC35C1	55343	broad.mit.edu	37	11	45827874	45827874	+	Silent	SNP	C	C	T	rs141379070	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:45827874C>T	uc001nbp.2	+	1	1234	c.522C>T	c.(520-522)TGC>TGT	p.C174C	SLC35C1_uc001nbo.2_Silent_p.C161C|SLC35C1_uc010rgm.1_Silent_p.C161C	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN	GDP-fucose transporter 1 isoform a	174	Helical; (Potential).					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity				0				GBM - Glioblastoma multiforme(35;0.227)		TGCTCACCTGCGGTATCATCA	0.522												
KBTBD4	55709	broad.mit.edu	37	11	47599371	47599371	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:47599371G>T	uc001nfx.2	-	2	352	c.181C>A	c.(181-183)CTG>ATG	p.L61M	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.L86M|KBTBD4_uc001nfz.2_Missense_Mutation_p.L77M|KBTBD4_uc001nfy.2_Missense_Mutation_p.L61M|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	61	BTB.									ovary(1)|central_nervous_system(1)	2						GAGAGGACCAGCCGATGGAGC	0.557												
OR5D18	219438	broad.mit.edu	37	11	55587822	55587822	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:55587822C>T	uc010rin.1	+	1	717	c.717C>T	c.(715-717)TTC>TTT	p.F239F		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				GCAAAGCCTTCTCCACCTGTG	0.498												
OR5M9	390162	broad.mit.edu	37	11	56229955	56229955	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:56229955A>G	uc010rjj.1	-	1	923	c.923T>C	c.(922-924)GTG>GCG	p.V308A		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					TTACTGCCTCACATATGTCTT	0.358												
OR5M10	390167	broad.mit.edu	37	11	56345173	56345173	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:56345173C>T	uc001niz.1	-	1	25	c.25G>A	c.(25-27)GTG>ATG	p.V9M		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AATTCTGTCACTATGGTGTGG	0.428												
APLNR	187	broad.mit.edu	37	11	57003530	57003530	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:57003530G>A	uc001njo.2	-	1	1398	c.949C>T	c.(949-951)CGC>TGC	p.R317C	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	317	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						CAGGCCTGGCGGAAGCGGGGG	0.602												
PATL1	219988	broad.mit.edu	37	11	59421493	59421493	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:59421493G>A	uc001noe.3	-	9	1227	c.1084C>T	c.(1084-1086)CGT>TGT	p.R362C	PATL1_uc009yms.1_Missense_Mutation_p.R332C|PATL1_uc010rkw.1_Missense_Mutation_p.R67C	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	362	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						AAGAGTCGACGGTGCTGTGGA	0.423												
INCENP	3619	broad.mit.edu	37	11	61895678	61895678	+	Silent	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:61895678T>C	uc001nsw.1	+	2	247	c.45T>C	c.(43-45)TGT>TGC	p.C15C	INCENP_uc009ynv.2_Silent_p.C15C|INCENP_uc009ynw.1_Silent_p.C15C|INCENP_uc001nsx.1_Silent_p.C15C	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	15					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						TGGAGCTATGTGACCAGAAGC	0.562												
GPR137	56834	broad.mit.edu	37	11	64054075	64054075	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:64054075A>G	uc001nzg.1	+	2	387	c.79A>G	c.(79-81)ACA>GCA	p.T27A	BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Missense_Mutation_p.T33A|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Missense_Mutation_p.T85A|GPR137_uc001nze.1_Missense_Mutation_p.T27A|GPR137_uc001nzf.2_Missense_Mutation_p.T27A|GPR137_uc001nzh.1_Missense_Mutation_p.T27A|GPR137_uc001nzi.2_Missense_Mutation_p.T27A|GPR137_uc010rnj.1_Missense_Mutation_p.T27A	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	27	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						CCTGGGGCTGACAGCTGCCTA	0.617												
PPP2R5B	5526	broad.mit.edu	37	11	64701224	64701224	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:64701224C>T	uc001oby.2	+	14	1987	c.1402C>T	c.(1402-1404)CGG>TGG	p.R468W	PPP2R5B_uc001obz.2_Missense_Mutation_p.R468W	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	468					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						GGAGGAGCTGCGGCTACGCCG	0.692												
CAPN1	823	broad.mit.edu	37	11	64972252	64972252	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:64972252G>A	uc009yqd.1	+	11	1375	c.1264G>A	c.(1264-1266)GCC>ACC	p.A422T	CAPN1_uc001odf.1_Missense_Mutation_p.A422T|CAPN1_uc001odg.1_Missense_Mutation_p.A422T|CAPN1_uc010roa.1_Missense_Mutation_p.A163T	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	422	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)		CTTCGTGCTCGCCCTTATGCA	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCNXL3	399909	broad.mit.edu	37	11	65386337	65386337	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:65386337C>T	uc001oey.2	+	6	1504	c.1504C>T	c.(1504-1506)CGT>TGT	p.R502C		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	502						integral to membrane		p.R383C(1)			0						AACACATGCCCGTGTGCTGAG	0.672												
CST6	1474	broad.mit.edu	37	11	65780296	65780296	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:65780296G>A	uc001ogr.2	+	2	295	c.241_splice	c.e2-1	p.L81_splice	CST6_uc001ogs.1_5'UTR	NM_001323	NP_001314	Q15828	CYTM_HUMAN	cystatin M precursor						anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1						TATGCCCCCAGCTGGTGGCCG	0.597												
SF3B2	10992	broad.mit.edu	37	11	65822672	65822672	+	Silent	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:65822672G>C	uc001ogy.1	+	4	424	c.384G>C	c.(382-384)GGG>GGC	p.G128G	SF3B2_uc001ogx.1_Silent_p.G128G	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	128					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						CAAATTTGGGGCCCCCGCCTC	0.657												
CD248	57124	broad.mit.edu	37	11	66082550	66082550	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66082550C>T	uc001ohm.1	-	1	1966	c.1949G>A	c.(1948-1950)GGC>GAC	p.G650D		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	650	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	GGGACTGGGGCCATCTTCCCT	0.642												
SLC29A2	3177	broad.mit.edu	37	11	66136992	66136992	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66136992C>T	uc001oht.2	-	3	352	c.123G>A	c.(121-123)GCG>GCA	p.A41A	SLC29A2_uc001ohs.2_5'UTR|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_5'UTR|SLC29A2_uc001ohu.2_Silent_p.A41A|SLC29A2_uc001ohv.2_Silent_p.A41A|uc001ohw.1_RNA	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	41					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						CGGCCAGTCGCGCCTGGAAGT	0.517												
PELI3	246330	broad.mit.edu	37	11	66238753	66238753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66238753C>T	uc001oic.3	+	4	429	c.265C>T	c.(265-267)CGA>TGA	p.R89*	PELI3_uc001oib.2_Nonsense_Mutation_p.R89*|PELI3_uc001oid.3_Nonsense_Mutation_p.R65*|PELI3_uc001oie.3_5'UTR|PELI3_uc010rpd.1_5'Flank	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	89						cytosol	protein binding			ovary(1)	1						GGGCCGCCGGCGAAGCCGCCT	0.602												
PELI3	246330	broad.mit.edu	37	11	66238826	66238826	+	Missense_Mutation	SNP	C	C	T	rs150549632		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66238826C>T	uc001oic.3	+	4	502	c.338C>T	c.(337-339)ACG>ATG	p.T113M	PELI3_uc001oib.2_Missense_Mutation_p.T113M|PELI3_uc001oid.3_Missense_Mutation_p.T89M|PELI3_uc001oie.3_Translation_Start_Site|PELI3_uc010rpd.1_5'Flank	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	113						cytosol	protein binding			ovary(1)	1						CACATCTCCACGCCGCTCGTC	0.672												
DPP3	10072	broad.mit.edu	37	11	66258805	66258805	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66258805A>G	uc001oig.1	+	7	811	c.749A>G	c.(748-750)GAC>GGC	p.D250G	DPP3_uc001oif.1_Missense_Mutation_p.D250G|DPP3_uc010rpe.1_Missense_Mutation_p.D239G	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	250					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						ACCCGGGGGGACTACGCGCCC	0.622											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPTBN2	6712	broad.mit.edu	37	11	66460058	66460058	+	Silent	SNP	G	G	A	rs146602750		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66460058G>A	uc001ojd.2	-	25	5211	c.5139C>T	c.(5137-5139)CGC>CGT	p.R1713R		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1713	Spectrin 14.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCACCACCTCGCGCTCCTGGA	0.667												
SPTBN2	6712	broad.mit.edu	37	11	66461675	66461675	+	Missense_Mutation	SNP	G	G	A	rs113974204		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66461675G>A	uc001ojd.2	-	21	4510	c.4438C>T	c.(4438-4440)CGC>TGC	p.R1480C		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1480	Spectrin 11.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CGCCGGCAGCGTTCCCGCATG	0.652											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PC	5091	broad.mit.edu	37	11	66618613	66618613	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66618613C>T	uc001ojn.1	-	15	2170	c.2121G>A	c.(2119-2121)ACG>ACA	p.T707T	PC_uc001ojo.1_Silent_p.T707T|PC_uc001ojp.1_Silent_p.T707T|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	707	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCACGTCGCCCGTGTATGAGA	0.617												
SYT12	91683	broad.mit.edu	37	11	66807455	66807455	+	Silent	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66807455C>A	uc009yrl.2	+	4	632	c.402C>A	c.(400-402)GCC>GCA	p.A134A	SYT12_uc001oju.2_Silent_p.A134A	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	134	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						CCCAGTCGGCCGACTCCCTGA	0.617												
IGHMBP2	3508	broad.mit.edu	37	11	68675696	68675696	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:68675696G>C	uc001ook.1	+	3	442	c.340G>C	c.(340-342)GTC>CTC	p.V114L	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	114					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCAGAAGTCGGTCACGGTGGC	0.517												
FGF4	2249	broad.mit.edu	37	11	69588116	69588116	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:69588116C>T	uc001opg.1	-	3	901	c.582G>A	c.(580-582)TCG>TCA	p.S194S	FGF4_uc010rqj.1_3'UTR	NM_002007	NP_001998	P08620	FGF4_HUMAN	fibroblast growth factor 4 precursor	194					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding				0	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	TCATGGTGGGCGACACTCGGT	0.607												
CTTN	2017	broad.mit.edu	37	11	70266592	70266592	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:70266592T>A	uc001opv.3	+	10	972	c.766T>A	c.(766-768)TTG>ATG	p.L256M	CTTN_uc001opu.2_Missense_Mutation_p.L256M|CTTN_uc001opw.3_Missense_Mutation_p.L256M|CTTN_uc010rqm.1_Translation_Start_Site|CTTN_uc001opx.2_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	256	Cortactin 5.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCAGGAGAAATTGCAGCTGCA	0.448												
PDE2A	5138	broad.mit.edu	37	11	72295262	72295262	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:72295262C>T	uc010rrc.1	-	19	1876	c.1633G>A	c.(1633-1635)GGC>AGC	p.G545S	PDE2A_uc001oso.2_Missense_Mutation_p.G524S|PDE2A_uc010rra.1_Missense_Mutation_p.G538S|PDE2A_uc001osn.2_Missense_Mutation_p.G289S|PDE2A_uc010rrb.1_Missense_Mutation_p.G536S|PDE2A_uc010rrd.1_Missense_Mutation_p.G430S	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	545	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ATGCTGATGCCGCAGTAGATG	0.637												
FCHSD2	9873	broad.mit.edu	37	11	72600987	72600987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:72600987G>A	uc009ytl.2	-	11	1149	c.928C>T	c.(928-930)CGA>TGA	p.R310*	FCHSD2_uc010rrg.1_Nonsense_Mutation_p.R174*|FCHSD2_uc001oth.3_Nonsense_Mutation_p.R254*|FCHSD2_uc001oti.2_Nonsense_Mutation_p.R269*	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	310							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCTAACTGTCGGCTCTACAAT	0.418												
C2CD3	26005	broad.mit.edu	37	11	73809298	73809298	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:73809298T>C	uc001ouu.2	-	16	2962	c.2735A>G	c.(2734-2736)GAT>GGT	p.D912G		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	912						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					AATCTTAGCATCTCTAGAGGG	0.408												
C2CD3	26005	broad.mit.edu	37	11	73811695	73811695	+	Silent	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:73811695T>C	uc001ouu.2	-	15	2834	c.2607A>G	c.(2605-2607)AAA>AAG	p.K869K		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	869						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TTTCCAGGTATTTGGAAGACA	0.403												
POLD3	10714	broad.mit.edu	37	11	74347278	74347278	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:74347278G>A	uc001ovf.1	+	11	1231	c.1156G>A	c.(1156-1158)GTA>ATA	p.V386I	POLD3_uc009yua.1_Missense_Mutation_p.V280I	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	386					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					ACGAAAACGCGTACTAAAATC	0.363												
NEU3	10825	broad.mit.edu	37	11	74705645	74705645	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:74705645G>A	uc001ovw.2	+	2	342	c.186G>A	c.(184-186)CTG>CTA	p.L62L	NEU3_uc001ovv.2_Silent_p.L52L|NEU3_uc010rrl.1_Intron	NM_006656	NP_006647	A8K327	A8K327_HUMAN	sialidase 3	62										ovary(2)	2						TCCCAGCCCTGCTCTACATAC	0.562												
CAPN5	726	broad.mit.edu	37	11	76829322	76829322	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:76829322C>T	uc001oxx.2	+	8	1276	c.1091C>T	c.(1090-1092)ACG>ATG	p.T364M	CAPN5_uc009yup.2_Missense_Mutation_p.T404M|CAPN5_uc009yuq.2_Missense_Mutation_p.T400M|CAPN5_uc001oxy.2_Missense_Mutation_p.T404M|CAPN5_uc001oya.2_5'Flank	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	364	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						GGCGCCTGGACGCTGCATGAG	0.622												
MYO7A	4647	broad.mit.edu	37	11	76893012	76893012	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:76893012C>T	uc001oyb.2	+	24	3192	c.2920C>T	c.(2920-2922)CGG>TGG	p.R974W	MYO7A_uc010rsl.1_Missense_Mutation_p.R974W|MYO7A_uc010rsm.1_Missense_Mutation_p.R963W|MYO7A_uc001oyc.2_Missense_Mutation_p.R974W|MYO7A_uc001oyd.2_Missense_Mutation_p.R314W|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.R185W	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	974					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						GGAGCGAGGGCGGAGGGAGAT	0.413												
INTS4	92105	broad.mit.edu	37	11	77669839	77669839	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:77669839A>G	uc001oys.2	-	7	778	c.750T>C	c.(748-750)AGT>AGC	p.S250S	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Silent_p.S250S	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	250	HEAT 4.				snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGACTGCAGCACTGCGCACTT	0.453												
ANKRD42	338699	broad.mit.edu	37	11	82947533	82947533	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:82947533C>A	uc001ozz.1	+	8	1339	c.917C>A	c.(916-918)CCC>CAC	p.P306H	ANKRD42_uc010rsv.1_Missense_Mutation_p.P334H|ANKRD42_uc001paa.2_Missense_Mutation_p.P334H|ANKRD42_uc001pab.1_Missense_Mutation_p.P333H	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	306	ANK 9.									skin(1)	1						GGGGAGAGACCCAGTGATGTG	0.383												
TYR	7299	broad.mit.edu	37	11	88911656	88911656	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:88911656A>T	uc001pcs.2	+	1	617	c.535A>T	c.(535-537)ATG>TTG	p.M179L		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	179	Lumenal, melanosome (Potential).		M -> L (in OCA1A).	M -> I (in Ref. 4; CAA68756).	eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTTTGTCTGGATGCATTATTA	0.433									Oculocutaneous_Albinism			
FAT3	120114	broad.mit.edu	37	11	92600035	92600035	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:92600035G>A	uc001pdj.3	+	21	11804	c.11787G>A	c.(11785-11787)ACG>ACA	p.T3929T	FAT3_uc001pdi.3_Silent_p.T369T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3929	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)				GCAATTTCACGAGCCTGTCCC	0.642										TCGA Ovarian(4;0.039)		
HEPHL1	341208	broad.mit.edu	37	11	93844981	93844981	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:93844981C>G	uc001pep.2	+	20	3558	c.3401C>G	c.(3400-3402)TCC>TGC	p.S1134C	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	1134	Helical; (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGATTCTCTCCCTCAGACTC	0.507												
LAYN	143903	broad.mit.edu	37	11	111425932	111425932	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:111425932G>A	uc001plr.1	+	6	935	c.599G>A	c.(598-600)GGT>GAT	p.G200D	LAYN_uc001plp.1_Missense_Mutation_p.G192D|LAYN_uc001plq.1_Missense_Mutation_p.G200D|LAYN_uc001pls.1_Missense_Mutation_p.G192D|LAYN_uc010rwg.1_Missense_Mutation_p.G47D|LAYN_uc010rwh.1_Missense_Mutation_p.G48D	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	200	Extracellular (Potential).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		CTCTCTCCAGGTGAGGAAACA	0.398												
DIXDC1	85458	broad.mit.edu	37	11	111851488	111851488	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:111851488G>A	uc001pml.2	+	6	980	c.683G>A	c.(682-684)AGT>AAT	p.S228N	DIXDC1_uc001pmm.2_Missense_Mutation_p.S17N|DIXDC1_uc001pmn.2_5'Flank	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	228	Actin-binding.				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)		CCAATCCACAGTGCAAAGAGC	0.398												
FAM55D	54827	broad.mit.edu	37	11	114441770	114441770	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:114441770T>C	uc001ppc.2	-	6	1706	c.1525A>G	c.(1525-1527)AGT>GGT	p.S509G	FAM55D_uc001ppd.2_Missense_Mutation_p.S225G	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	509						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TCAATGATACTCACACTGAGA	0.343												
ABCG4	64137	broad.mit.edu	37	11	119029555	119029555	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:119029555G>A	uc001pvs.2	+	12	1689	c.1353G>A	c.(1351-1353)GCG>GCA	p.A451A	ABCG4_uc009zar.2_Silent_p.A451A	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	451	ABC transmembrane type-2.|Cytoplasmic (Potential).				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)		TAGAGATGGCGGTCTTCATGA	0.622												
USP2	9099	broad.mit.edu	37	11	119243468	119243468	+	Missense_Mutation	SNP	C	C	A	rs147455241		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:119243468C>A	uc001pwm.3	-	2	1018	c.723G>T	c.(721-723)AAG>AAT	p.K241N	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	241					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	p.K241K(1)		ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGGCCTGACCCTTTCCCGTCT	0.657												
CRTAM	56253	broad.mit.edu	37	11	122720827	122720827	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:122720827C>T	uc001pyj.2	+	2	98	c.98C>T	c.(97-99)ACG>ATG	p.T33M		NM_019604	NP_062550	O95727	CRTAM_HUMAN	class-I MHC-restricted T cell associated	33	Ig-like V-type.|Extracellular (Potential).				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			ovary(1)	1		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GAAGGCCAGACGCTCACTCTA	0.527												
VWA5A	4013	broad.mit.edu	37	11	124007910	124007910	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:124007910A>T	uc001pzu.2	+	15	2023	c.1814A>T	c.(1813-1815)CAT>CTT	p.H605L	VWA5A_uc001pzt.2_Missense_Mutation_p.H605L	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	605										upper_aerodigestive_tract(1)|ovary(1)	2						CCTCTGGCTCATAGGGACGTC	0.453												
OR8G2	26492	broad.mit.edu	37	11	124095512	124095512	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:124095512C>T	uc010saf.1	+	1	115	c.115C>T	c.(115-117)CGC>TGC	p.R39C		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	39						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTCCAGCTGCGCCTCTTCCT	0.512												
KCNJ5	3762	broad.mit.edu	37	11	128781366	128781366	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:128781366C>T	uc001qet.2	+	2	512	c.198C>T	c.(196-198)AAC>AAT	p.N66N	KCNJ5_uc009zck.2_Silent_p.N66N|KCNJ5_uc001qew.2_Silent_p.N66N	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	66	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ACCACGGCAACGTCCAGGAGA	0.592												
IGSF9B	22997	broad.mit.edu	37	11	133789980	133789980	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:133789980C>T	uc001qgx.3	-	18	3871	c.3640G>A	c.(3640-3642)GGC>AGC	p.G1214S		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1214	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCAGGGGAGCCGGTGCGGGAG	0.701												
NCAPD3	23310	broad.mit.edu	37	11	134073687	134073687	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:134073687G>T	uc001qhd.1	-	11	1936	c.1330C>A	c.(1330-1332)CTG>ATG	p.L444M	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	444	HEAT 1.				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCCTGCACCAGGAACTTATGC	0.458												
CCDC77	84318	broad.mit.edu	37	12	550953	550953	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:550953C>T	uc001qig.2	+	13	1514	c.1334C>T	c.(1333-1335)GCC>GTC	p.A445V	CCDC77_uc009zdk.2_Missense_Mutation_p.A413V|CCDC77_uc010sdp.1_Missense_Mutation_p.A413V|CCDC77_uc010sdq.1_Missense_Mutation_p.A413V	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77 isoform a	445	Potential.					centrosome				ovary(1)	1	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ACAGTTAATGCCCGGGCAAAC	0.433												
FOXM1	2305	broad.mit.edu	37	12	2981273	2981273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:2981273G>A	uc001qlf.2	-	3	908	c.643C>T	c.(643-645)CGA>TGA	p.R215*	FOXM1_uc001qle.2_Nonsense_Mutation_p.R215*|FOXM1_uc001qlg.2_Nonsense_Mutation_p.R215*|FOXM1_uc009zea.2_Nonsense_Mutation_p.R214*|FOXM1_uc009zeb.2_Nonsense_Mutation_p.R214*	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	215					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTAACCTGTCGCTGCTCCAGG	0.493												
NDUFA9	4704	broad.mit.edu	37	12	4764054	4764054	+	Missense_Mutation	SNP	G	G	A	rs71579254		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:4764054G>A	uc001qnc.2	+	3	294	c.284G>A	c.(283-285)CGT>CAT	p.R95H	NDUFA9_uc009zei.1_Missense_Mutation_p.R95H	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	95					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	ATGCACCTTCGTCCCATGGGT	0.403												
IFFO1	25900	broad.mit.edu	37	12	6650743	6650743	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:6650743G>A	uc001qpd.1	-	8	1543	c.1509C>T	c.(1507-1509)AGC>AGT	p.S503S	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Silent_p.S143S|IFFO1_uc001qpb.1_Silent_p.S180S|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.S515S|IFFO1_uc001qpf.1_Silent_p.S506S|IFFO1_uc001qoz.1_Silent_p.S144S|IFFO1_uc001qpc.1_Silent_p.S507S|IFFO1_uc001qpg.2_Silent_p.S144S	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	503						intermediate filament					0						CGCGCTTCATGCTGCACATCT	0.652												
NOP2	4839	broad.mit.edu	37	12	6672657	6672657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:6672657G>A	uc001qph.1	-	8	880	c.700C>T	c.(700-702)CGA>TGA	p.R234*	NOP2_uc009zeq.1_Translation_Start_Site|NOP2_uc001qpi.1_Nonsense_Mutation_p.R234*|NOP2_uc001qpj.1_Intron	NM_001033714	NP_001028886	P46087	NOP2_HUMAN	nucleolar protein 1, 120kDa	238					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						TTGTGAACTCGTTGCAGGTCT	0.542											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CHD4	1108	broad.mit.edu	37	12	6682399	6682399	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:6682399G>A	uc001qpo.2	-	38	5562	c.5398C>T	c.(5398-5400)CGC>TGC	p.R1800C	CHD4_uc001qpn.2_Missense_Mutation_p.R1793C|CHD4_uc001qpp.2_Missense_Mutation_p.R1825C	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1800	Required for interaction with PCNT.				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|zinc ion binding			central_nervous_system(2)	2						GCAGCCCGGCGCAGCTGTTCC	0.512												
CHD4	1108	broad.mit.edu	37	12	6691863	6691863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:6691863G>A	uc001qpo.2	-	29	4452	c.4288C>T	c.(4288-4290)CGA>TGA	p.R1430*	CHD4_uc001qpn.2_Nonsense_Mutation_p.R1423*|CHD4_uc001qpp.2_Nonsense_Mutation_p.R1455*|uc001qpq.1_Silent_p.S22S|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1430					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|zinc ion binding			central_nervous_system(2)	2						ATACCATATCGCATAATTGCA	0.483												
CD163L1	283316	broad.mit.edu	37	12	7586129	7586129	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:7586129C>T	uc001qsy.2	-	3	312	c.286G>A	c.(286-288)GCC>ACC	p.A96T	CD163L1_uc010sge.1_Missense_Mutation_p.A96T	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	96	SRCR 1.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CGAAACATGGCGAAAGAAAAT	0.463												
AICDA	57379	broad.mit.edu	37	12	8757859	8757859	+	Missense_Mutation	SNP	G	G	A	rs141451637	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:8757859G>A	uc001qur.2	-	3	458	c.379C>T	c.(379-381)CGG>TGG	p.R127W	AICDA_uc001qup.1_Missense_Mutation_p.R122W|AICDA_uc001quq.1_Missense_Mutation_p.R122W|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	127					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung SC(5;0.184)					TGCAGCCGCCGCAGCCCCTCG	0.642									Immune_Deficiency_with_Hyper-IgM			
KLRK1	22914	broad.mit.edu	37	12	10532363	10532363	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:10532363G>A	uc009zhj.2	-	4	341	c.177C>T	c.(175-177)ATC>ATT	p.I59I	uc001qya.1_RNA|KLRK1_uc001qyb.2_RNA|KLRK1_uc001qyc.2_Silent_p.I59I|KLRK1_uc009zhk.2_Silent_p.I59I|KLRK1_uc001qyd.2_Silent_p.I59I	NM_007360	NP_031386	P26718	NKG2D_HUMAN	NKG2-D type II integral membrane protein	59	Helical; Signal-anchor for type II membrane protein; (Potential).				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding				0						TGGCTACAGCGATGAAGCAGC	0.353												
PTPRO	5800	broad.mit.edu	37	12	15654773	15654773	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:15654773C>T	uc001rcv.1	+	5	1055	c.881C>T	c.(880-882)ACG>ATG	p.T294M	PTPRO_uc001rcw.1_Missense_Mutation_p.T294M|PTPRO_uc001rcu.1_Missense_Mutation_p.T294M	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	294	Fibronectin type-III 3.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				TATGAAACTACGTCTCAGCCA	0.423												
STRAP	11171	broad.mit.edu	37	12	16042873	16042873	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:16042873A>G	uc001rdc.3	+	3	614	c.260A>G	c.(259-261)GAT>GGT	p.D87G	STRAP_uc010shw.1_Missense_Mutation_p.D100G|STRAP_uc001rdd.3_5'UTR	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	87	WD 2.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)				AAAGTGTGGGATGCTGTCTCA	0.323												
CMAS	55907	broad.mit.edu	37	12	22218104	22218104	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:22218104C>T	uc001rfm.2	+	8	1243	c.1164C>T	c.(1162-1164)GGC>GGT	p.G388G	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	388					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3						GCCTAAGTGGCGCTCCTGCTG	0.428												
ITPR2	3709	broad.mit.edu	37	12	26568380	26568380	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:26568380C>T	uc001rhg.2	-	51	7579	c.7162G>A	c.(7162-7164)GTC>ATC	p.V2388I	ITPR2_uc009zjg.1_Missense_Mutation_p.V539I	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2388	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)					TTTCGTGTGACACTTTTTATG	0.383												
CAPRIN2	65981	broad.mit.edu	37	12	30863196	30863196	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:30863196C>T	uc001rji.1	-	18	3775	c.3024G>A	c.(3022-3024)CTG>CTA	p.L1008L	CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Silent_p.L675L|CAPRIN2_uc001rjh.1_Silent_p.L958L|CAPRIN2_uc001rjj.1_Silent_p.L674L|CAPRIN2_uc001rjk.3_3'UTR|CAPRIN2_uc001rjl.3_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	1008	C1q.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTCCAGGGGCCAGATTAGAGG	0.473												
SLC38A2	54407	broad.mit.edu	37	12	46758904	46758904	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:46758904A>G	uc001rpg.2	-	8	1072	c.632T>C	c.(631-633)CTG>CCG	p.L211P	SLC38A2_uc010sli.1_Missense_Mutation_p.L49P|SLC38A2_uc001rph.2_Missense_Mutation_p.L111P	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	211	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATTTCTAAACAGCGACAAAGG	0.378												
DHH	50846	broad.mit.edu	37	12	49485071	49485071	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:49485071G>A	uc001rtf.2	-	2	712	c.405C>T	c.(403-405)CAC>CAT	p.H135H		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	135					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2						AATCCTGAGCGTGGTGGCCGT	0.607												
C1QL4	338761	broad.mit.edu	37	12	49729949	49729949	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:49729949G>A	uc001rtz.1	-	1	1023	c.312C>T	c.(310-312)GCC>GCT	p.A104A		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	104						collagen					0						GCACGTAGCCGGCAGCGGGCG	0.736												
DIP2B	57609	broad.mit.edu	37	12	51117073	51117073	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:51117073G>A	uc001rwv.2	+	27	3411	c.3255G>A	c.(3253-3255)ACG>ACA	p.T1085T	DIP2B_uc009zlt.2_Silent_p.T515T	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1085						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						AGAACCTCACGGCCACGCTGC	0.502												
GALNT6	11226	broad.mit.edu	37	12	51751183	51751183	+	Missense_Mutation	SNP	C	C	T	rs142431103		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:51751183C>T	uc001ryk.2	-	9	1777	c.1552G>A	c.(1552-1554)GGG>AGG	p.G518R	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.G518R|GALNT6_uc001ryj.1_Missense_Mutation_p.G83R	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	518	Ricin B-type lectin.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						GGCTTCCCCCCGCGGTTGTTC	0.612												
FIGNL2	401720	broad.mit.edu	37	12	52215861	52215861	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:52215861C>T	uc001rzc.2	-	1	348	c.337G>A	c.(337-339)GAA>AAA	p.E113K		NM_001013690	NP_001013712	A6NMB9	FIGL2_HUMAN	fidgetin-like 2	113							ATP binding|nucleoside-triphosphatase activity				0				BRCA - Breast invasive adenocarcinoma(357;0.135)		GGGAGGCCTTCGTGGAGTGAG	0.706												
KRT6A	3853	broad.mit.edu	37	12	52884727	52884727	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:52884727G>A	uc001sam.2	-	4	1036	c.827C>T	c.(826-828)GCT>GTT	p.A276V		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	276	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		CATGTAGGCAGCATCCACATC	0.502												
KIAA0748	9840	broad.mit.edu	37	12	55356262	55356262	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:55356262G>A	uc001sgn.3	-	9	1530	c.1420C>T	c.(1420-1422)CGT>TGT	p.R474C	KIAA0748_uc001sgl.3_Missense_Mutation_p.R336C|KIAA0748_uc001sgm.3_Missense_Mutation_p.R221C|KIAA0748_uc010spb.1_Missense_Mutation_p.R221C|KIAA0748_uc010spc.1_Missense_Mutation_p.R336C|KIAA0748_uc010spd.1_Missense_Mutation_p.R474C|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	474										ovary(1)|central_nervous_system(1)	2						AAAGACCGACGCAGTTCTGGT	0.517												
ITGA7	3679	broad.mit.edu	37	12	56091499	56091499	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:56091499A>G	uc001shh.2	-	9	1621	c.1401T>C	c.(1399-1401)GCT>GCC	p.A467A	ITGA7_uc001shg.2_Silent_p.A463A|ITGA7_uc010sps.1_Silent_p.A370A|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Silent_p.A350A	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	507	FG-GAP 7.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						CTGCGGTGTCAGCCAGGGAGC	0.612												
DGKA	1606	broad.mit.edu	37	12	56346914	56346914	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:56346914G>A	uc001sij.2	+	22	2297	c.2033G>A	c.(2032-2034)CGG>CAG	p.R678Q	DGKA_uc001sik.2_Missense_Mutation_p.R678Q|DGKA_uc001sil.2_Missense_Mutation_p.R678Q|DGKA_uc001sim.2_Missense_Mutation_p.R678Q|DGKA_uc001sin.2_Missense_Mutation_p.R678Q|DGKA_uc009zof.2_Missense_Mutation_p.R324Q|DGKA_uc001sio.2_Missense_Mutation_p.R420Q	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	678					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	GCTGGACGTCGGCTGGCCAAG	0.562												
ERBB3	2065	broad.mit.edu	37	12	56482607	56482607	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:56482607C>T	uc001sjh.2	+	9	1257	c.1064C>T	c.(1063-1065)ACC>ATC	p.T355I	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.T296I|ERBB3_uc001sji.2_Missense_Mutation_p.T46I	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	355	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GTGAACTGCACCAAGATCCTG	0.552												
OBFC2B	79035	broad.mit.edu	37	12	56619283	56619283	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:56619283G>A	uc001ski.2	+	3	330	c.206G>A	c.(205-207)CGG>CAG	p.R69Q	OBFC2B_uc001skk.2_Missense_Mutation_p.R94Q|OBFC2B_uc001skj.2_Missense_Mutation_p.R85Q	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	oligonucleotide/oligosaccharide-binding fold	69	OB.				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			ovary(1)	1						GACATTATCCGGCTCACCAAA	0.498								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
IL23A	51561	broad.mit.edu	37	12	56733791	56733791	+	Missense_Mutation	SNP	G	G	A	rs146998334		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:56733791G>A	uc001sla.2	+	4	639	c.473G>A	c.(472-474)CGT>CAT	p.R158H		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19 precursor	158					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity				0						CCATGGCAGCGTCTCCTTCTC	0.577												
GPR182	11318	broad.mit.edu	37	12	57389178	57389178	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:57389178C>T	uc001smk.2	+	2	279	c.185C>T	c.(184-186)GCC>GTC	p.A62V	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	62	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						CTCTACCTGGCCATGTTTGTG	0.587												
KIF5A	3798	broad.mit.edu	37	12	57963431	57963431	+	Missense_Mutation	SNP	C	C	T	rs121434444		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:57963431C>T	uc001sor.1	+	11	1290	c.1082C>T	c.(1081-1083)GCG>GTG	p.A361V	KIF5A_uc010srr.1_Missense_Mutation_p.A272V	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	361			A -> V (in SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover).		blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						gagaCGATTGCGAAGCTGGAG	0.418												
KIF5A	3798	broad.mit.edu	37	12	57965968	57965968	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:57965968T>C	uc001sor.1	+	14	1695	c.1487T>C	c.(1486-1488)GTG>GCG	p.V496A	KIF5A_uc010srr.1_Missense_Mutation_p.V407A	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	496					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						GAGCTGGCTGTGAACTATGAC	0.567												
PIP4K2C	79837	broad.mit.edu	37	12	57994645	57994645	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:57994645G>A	uc001sou.2	+	8	996	c.865G>A	c.(865-867)GAC>AAC	p.D289N	PIP4K2C_uc001sot.2_Missense_Mutation_p.D289N|PIP4K2C_uc010srs.1_Missense_Mutation_p.D271N|PIP4K2C_uc010srt.1_Missense_Mutation_p.D241N	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	289	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					AGGCATCCACGACATCATTCG	0.552												
LRIG3	121227	broad.mit.edu	37	12	59267868	59267868	+	Silent	SNP	T	T	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:59267868T>A	uc001sqr.2	-	18	3330	c.3084A>T	c.(3082-3084)CCA>CCT	p.P1028P	LRIG3_uc009zqh.2_Silent_p.P968P|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	1028						integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			CAACCGACGCTGGCTCTGGAT	0.413												
DYRK2	8445	broad.mit.edu	37	12	68051469	68051469	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:68051469G>A	uc001str.3	+	3	1184	c.782G>A	c.(781-783)CGG>CAG	p.R261Q	DYRK2_uc001sts.3_Missense_Mutation_p.R188Q	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	261	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CGCTTCCACCGGCAAGCAGCG	0.542												
KCNC2	3747	broad.mit.edu	37	12	75601598	75601598	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:75601598G>A	uc001sxg.1	-	2	710	c.166C>T	c.(166-168)CCG>TCG	p.P56S	KCNC2_uc009zry.2_Missense_Mutation_p.P56S|KCNC2_uc001sxe.2_Missense_Mutation_p.P56S|KCNC2_uc001sxf.2_Missense_Mutation_p.P56S|KCNC2_uc010stw.1_Missense_Mutation_p.P56S	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	56	Gly/Pro-rich (insert).|Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						ggcggcgacggctgcagcTTG	0.517												
KRR1	11103	broad.mit.edu	37	12	75900336	75900336	+	Silent	SNP	A	A	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:75900336A>C	uc001sxt.2	-	4	488	c.447T>G	c.(445-447)TCT>TCG	p.S149S	KRR1_uc009zsc.2_Silent_p.S149S|KRR1_uc010stx.1_Silent_p.S149S	NM_007043	NP_008974	Q13601	KRR1_HUMAN	HIV-1 rev binding protein 2	149					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			ovary(1)|pancreas(1)	2						TCCTTACTAAAGAACCTATTT	0.303												
PLXNC1	10154	broad.mit.edu	37	12	94543038	94543038	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:94543038G>A	uc001tdc.2	+	1	540	c.291G>A	c.(289-291)GCG>GCA	p.A97A		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	97	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						cgccccccgcgcggccccggc	0.602												
CCDC41	51134	broad.mit.edu	37	12	94725550	94725550	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:94725550G>A	uc001tdd.2	-	14	2219	c.1633C>T	c.(1633-1635)CGT>TGT	p.R545C	CCDC41_uc001tde.2_Missense_Mutation_p.R545C|CCDC41_uc009zsw.1_RNA	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	537	Potential.			R -> C (in Ref. 3; AAI25087).							0						TCTGTGATACGCTCATGAAGC	0.383												
CCDC38	120935	broad.mit.edu	37	12	96300224	96300224	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:96300224C>T	uc001tek.1	-	5	544	c.310G>A	c.(310-312)GAC>AAC	p.D104N		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	104										skin(1)	1						CTTTTTGTGTCGGAACCTGTG	0.333												
KIAA1033	23325	broad.mit.edu	37	12	105535024	105535024	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:105535024G>A	uc001tld.2	+	18	1874	c.1787G>A	c.(1786-1788)CGA>CAA	p.R596Q	KIAA1033_uc010swr.1_Missense_Mutation_p.R597Q|KIAA1033_uc010sws.1_Missense_Mutation_p.R408Q	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	596					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						CTTAGAGAACGGTAAGTAGGA	0.338												
POLR3B	55703	broad.mit.edu	37	12	106824129	106824129	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:106824129G>A	uc001tlp.2	+	14	1564	c.1342G>A	c.(1342-1344)GCA>ACA	p.A448T	POLR3B_uc001tlq.2_Missense_Mutation_p.A390T	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	448					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						ATATATATCCGCACTGGGCAT	0.468												
USP30	84749	broad.mit.edu	37	12	109509471	109509471	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:109509471C>T	uc010sxi.1	+	5	639	c.535C>T	c.(535-537)CGC>TGC	p.R179C	USP30_uc001tnu.3_Missense_Mutation_p.R148C	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	179	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						TGAGCGAGACCGCCAGCCTCG	0.438												
ACACB	32	broad.mit.edu	37	12	109703279	109703279	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:109703279G>A	uc001tob.2	+	52	7318	c.7199G>A	c.(7198-7200)CGT>CAT	p.R2400H	ACACB_uc001toc.2_Missense_Mutation_p.R2400H|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.R1066H	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2400					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TCCACCATCCGTGAGAACATC	0.637												
GPN3	51184	broad.mit.edu	37	12	110902984	110902984	+	Silent	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:110902984T>C	uc001tqr.2	-	2	140	c.84A>G	c.(82-84)GAA>GAG	p.E28E	GPN3_uc001tqs.2_Silent_p.E38E	NM_016301	NP_057385	Q9UHW5	GPN3_HUMAN	GPN-loop GTPase 3 isoform 1	28						protein complex	GTP binding				0						GGTTGAGGGCTTCACAGTGCT	0.517												
MAPKAPK5	8550	broad.mit.edu	37	12	112323793	112323793	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:112323793G>A	uc001tta.2	+	10	1181	c.922G>A	c.(922-924)GAG>AAG	p.E308K	MAPKAPK5_uc001tsz.2_Missense_Mutation_p.E308K|MAPKAPK5_uc001ttb.2_Missense_Mutation_p.E241K	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	MAP kinase-activated protein kinase 5 isoform 2	308					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3						CAATTCCACCGAGGCCCTGGA	0.527												
NAA25	80018	broad.mit.edu	37	12	112480910	112480910	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:112480910G>A	uc001ttm.2	-	19	2376	c.2356C>T	c.(2356-2358)CTG>TTG	p.L786L	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Silent_p.L758L|NAA25_uc009zwa.1_Silent_p.L786L	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	786						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						CTGGTATCCAGCTCATAAATA	0.378												
NOS1	4842	broad.mit.edu	37	12	117660629	117660629	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:117660629C>T	uc001twm.1	-	26	4552	c.3866G>A	c.(3865-3867)CGG>CAG	p.R1289Q		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1289					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTGGATTGCCGGCACCCGAA	0.577												
NOS1	4842	broad.mit.edu	37	12	117672531	117672531	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:117672531T>A	uc001twm.1	-	21	3760	c.3074A>T	c.(3073-3075)AAC>ATC	p.N1025I		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1025	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTGGCTCCCGTTGGTGTGGAG	0.572												
HSPB8	26353	broad.mit.edu	37	12	119617264	119617264	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:119617264C>T	uc001txb.2	+	1	670	c.147C>T	c.(145-147)CCC>CCT	p.P49P	HSPB8_uc001txc.2_Silent_p.P49P	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	49					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCTTGGCCCGACTGGGCTC	0.682												
CCDC60	160777	broad.mit.edu	37	12	119966530	119966530	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:119966530C>T	uc001txe.2	+	12	1805	c.1340C>T	c.(1339-1341)GCA>GTA	p.A447V	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	447										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AAAGGAGATGCAGAAGAAATT	0.388												
HNF1A	6927	broad.mit.edu	37	12	121434123	121434123	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:121434123C>T	uc001tzg.2	+	5	1037	c.1014C>T	c.(1012-1014)GGC>GGT	p.G338G	HNF1A_uc001tze.1_Silent_p.G338G|HNF1A_uc001tzf.2_Silent_p.G338G|HNF1A_uc010szn.1_Silent_p.G338G	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	338					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622									Hepatic_Adenoma_Familial_Clustering_of			
KNTC1	9735	broad.mit.edu	37	12	123099621	123099621	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:123099621G>A	uc001ucv.2	+	56	6124	c.5961G>A	c.(5959-5961)CTG>CTA	p.L1987L	KNTC1_uc010taf.1_Silent_p.L912L	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1987					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAAAGCTTCTGGGCTTCAATA	0.393												
MPHOSPH9	10198	broad.mit.edu	37	12	123687615	123687615	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:123687615G>T	uc001uel.2	-	6	988	c.881C>A	c.(880-882)CCT>CAT	p.P294H	MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	294					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTGTAACGTAGGATCTAGAGT	0.468												
TMEM132D	121256	broad.mit.edu	37	12	129559375	129559375	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:129559375C>T	uc009zyl.1	-	9	2673	c.2345G>A	c.(2344-2346)CGG>CAG	p.R782Q	TMEM132D_uc001uia.2_Missense_Mutation_p.R320Q	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	782	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CACACTCTTCCGCTTGGATTT	0.488												
GPR133	283383	broad.mit.edu	37	12	131487823	131487823	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:131487823G>T	uc001uit.3	+	10	1679	c.1120G>T	c.(1120-1122)GTG>TTG	p.V374L	GPR133_uc010tbm.1_Missense_Mutation_p.V406L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	374	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAGGTCACCGTGGAGGGCTC	0.612												
SFRS8	6433	broad.mit.edu	37	12	132199409	132199409	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:132199409G>T	uc001uja.1	+	3	571	c.431G>T	c.(430-432)GGG>GTG	p.G144V	SFRS8_uc010tbn.1_Missense_Mutation_p.G144V|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_Missense_Mutation_p.G18V	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	144					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		GCAGAGGATGGGAGCTACAAT	0.443												
POLE	5426	broad.mit.edu	37	12	133241895	133241895	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:133241895G>A	uc001uks.1	-	21	2505	c.2461C>T	c.(2461-2463)CGC>TGC	p.R821C	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R794C	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	821					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TACCCCTTGCGCATGACATAG	0.597								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
GOLGA3	2802	broad.mit.edu	37	12	133360752	133360752	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:133360752C>T	uc001ukz.1	-	16	3824	c.3265G>A	c.(3265-3267)GAG>AAG	p.E1089K	GOLGA3_uc001ula.1_Missense_Mutation_p.E1089K|GOLGA3_uc001ulb.2_Missense_Mutation_p.E1089K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1089	Potential.				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)		GGCCTCACCTCGTCCTCCAGC	0.627												
CHFR	55743	broad.mit.edu	37	12	133428223	133428223	+	Silent	SNP	C	C	T	rs142511371		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:133428223C>T	uc001ulf.2	-	12	1593	c.1509G>A	c.(1507-1509)CCG>CCA	p.P503P	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.P491P|CHFR_uc010tbs.1_Silent_p.P502P|CHFR_uc001uld.2_Silent_p.P462P|CHFR_uc010tbt.1_Silent_p.P411P	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	503					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGGCGACACGCGGGTCCTGCT	0.657												
TUBA3C	7278	broad.mit.edu	37	13	19751183	19751183	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:19751183C>T	uc009zzj.2	-	4	989	c.940G>A	c.(940-942)GCC>ACC	p.A314T		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	314					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATGCAGCAGGCCATGTACTTG	0.577												
SPATA13	221178	broad.mit.edu	37	13	24876890	24876890	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:24876890G>A	uc001upg.1	+	12	2345	c.1938G>A	c.(1936-1938)AGG>AGA	p.R646R	SPATA13_uc001upd.1_Silent_p.R1271R|C1QTNF9_uc001upe.2_Intron|SPATA13_uc010tcy.1_Missense_Mutation_p.A594T|SPATA13_uc010tcz.1_Silent_p.R530R|SPATA13_uc010tda.1_Silent_p.R590R|SPATA13_uc001uph.2_Silent_p.R568R|SPATA13_uc010tdb.1_Silent_p.R506R|SPATA13_uc009zzz.1_Missense_Mutation_p.A204T	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	646	C-terminal tail.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCTTCAACAGGCTCACCCCCT	0.552												
RNF6	6049	broad.mit.edu	37	13	26792713	26792713	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:26792713C>T	uc001uqo.2	-	4	515	c.224G>A	c.(223-225)CGG>CAG	p.R75Q	RNF6_uc001uqn.1_Missense_Mutation_p.R75Q|RNF6_uc010aak.2_Missense_Mutation_p.R75Q|RNF6_uc001uqp.2_Missense_Mutation_p.R75Q|RNF6_uc001uqq.2_Missense_Mutation_p.R75Q|RNF6_uc010tdk.1_5'UTR	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	75					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GCCATCTAACCGCTGTTGCAG	0.398												
FLT3	2322	broad.mit.edu	37	13	28608309	28608309	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:28608309C>T	uc001urw.2	-	14	1829	c.1747G>A	c.(1747-1749)GGC>AGC	p.G583S	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.G583S	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	583	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.T582_G583ins14(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGAGGAGCCGGTCACCTGT	0.393			Mis|O		AML|ALL							
FLT1	2321	broad.mit.edu	37	13	28895660	28895660	+	Silent	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:28895660A>T	uc001usb.3	-	23	3399	c.3114T>A	c.(3112-3114)ATT>ATA	p.I1038I	FLT1_uc010aap.2_Silent_p.I43I|FLT1_uc010aaq.2_Silent_p.I163I|FLT1_uc001usa.3_Silent_p.I256I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1038	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CAAAATCACAAATCTTCACCA	0.383												
FLT1	2321	broad.mit.edu	37	13	29001366	29001366	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:29001366C>T	uc001usb.3	-	10	1651	c.1366G>A	c.(1366-1368)GCA>ACA	p.A456T	FLT1_uc010aar.1_Missense_Mutation_p.A456T|FLT1_uc001usc.3_Missense_Mutation_p.A456T|FLT1_uc010tdp.1_Missense_Mutation_p.A456T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	456	Ig-like C2-type 5.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATACCATATGCGGTACAAGTC	0.478												
KL	9365	broad.mit.edu	37	13	33591206	33591206	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:33591206C>T	uc001uus.2	+	1	636	c.628C>T	c.(628-630)CGC>TGC	p.R210C	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	210	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTGGGCCAACCGCGCCCTGGC	0.682												
C13orf23	80209	broad.mit.edu	37	13	39587976	39587976	+	Silent	SNP	C	C	T	rs61740032	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:39587976C>T	uc001uwy.2	-	11	2286	c.1413G>A	c.(1411-1413)GCG>GCA	p.A471A	C13orf23_uc001uwz.2_Silent_p.A449A	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	471	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		AACCTTTTAACGCAGACAAAA	0.483												
PCDH8	5100	broad.mit.edu	37	13	53420431	53420431	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:53420431C>T	uc001vhi.2	-	1	2344	c.2141G>A	c.(2140-2142)GGC>GAC	p.G714D	PCDH8_uc001vhj.2_Missense_Mutation_p.G714D	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	714	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCCACGCCCGCCCCCTGCTGT	0.721												
SLITRK5	26050	broad.mit.edu	37	13	88328753	88328753	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:88328753G>A	uc001vln.2	+	2	1329	c.1110G>A	c.(1108-1110)GTG>GTA	p.V370V	SLITRK5_uc010tic.1_Silent_p.V129V	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	370	Extracellular (Potential).|LRRNT.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AATCCCCGGTGCCTTTGGAGT	0.592												
SLITRK5	26050	broad.mit.edu	37	13	88329438	88329438	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:88329438G>A	uc001vln.2	+	2	2014	c.1795G>A	c.(1795-1797)GCT>ACT	p.A599T	SLITRK5_uc010tic.1_Missense_Mutation_p.A358T	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	599	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAAAAAATTCGCTGAGACCGA	0.547												
GPC5	2262	broad.mit.edu	37	13	92101090	92101090	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:92101090C>T	uc010tif.1	+	2	605	c.239C>T	c.(238-240)GCG>GTG	p.A80V		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	80						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TATCAGATTGCGGCTCGCCAG	0.433												
FARP1	10160	broad.mit.edu	37	13	98865614	98865614	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:98865614G>A	uc001vnj.2	+	2	454	c.118G>A	c.(118-120)GTG>ATG	p.V40M	FARP1_uc001vnh.2_Missense_Mutation_p.V40M|FARP1_uc001vni.2_Missense_Mutation_p.V40M	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	40	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGAAAACTCGTGTCCATCAA	0.562												
NALCN	259232	broad.mit.edu	37	13	101714451	101714451	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:101714451C>T	uc001vox.1	-	41	4813	c.4624G>A	c.(4624-4626)GTG>ATG	p.V1542M		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1542	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGGATGTCCACGGACCGGTAT	0.547												
ERCC5	2073	broad.mit.edu	37	13	103459769	103459769	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:103459769G>A	uc001vpu.1	+	1	274	c.152G>A	c.(151-153)GGT>GAT	p.G51D	BIVM_uc001vps.2_Missense_Mutation_p.G51D|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.G51D	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					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)					AAAGGAGATGGTCATTATCCA	0.448			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
ATP4B	496	broad.mit.edu	37	13	114307279	114307279	+	Missense_Mutation	SNP	G	G	A	rs139958643		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:114307279G>A	uc001vtz.2	-	4	506	c.464C>T	c.(463-465)ACG>ATG	p.T155M	ATP4B_uc010agy.1_Missense_Mutation_p.T155M	NM_000705	NP_000696	P51164	ATP4B_HUMAN	hydrogen/potassium-exchanging ATPase 4B	155	Extracellular (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	CATATCTGCCGTGAACTTGCA	0.517												
RNASE10	338879	broad.mit.edu	37	14	20978876	20978876	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:20978876A>G	uc010tlj.1	+	1	246	c.246A>G	c.(244-246)GAA>GAG	p.E82E	RNASE10_uc001vxp.2_Silent_p.E110E	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	82						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		GCTGGCCAGAAGATCCCATCC	0.532												
C14orf93	60686	broad.mit.edu	37	14	23458986	23458986	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:23458986G>A	uc001wib.1	-	5	1359	c.1049C>T	c.(1048-1050)ACC>ATC	p.T350I	C14orf93_uc001wic.1_Missense_Mutation_p.T170I|C14orf93_uc001wid.1_Missense_Mutation_p.T350I|C14orf93_uc001wig.2_Missense_Mutation_p.T350I|C14orf93_uc001wih.2_Missense_Mutation_p.T350I|C14orf93_uc001wie.2_Missense_Mutation_p.T350I|C14orf93_uc001wia.3_Missense_Mutation_p.T350I|C14orf93_uc001wif.2_Missense_Mutation_p.T170I	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	350						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GTGGGGACTGGTCACCAGCTC	0.433												
CDH24	64403	broad.mit.edu	37	14	23518336	23518336	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:23518336G>A	uc001wil.2	-	12	2120	c.1860C>T	c.(1858-1860)GAC>GAT	p.D620D	CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Silent_p.D582D	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	620	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCACAGAGCCGTCAGGCTGGC	0.642												
IL25	64806	broad.mit.edu	37	14	23844958	23844958	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:23844958C>T	uc001wjr.2	+	2	713	c.403C>T	c.(403-405)CAC>TAC	p.H135Y	IL25_uc001wjq.2_Missense_Mutation_p.H119Y|CMTM5_uc001wjs.2_5'Flank|CMTM5_uc001wjt.2_5'Flank|CMTM5_uc010akm.2_5'Flank|CMTM5_uc010akn.2_5'Flank|CMTM5_uc001wju.2_5'Flank|CMTM5_uc010ako.2_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	interleukin 25 isoform 1 precursor	135					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			ovary(1)	1	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		GCTGCTCTACCACAACCAGAC	0.642												
MYH7	4625	broad.mit.edu	37	14	23884369	23884369	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:23884369G>A	uc001wjx.2	-	37	5500	c.5394C>T	c.(5392-5394)GAC>GAT	p.D1798D		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1798	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTCGGCTTCGTCCAGCCGGT	0.617												
GMPR2	51292	broad.mit.edu	37	14	24707977	24707977	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:24707977C>T	uc001wnr.2	+	10	1422	c.1040C>T	c.(1039-1041)GCG>GTG	p.A347V	GMPR2_uc001wnv.2_Missense_Mutation_p.A184V|GMPR2_uc001wns.2_Missense_Mutation_p.A347V|GMPR2_uc001wnt.2_Missense_Mutation_p.A314V|GMPR2_uc001wnu.2_Missense_Mutation_p.A372V|GMPR2_uc001wnw.2_Missense_Mutation_p.A347V|GMPR2_uc010all.2_Missense_Mutation_p.A319V|GMPR2_uc001wnx.2_Missense_Mutation_p.A365V|GMPR2_uc010tod.1_Missense_Mutation_p.A314V|GMPR2_uc010alk.1_Missense_Mutation_p.A408V|GMPR2_uc010toe.1_Missense_Mutation_p.A408V	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2 isoform 2	347					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			ovary(3)	3				GBM - Glioblastoma multiforme(265;0.0181)		TTCAGTGAGGCGTGCTAGACC	0.542												
PRKD1	5587	broad.mit.edu	37	14	30194878	30194878	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:30194878G>T	uc001wqh.2	-	2	448	c.267C>A	c.(265-267)TTC>TTA	p.F89L		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	89					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CACATTCAGGGAACTGCAAAT	0.373												
TRIM9	114088	broad.mit.edu	37	14	51467458	51467458	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:51467458C>T	uc001wyx.3	-	6	2172	c.1407G>A	c.(1405-1407)ACG>ACA	p.T469T	TRIM9_uc001wyy.2_Silent_p.T465T|TRIM9_uc001wyz.3_Silent_p.T469T	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	469	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CGGCGGGCACCGTGGACAGAG	0.547												
TRIM9	114088	broad.mit.edu	37	14	51477173	51477173	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:51477173G>A	uc001wyx.3	-	4	1846	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C	TRIM9_uc001wyy.2_Missense_Mutation_p.R361C|TRIM9_uc001wyz.3_Missense_Mutation_p.R361C	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	361					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GTGGTCTGGCGCAATTTCACT	0.428												
TRIM9	114088	broad.mit.edu	37	14	51561501	51561501	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:51561501C>T	uc001wyx.3	-	1	922	c.157G>A	c.(157-159)GCG>ACG	p.A53T	TRIM9_uc001wyy.2_Missense_Mutation_p.A53T|TRIM9_uc001wyz.3_Missense_Mutation_p.A53T	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	53					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CCGGAGCCCGCGGCCCGATGG	0.632												
PTGER2	5732	broad.mit.edu	37	14	52781592	52781592	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:52781592G>A	uc001wzr.2	+	1	577	c.326G>A	c.(325-327)TGC>TAC	p.C109Y		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	109	Extracellular (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)	AGCCGCGCGTGCACCTACTTC	0.647												
SAMD4A	23034	broad.mit.edu	37	14	55169045	55169045	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:55169045G>A	uc001xbb.2	+	2	460	c.459G>A	c.(457-459)ACG>ACA	p.T153T	SAMD4A_uc001xba.2_Silent_p.T153T|SAMD4A_uc001xbc.2_Silent_p.T153T|SAMD4A_uc001xbf.1_RNA|SAMD4A_uc001xbe.2_Silent_p.T53T	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4 isoform	154					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0						AGGACCGCACGTCGACCAGCT	0.517												
TBPL2	387332	broad.mit.edu	37	14	55907244	55907244	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:55907244G>A	uc001xby.2	-	1	20	c.20C>T	c.(19-21)CCG>CTG	p.P7L		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	7					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						AACCCGCTCCGGCCAGGGCGC	0.692												
KTN1	3895	broad.mit.edu	37	14	56101377	56101377	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:56101377G>A	uc001xcb.2	+	10	1763	c.1461_splice	c.e10+1	p.K487_splice	KTN1_uc001xce.2_Splice_Site_p.K487_splice|KTN1_uc001xcc.2_Splice_Site_p.K487_splice|KTN1_uc001xcd.2_Splice_Site_p.K487_splice|KTN1_uc010trb.1_Splice_Site_p.K487_splice|KTN1_uc001xcf.1_Splice_Site_p.K487_splice	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a						microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						TCAGTTGAAGGTGATATATTC	0.284			T	RET	papillary thryoid							
SLC35F4	341880	broad.mit.edu	37	14	58063406	58063406	+	Silent	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:58063406T>C	uc001xdb.1	-	1	210	c.210A>G	c.(208-210)TTA>TTG	p.L70L	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Intron	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						CATAGTTACCTAAAAAGTTGG	0.373												
C14orf39	317761	broad.mit.edu	37	14	60938346	60938346	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:60938346A>G	uc001xez.3	-	6	545	c.435T>C	c.(433-435)CAT>CAC	p.H145H	C14orf39_uc010apo.2_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	145										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GAATTTCTTCATGTTCTCTTT	0.274												
SGPP1	81537	broad.mit.edu	37	14	64153092	64153092	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:64153092C>T	uc001xgj.2	-	3	1151	c.1057G>A	c.(1057-1059)GCT>ACT	p.A353T		NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	353						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GGGGGCCCAGCTAAAGGTAAT	0.403												
HSPA2	3306	broad.mit.edu	37	14	65007663	65007663	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:65007663C>T	uc001xhj.2	+	2	172	c.96C>T	c.(94-96)AAC>AAT	p.N32N	HSPA2_uc001xhk.3_Silent_p.N32N	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	32					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		TCATCGCCAACGACCAGGGCA	0.642												
SPTB	6710	broad.mit.edu	37	14	65250966	65250966	+	Missense_Mutation	SNP	G	G	A	rs113139501	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:65250966G>A	uc001xht.2	-	18	4055	c.4001C>T	c.(4000-4002)GCG>GTG	p.A1334V	SPTB_uc001xhr.2_Missense_Mutation_p.A1334V|SPTB_uc001xhs.2_Missense_Mutation_p.A1334V|SPTB_uc001xhu.2_Missense_Mutation_p.A1334V|SPTB_uc010aqi.2_5'Flank	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1334	Spectrin 10.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTTACTTACCGCATCGATGTT	0.537												
GPX2	2877	broad.mit.edu	37	14	65406456	65406456	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:65406456T>G	uc010tsn.1	-	3	410	c.323A>C	c.(322-324)AAT>ACT	p.N108T	CHURC1_uc010tsj.1_Intron|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|GPX2_uc001xhy.1_RNA	NM_002083	NP_002074	P18283	GPX2_HUMAN	glutathione peroxidase 2	108					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			ovary(1)	1				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GTTCTGCCCATTCACCTCACA	0.512												
GPHN	10243	broad.mit.edu	37	14	67490373	67490373	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:67490373G>T	uc001xiy.2	+	9	2009	c.888G>T	c.(886-888)AAG>AAT	p.K296N	GPHN_uc001xiw.2_Missense_Mutation_p.K311N|GPHN_uc001xix.2_Missense_Mutation_p.K329N|GPHN_uc010tss.1_Missense_Mutation_p.K342N|GPHN_uc010tst.1_Missense_Mutation_p.K265N|GPHN_uc010tsu.1_Missense_Mutation_p.K219N	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	296	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GCAGCAGCAAGGAGAACATTC	0.383			T	MLL	AL							
PSEN1	5663	broad.mit.edu	37	14	73637650	73637650	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:73637650G>A	uc001xnr.2	+	4	517	c.233G>A	c.(232-234)GGC>GAC	p.G78D	PSEN1_uc001xnv.2_Missense_Mutation_p.G74D|PSEN1_uc010ark.2_Missense_Mutation_p.G74D|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|PSEN1_uc001xnq.3_Missense_Mutation_p.G78D	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467	78	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TTGAAATATGGCGCCAAGCAT	0.527												
PAPLN	89932	broad.mit.edu	37	14	73730965	73730965	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:73730965G>A	uc010ttx.1	+	20	3071	c.2908G>A	c.(2908-2910)GCA>ACA	p.A970T	PAPLN_uc001xnw.3_Missense_Mutation_p.A943T|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.A954T|PAPLN_uc010arm.2_Missense_Mutation_p.A169T|PAPLN_uc010arn.2_Missense_Mutation_p.A170T	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	970	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCCCCTGCAGGCAGAGGACGC	0.637												
ENTPD5	957	broad.mit.edu	37	14	74454592	74454592	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:74454592G>A	uc010tuo.1	-	4	525	c.214C>T	c.(214-216)CCA>TCA	p.P72S	ENTPD5_uc001xpi.2_Missense_Mutation_p.P72S	NM_001249	NP_001240	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	72					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CACTTACCTGGCATTTTCTGC	0.433												
VSX2	338917	broad.mit.edu	37	14	74726453	74726453	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:74726453G>A	uc001xpq.2	+	4	818	c.728G>A	c.(727-729)GGC>GAC	p.G243D		NM_182894	NP_878314	P58304	VSX2_HUMAN	visual system homeobox 2	243	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GCCAAGGATGGCATCATGGAC	0.662												
LTBP2	4053	broad.mit.edu	37	14	74973512	74973512	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:74973512C>T	uc001xqa.2	-	27	4309	c.3922G>A	c.(3922-3924)GCC>ACC	p.A1308T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1308	Cys-rich.|EGF-like 15; 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)		GTGTCGTTGGCGCACTCGTCT	0.458												
NRXN3	9369	broad.mit.edu	37	14	79433671	79433671	+	Silent	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:79433671T>C	uc001xun.2	+	10	2270	c.1779T>C	c.(1777-1779)ACT>ACC	p.T593T	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.T718T	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	966	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATAGTAACACTCATAGCCTGA	0.438												
NRXN3	9369	broad.mit.edu	37	14	79434665	79434665	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:79434665G>A	uc001xun.2	+	11	2490	c.1999G>A	c.(1999-2001)GGA>AGA	p.G667R	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.G792R	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1040	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCATCGGAGCGGACAGATCGA	0.522												
FLRT2	23768	broad.mit.edu	37	14	86088724	86088724	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:86088724G>A	uc001xvr.2	+	2	1633	c.866G>A	c.(865-867)CGG>CAG	p.R289Q	FLRT2_uc010atd.2_Missense_Mutation_p.R289Q	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	289	Extracellular (Potential).|LRR 10.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AACCAACTGCGGATGCTGACT	0.458												
TDP1	55775	broad.mit.edu	37	14	90485721	90485721	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:90485721C>T	uc001xxy.2	+	15	1902	c.1603C>T	c.(1603-1605)CGC>TGC	p.R535C	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.R535C|TDP1_uc010atn.2_Missense_Mutation_p.R535C|TDP1_uc001xya.2_Missense_Mutation_p.R296C|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.R535C|TDP1_uc001xyd.1_Missense_Mutation_p.R150C	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	535					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GCTGATGATCCGCTCCTACGA	0.532								Repair_of_DNA-protein_crosslinks				
CCDC88C	440193	broad.mit.edu	37	14	91739837	91739837	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:91739837G>A	uc010aty.2	-	30	5318	c.5219C>T	c.(5218-5220)TCG>TTG	p.S1740L	CCDC88C_uc001xzj.2_Missense_Mutation_p.S264L|CCDC88C_uc001xzi.2_Missense_Mutation_p.S190L	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1740					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CCTCCCCTCCGAGGTGGGGGC	0.657												
BTBD7	55727	broad.mit.edu	37	14	93760990	93760990	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:93760990G>A	uc001ybo.2	-	3	702	c.376C>T	c.(376-378)CGG>TGG	p.R126W	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.R41W|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.R41W|BTBD7_uc001ybr.2_Missense_Mutation_p.R126W	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	126										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGCAATGTCCGGGCTTCTGGT	0.403												
OTUB2	78990	broad.mit.edu	37	14	94510329	94510329	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:94510329C>T	uc001yci.2	+	4	391	c.231C>T	c.(229-231)CGC>CGT	p.R77R		NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	77	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity				0		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		TCAAAGAACGCGTACTGCAGA	0.527												
DYNC1H1	1778	broad.mit.edu	37	14	102493861	102493861	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:102493861A>G	uc001yks.2	+	46	9192	c.9028A>G	c.(9028-9030)ACC>GCC	p.T3010A		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3010	AAA 4 (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						GCGAATGAATACCCTTCTGGC	0.453												
DYNC1H1	1778	broad.mit.edu	37	14	102494016	102494016	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:102494016G>A	uc001yks.2	+	47	9273	c.9109G>A	c.(9109-9111)GCA>ACA	p.A3037T		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3037	AAA 4 (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						CAAAGAGGGGGCACAGAAGGA	0.562												
DYNC1H1	1778	broad.mit.edu	37	14	102502908	102502908	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:102502908A>G	uc001yks.2	+	57	11001	c.10837A>G	c.(10837-10839)AGC>GGC	p.S3613G		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3613	AAA 5 (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						CACACGGACCAGCTTCCTGGA	0.483												
AMN	81693	broad.mit.edu	37	14	103390134	103390134	+	Missense_Mutation	SNP	G	G	A	rs138106067	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:103390134G>A	uc001ymg.3	+	2	163	c.130G>A	c.(130-132)GCC>ACC	p.A44T	AMN_uc001ymh.3_5'UTR	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	amnionless protein precursor	44	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane					0				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACCCCGTGCGCCGGCGGCGC	0.721												
CDC42BPB	9578	broad.mit.edu	37	14	103440432	103440432	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:103440432C>T	uc001ymi.1	-	12	1794	c.1562G>A	c.(1561-1563)CGT>CAT	p.R521H		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	521	Potential.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGAGTCCTCACGCTCTTGGCG	0.572												
PLD4	122618	broad.mit.edu	37	14	105397224	105397224	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:105397224G>A	uc001ypu.1	+	7	1004	c.863G>A	c.(862-864)CGT>CAT	p.R288H	PLD4_uc010tyl.1_Missense_Mutation_p.R295H	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	288					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CACTTCAACCGTTTCCAGCCC	0.577												
AHNAK2	113146	broad.mit.edu	37	14	105412495	105412495	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:105412495G>A	uc010axc.1	-	7	9413	c.9293C>T	c.(9292-9294)ACG>ATG	p.T3098M	AHNAK2_uc001ypx.2_Missense_Mutation_p.T2998M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3098						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGGGGCCGTCACGTCCGT	0.627												
NIPA2	81614	broad.mit.edu	37	15	23006790	23006790	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:23006790G>A	uc001yux.2	-	8	1127	c.514C>T	c.(514-516)CGC>TGC	p.R172C	NIPA2_uc001yuy.2_Missense_Mutation_p.R172C|NIPA2_uc001yuz.2_Missense_Mutation_p.R172C|NIPA2_uc001yva.2_Missense_Mutation_p.R153C|NIPA2_uc001yvb.2_Missense_Mutation_p.R172C|NIPA2_uc010ayb.2_Missense_Mutation_p.R153C	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	172	Cytoplasmic (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TGTCCATGGCGAGGACCCACC	0.463												
HERC2	8924	broad.mit.edu	37	15	28369270	28369270	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:28369270G>A	uc001zbj.2	-	85	13207	c.13101C>T	c.(13099-13101)TTC>TTT	p.F4367F		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4367					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)		CTTCCAGGTCGAACATGGGGA	0.567												
HERC2	8924	broad.mit.edu	37	15	28478342	28478342	+	Missense_Mutation	SNP	C	C	T	rs112385654	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:28478342C>T	uc001zbj.2	-	30	4731	c.4625G>A	c.(4624-4626)CGT>CAT	p.R1542H		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1542					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)		CCTCCTCCAACGGGGCAAAGA	0.373												
TRPM1	4308	broad.mit.edu	37	15	31323347	31323347	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:31323347A>G	uc001zfm.2	-	22	3028	c.2900T>C	c.(2899-2901)CTG>CCG	p.L967P	TRPM1_uc010azy.2_Missense_Mutation_p.L874P|TRPM1_uc001zfl.2_Intron	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	967	Helical; (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)		CACAAAGTACAGCATGTCGAT	0.498												
RYR3	6263	broad.mit.edu	37	15	33876610	33876610	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:33876610G>A	uc001zhi.2	+	15	1658	c.1588G>A	c.(1588-1590)GGA>AGA	p.G530R	RYR3_uc010bar.2_Missense_Mutation_p.G530R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	530	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTCATTCGCGGAAACAGAAA	0.408												
C15orf55	256646	broad.mit.edu	37	15	34645957	34645957	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:34645957A>G	uc001zif.2	+	4	1030	c.875A>G	c.(874-876)GAG>GGG	p.E292G	C15orf55_uc010ucc.1_Missense_Mutation_p.E320G|C15orf55_uc010ucd.1_Missense_Mutation_p.E310G	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	292						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TTTGAGGCTGAGGAGATGCAG	0.537			T	BRD3|BRD4	lethal midline carcinoma							
GPR176	11245	broad.mit.edu	37	15	40094180	40094180	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:40094180G>A	uc001zkj.1	-	3	1567	c.701C>T	c.(700-702)GCC>GTC	p.A234V	GPR176_uc010uck.1_Missense_Mutation_p.A174V	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	234	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTTCTGGCTGGCACTCAGGGC	0.582											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MGA	23269	broad.mit.edu	37	15	42005391	42005391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:42005391C>T	uc001zog.1	+	9	3218	c.3127C>T	c.(3127-3129)CGA>TGA	p.R1043*	MGA_uc010ucy.1_Nonsense_Mutation_p.R1043*|MGA_uc010ucz.1_Nonsense_Mutation_p.R1043*	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	1043						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CATAAGGAAACGAGCCCCTCC	0.488												
MGA	23269	broad.mit.edu	37	15	42041948	42041948	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:42041948C>T	uc010ucy.1	+	17	6324	c.6143C>T	c.(6142-6144)TCT>TTT	p.S2048F	MGA_uc010ucz.1_Missense_Mutation_p.S1839F|MGA_uc010uda.1_Missense_Mutation_p.S664F|MGA_uc001zoi.2_Missense_Mutation_p.S262F	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2009	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTCAAACCATCTGAGCATTCC	0.403												
SEMA6D	80031	broad.mit.edu	37	15	48063749	48063749	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:48063749C>T	uc010bek.2	+	19	3349	c.2989C>T	c.(2989-2991)CGT>TGT	p.R997C	SEMA6D_uc001zvw.2_Missense_Mutation_p.R935C|SEMA6D_uc001zvy.2_Missense_Mutation_p.R997C|SEMA6D_uc001zvz.2_Missense_Mutation_p.R941C|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.R935C|SEMA6D_uc001zwc.2_Missense_Mutation_p.R922C	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	997	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TAGTATGAACCGTGGAGGATA	0.473												
FBN1	2200	broad.mit.edu	37	15	48888508	48888508	+	Silent	SNP	G	G	A	rs111671429	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:48888508G>A	uc001zwx.1	-	6	838	c.510C>T	c.(508-510)TAC>TAT	p.Y170Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	170	EGF-like 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGTAAATCCGTAAGTGCATG	0.423												
SLC27A2	11001	broad.mit.edu	37	15	50515313	50515313	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:50515313C>T	uc001zxw.2	+	5	1356	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V	SLC27A2_uc010bes.2_Missense_Mutation_p.A322V|SLC27A2_uc001zxx.2_Missense_Mutation_p.A140V	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	375	Cytoplasmic (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATGAATTATGCGAGAAAAGTT	0.393												
USP8	9101	broad.mit.edu	37	15	50782631	50782631	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:50782631C>T	uc001zym.3	+	15	2643	c.2143C>T	c.(2143-2145)CGC>TGC	p.R715C	USP8_uc001zyl.3_Missense_Mutation_p.R715C|USP8_uc001zyn.3_Missense_Mutation_p.R715C|USP8_uc010ufh.1_Missense_Mutation_p.R609C|USP8_uc001zyp.3_5'Flank	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	715					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CAAACTGAAGCGCTCCTACTC	0.488												
AP4E1	23431	broad.mit.edu	37	15	51291352	51291352	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:51291352A>C	uc001zyx.1	+	19	3018	c.2988A>C	c.(2986-2988)AAA>AAC	p.K996N	AP4E1_uc010bex.1_Intron	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	996					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)		AGATAGAAAAACCTTTTACAG	0.353												
TMOD2	29767	broad.mit.edu	37	15	52058642	52058642	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:52058642G>A	uc002abk.2	+	2	225	c.4G>A	c.(4-6)GCA>ACA	p.A2T	TMOD2_uc002abl.3_Missense_Mutation_p.A2T|TMOD2_uc010bfb.2_5'UTR	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	2					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		AGAAGCCATGGCACTCCCCTT	0.378												
GNB5	10681	broad.mit.edu	37	15	52416738	52416738	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:52416738C>T	uc002abt.1	-	12	1173	c.1108G>A	c.(1108-1110)GTT>ATT	p.V370I	GNB5_uc002abr.1_Missense_Mutation_p.V328I|GNB5_uc002abs.1_Missense_Mutation_p.V258I	NM_016194	NP_057278	O14775	GBB5_HUMAN	guanine nucleotide-binding protein, beta-5	370	WD 7.					heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)	1				all cancers(107;0.0163)		AGAGTGCTAACGCGGTTTTCA	0.498												
VPS13C	54832	broad.mit.edu	37	15	62182509	62182509	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:62182509C>T	uc002agz.2	-	67	9270	c.9196G>A	c.(9196-9198)GAT>AAT	p.D3066N	VPS13C_uc002aha.2_Missense_Mutation_p.D3023N|VPS13C_uc002ahb.1_Missense_Mutation_p.D3066N|VPS13C_uc002ahc.1_Missense_Mutation_p.D3023N	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3066					protein localization					ovary(2)	2						GCAACATCATCGGTGAAAAGC	0.458												
RBPMS2	348093	broad.mit.edu	37	15	65041646	65041646	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:65041646G>A	uc002anq.2	-	4	503	c.251C>T	c.(250-252)GCC>GTC	p.A84V		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	84	RRM.						nucleic acid binding|nucleotide binding				0						CGCATTCTTGGCCGCTTCTGC	0.507												
CILP	8483	broad.mit.edu	37	15	65490415	65490415	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:65490415G>A	uc002aon.2	-	9	2390	c.2209C>T	c.(2209-2211)CGT>TGT	p.R737C		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	737					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						CTCCTCTCACGAATCTCCAGG	0.498												
LBXCOR1	390598	broad.mit.edu	37	15	68120209	68120209	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:68120209C>T	uc002aqy.1	+	3	1911	c.1911C>T	c.(1909-1911)AGC>AGT	p.S637S		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	681					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						CCGAGCCCAGCGCACCCAGCG	0.701												
UACA	55075	broad.mit.edu	37	15	70959701	70959701	+	Nonsense_Mutation	SNP	G	G	A	rs143154561		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:70959701G>A	uc002asr.2	-	16	3426	c.3322C>T	c.(3322-3324)CAA>TAA	p.Q1108*	UACA_uc010uke.1_Nonsense_Mutation_p.Q999*|UACA_uc002asq.2_Nonsense_Mutation_p.Q1095*|UACA_uc010bin.1_Nonsense_Mutation_p.Q1083*	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	1108	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						TGTTGTTTTTGCAAAAGATTT	0.368												
THSD4	79875	broad.mit.edu	37	15	72023519	72023519	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:72023519C>T	uc002atb.1	+	9	1672	c.1593C>T	c.(1591-1593)AAC>AAT	p.N531N	THSD4_uc002atd.1_3'UTR|THSD4_uc010ukg.1_Silent_p.N171N|THSD4_uc002ate.2_Silent_p.N171N	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	531						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						TGGGGACCAACGCCATCAGCC	0.547											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
THSD4	79875	broad.mit.edu	37	15	72030245	72030245	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:72030245C>T	uc002atb.1	+	10	1884	c.1805C>T	c.(1804-1806)CCG>CTG	p.P602L	THSD4_uc010ukg.1_Missense_Mutation_p.P242L|THSD4_uc002ate.2_Missense_Mutation_p.P242L	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	602						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CCCCATCGACCGGACAACTTG	0.587												
NPTN	27020	broad.mit.edu	37	15	73889561	73889561	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:73889561C>A	uc002avs.2	-	2	438	c.241G>T	c.(241-243)GGT>TGT	p.G81C	NPTN_uc010bjc.2_Missense_Mutation_p.G81C|NPTN_uc002avt.2_Intron|NPTN_uc002avr.2_Intron|NPTN_uc010ula.1_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	81	Ig-like 1.|Extracellular (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						TTCCGAGCACCGTCCCACAGC	0.592												
CSK	1445	broad.mit.edu	37	15	75093411	75093411	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:75093411G>A	uc010bkb.1	+	10	964	c.781G>A	c.(781-783)GGG>AGG	p.G261R	CSK_uc002ays.2_Missense_Mutation_p.G261R|CSK_uc010bkc.1_Missense_Mutation_p.G70R	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	261	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						GGAGAAGGGCGGGCTCTACAT	0.637												
ADAMTS7	11173	broad.mit.edu	37	15	79057995	79057995	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:79057995A>G	uc002bej.3	-	19	4469	c.4258T>C	c.(4258-4260)TGG>CGG	p.W1420R	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1420	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						GCCTCGCTCCAGTTTCCCGCT	0.652												
ADAMTS7	11173	broad.mit.edu	37	15	79092648	79092648	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:79092648G>A	uc002bej.3	-	2	553	c.342C>T	c.(340-342)GGC>GGT	p.G114G	ADAMTS7_uc010und.1_Silent_p.G114G|ADAMTS7_uc002bek.1_Silent_p.G114G	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	114					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						ggcccaggccgccgcgccgcc	0.577												
KIAA1024	23251	broad.mit.edu	37	15	79750690	79750690	+	Missense_Mutation	SNP	G	G	A	rs140205068	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:79750690G>A	uc002bew.1	+	2	2276	c.2201G>A	c.(2200-2202)CGC>CAC	p.R734H	KIAA1024_uc010unk.1_Missense_Mutation_p.R734H	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	734						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						AGAGACTGGCGCACCATCACT	0.502												
MEX3B	84206	broad.mit.edu	37	15	82335714	82335714	+	Silent	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:82335714G>T	uc002bgq.1	-	2	1812	c.1497C>A	c.(1495-1497)TCC>TCA	p.S499S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	499					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						agctggaggaggagctggacg	0.517												
ABHD2	11057	broad.mit.edu	37	15	89698699	89698699	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:89698699G>A	uc002bnj.2	+	10	1389	c.472G>A	c.(472-474)GCC>ACC	p.A158T	ABHD2_uc002bnk.2_Missense_Mutation_p.A158T	NM_007011	NP_008942	P08910	ABHD2_HUMAN	alpha/beta hydrolase domain containing protein	158						integral to membrane	carboxylesterase activity			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTATCGGTGCGCCGTGCTGAA	0.517												
FANCI	55215	broad.mit.edu	37	15	89801983	89801983	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:89801983G>A	uc010bnp.1	+	3	223	c.133G>A	c.(133-135)GCA>ACA	p.A45T	FANCI_uc002bnm.1_Missense_Mutation_p.A45T|FANCI_uc002bnn.1_RNA|FANCI_uc002bno.2_Missense_Mutation_p.A45T	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	45					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGTTGCTGGAGCACTCCTGAG	0.378								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
IGF1R	3480	broad.mit.edu	37	15	99482585	99482585	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:99482585C>T	uc002bul.2	+	18	3503	c.3453C>T	c.(3451-3453)ATC>ATT	p.I1151I	IGF1R_uc010bon.2_Silent_p.I1150I	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1151	Protein kinase.|Cytoplasmic (Potential).				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CAGTCAAAATCGGAGGTGTGT	0.493												
WDR90	197335	broad.mit.edu	37	16	712018	712018	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:712018G>A	uc002cii.1	+	32	4046	c.3992G>A	c.(3991-3993)GGC>GAC	p.G1331D	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.G858D|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.G505D|WDR90_uc002cin.1_5'UTR|WDR90_uc010uul.1_5'Flank|WDR90_uc002cio.1_5'Flank|WDR90_uc010bqx.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1331	WD 16.									ovary(1)	1		Hepatocellular(780;0.0218)				ACGCGTGCCGGCCGCTGCTTC	0.662												
C1QTNF8	390664	broad.mit.edu	37	16	1143669	1143669	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:1143669G>A	uc010uuw.1	-	4	865	c.591C>T	c.(589-591)AGC>AGT	p.S197S		NM_207419	NP_997302	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	197	C1q.					collagen				skin(1)	1		Hepatocellular(780;0.00369)				CGCTGCGCTCGCTGGGCTGCG	0.667												
CLCN7	1186	broad.mit.edu	37	16	1500643	1500643	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:1500643C>T	uc002clv.2	-	17	1582	c.1472G>A	c.(1471-1473)GGC>GAC	p.G491D	CLCN7_uc010brq.1_5'Flank|CLCN7_uc002clu.2_5'Flank|CLCN7_uc002clw.2_Missense_Mutation_p.G467D	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	491	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				CGTGAACAGGCCGAGGGTCAG	0.677												
CRAMP1L	57585	broad.mit.edu	37	16	1710001	1710001	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:1710001C>T	uc010uvh.1	+	10	2350	c.2350C>T	c.(2350-2352)CGG>TGG	p.R784W	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	784						nucleus	DNA binding				0						CCGCTGCCCTCGGAACCAGGC	0.672												
RPL3L	6123	broad.mit.edu	37	16	2004022	2004022	+	Missense_Mutation	SNP	G	G	A	rs148367011		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:2004022G>A	uc002cnh.2	-	2	178	c.131C>T	c.(130-132)ACG>ATG	p.T44M		NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	44					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						CAGGAAGGCCGTGAGGTGCAC	0.697												
PKD1	5310	broad.mit.edu	37	16	2142541	2142541	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:2142541C>A	uc002cos.1	-	39	11418	c.11209G>T	c.(11209-11211)GGG>TGG	p.G3737W	PKD1_uc002cot.1_Missense_Mutation_p.G3736W|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3737	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GACTGGTTCCCGTGGACGTAG	0.667												
PKD1	5310	broad.mit.edu	37	16	2153317	2153317	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:2153317C>T	uc002cos.1	-	23	8950	c.8741G>A	c.(8740-8742)AGC>AAC	p.S2914N	PKD1_uc002cot.1_Missense_Mutation_p.S2914N|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2914	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CGCAGGGTTGCTGCTGTCCAG	0.701												
PRSS27	83886	broad.mit.edu	37	16	2763683	2763683	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:2763683C>T	uc002crf.2	-	5	916	c.525G>A	c.(523-525)CCG>CCA	p.P175P	PRSS27_uc002cre.2_Silent_p.P139P|PRSS27_uc002crg.2_Silent_p.P73P|PRSS27_uc010bst.1_Silent_p.P73P	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	marapsin precursor	175	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						GCAGGATCCGCGGTTCGGGCA	0.597												
ZNF205	7755	broad.mit.edu	37	16	3170056	3170056	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:3170056G>A	uc002cub.2	+	7	1530	c.1395G>A	c.(1393-1395)GCG>GCA	p.A465A	ZNF205_uc002cua.2_Silent_p.A465A	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	465	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						ACCTCATCGCGCACAACCGCA	0.662												
TFAP4	7023	broad.mit.edu	37	16	4308231	4308231	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:4308231C>T	uc010uxg.1	-	7	1096	c.842G>A	c.(841-843)GGC>GAC	p.G281D		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	281					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						TTCCTGGGTGCCCTCGATGTG	0.662												
ANKS3	124401	broad.mit.edu	37	16	4749151	4749151	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:4749151G>A	uc002cxj.1	-	12	1606	c.1311C>T	c.(1309-1311)ATC>ATT	p.I437I	ANKS3_uc010uxr.1_5'UTR|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Silent_p.I364I|ANKS3_uc002cxk.2_Silent_p.I308I|ANKS3_uc002cxl.2_Silent_p.I264I|ANKS3_uc010uxs.1_Silent_p.I364I	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	437	SAM.										0						TCAGACACCCGATCTGCTCCA	0.587												
PPL	5493	broad.mit.edu	37	16	4949045	4949045	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:4949045G>A	uc002cyd.1	-	8	935	c.845C>T	c.(844-846)GCG>GTG	p.A282V		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	282	Potential.|Spectrin 1.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GTGCTCGGCCGCCAGCAGCTG	0.642												
SEC14L5	9717	broad.mit.edu	37	16	5046950	5046950	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:5046950G>A	uc002cye.2	+	8	1055	c.875G>A	c.(874-876)CGC>CAC	p.R292H		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	292						integral to membrane|intracellular	transporter activity				0						TTGAGCTGGCGCAAGCAGCAC	0.597												
C16orf68	79091	broad.mit.edu	37	16	8722946	8722946	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:8722946C>A	uc002cyz.2	+	3	769	c.493C>A	c.(493-495)CCG>ACG	p.P165T	C16orf68_uc002cza.2_Missense_Mutation_p.P109T	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	165							methyltransferase activity				0						ACAAGGCAGCCCGCACGATAT	0.532												
GRIN2A	2903	broad.mit.edu	37	16	9857479	9857479	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:9857479A>G	uc002czo.3	-	13	4470	c.3922T>C	c.(3922-3924)TCC>CCC	p.S1308P	GRIN2A_uc010uym.1_Missense_Mutation_p.S1308P|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1308	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1308S(1)		skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCTCCGGGAGGGCCTGCTA	0.488												
TEKT5	146279	broad.mit.edu	37	16	10721460	10721460	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:10721460G>A	uc002czz.1	-	7	1510	c.1438C>T	c.(1438-1440)CGC>TGC	p.R480C		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	480					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						CCCACCAGGCGCGGGGTGCAG	0.572												
ZC3H7A	29066	broad.mit.edu	37	16	11858938	11858938	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:11858938C>T	uc002dbk.2	-	14	1989	c.1791G>A	c.(1789-1791)CCG>CCA	p.P597P	ZC3H7A_uc002dbj.2_RNA|ZC3H7A_uc002dbl.2_Silent_p.P597P|ZC3H7A_uc002dbm.1_Silent_p.P507P	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	597						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						GCTTTGTAACCGGGTGAGAAC	0.284												
PDXDC1	23042	broad.mit.edu	37	16	15122809	15122809	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:15122809G>A	uc002dda.3	+	15	1503	c.1279G>A	c.(1279-1281)GCG>ACG	p.A427T	PDXDC1_uc010uzl.1_Missense_Mutation_p.A412T|PDXDC1_uc010uzm.1_Missense_Mutation_p.A336T|PDXDC1_uc002dcz.2_Missense_Mutation_p.A404T|PDXDC1_uc002ddb.3_Missense_Mutation_p.A400T|PDXDC1_uc010uzn.1_Missense_Mutation_p.A399T|PDXDC1_uc002ddc.2_Missense_Mutation_p.A427T	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	427					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CTCGTGTGACGCGCTGAATCG	0.587												
ABCC1	4363	broad.mit.edu	37	16	16162051	16162051	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:16162051C>T	uc010bvi.2	+	13	1891	c.1716C>T	c.(1714-1716)GAC>GAT	p.D572D	ABCC1_uc010bvj.2_Silent_p.D572D|ABCC1_uc010bvk.2_Silent_p.D572D|ABCC1_uc010bvl.2_Silent_p.D572D|ABCC1_uc010bvm.2_Silent_p.D572D|ABCC1_uc002del.3_Silent_p.D456D	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	572	ABC transmembrane type-1 1.|Extracellular.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGACCATTGACGAGAACAACA	0.552												
GP2	2813	broad.mit.edu	37	16	20335195	20335195	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:20335195C>T	uc002dgv.2	-	3	561	c.478G>A	c.(478-480)GGG>AGG	p.G160R	GP2_uc002dgw.2_Missense_Mutation_p.G160R|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	160						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						ACATGGTACCCGCCTGGGCAG	0.577												
DNAH3	55567	broad.mit.edu	37	16	21053366	21053366	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:21053366G>A	uc010vbe.1	-	32	4621	c.4621C>T	c.(4621-4623)CTG>TTG	p.L1541L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1541	AAA 1 (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)		TTGTCGGGCAGTTCAGCCCTG	0.418												
ERN2	10595	broad.mit.edu	37	16	23703620	23703620	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:23703620G>A	uc002dma.3	-	18	2446	c.2277C>T	c.(2275-2277)TGC>TGT	p.C759C	ERN2_uc010bxp.2_Silent_p.C707C	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	711	Protein kinase.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGTAGAACACGCAGCCTGCAG	0.557												
C16orf82	162083	broad.mit.edu	37	16	27078694	27078694	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:27078694G>T	uc010vcm.1	+	1	476	c.378G>T	c.(376-378)CAG>CAT	p.Q126H		NM_001145545	NP_001139017	Q7Z2V1	TNT_HUMAN	hypothetical protein LOC162083	189											0						AAACCAGCCAGCTGGGCTCCA	0.642												
SBK1	388228	broad.mit.edu	37	16	28328881	28328881	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:28328881C>T	uc002dpd.2	+	2	958	c.169C>T	c.(169-171)CGG>TGG	p.R57W		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	57	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						CGAACTAGTCCGGGAGCTGGG	0.627											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SBK1	388228	broad.mit.edu	37	16	28331811	28331811	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:28331811C>T	uc002dpd.2	+	4	1633	c.844C>T	c.(844-846)CGC>TGC	p.R282C		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	282	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						TTCGCAGTGGCGCCGCTTCAC	0.726												
ATP2A1	487	broad.mit.edu	37	16	28898806	28898806	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:28898806G>A	uc002dro.1	+	8	875	c.691G>A	c.(691-693)GAG>AAG	p.E231K	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.E231K|ATP2A1_uc002drp.1_Missense_Mutation_p.E106K|ATP2A1_uc010bym.1_5'Flank	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	231	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|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	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGTGGGCACCGAGATTGGGAA	0.587												
ZNF768	79724	broad.mit.edu	37	16	30535842	30535842	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:30535842C>T	uc002dyk.3	-	2	1795	c.1619G>A	c.(1618-1620)CGC>CAC	p.R540H	ZNF768_uc010vex.1_Missense_Mutation_p.R509H|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.R509H	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	540					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						CCCAGGTCAGCGCCGGCCCGC	0.662												
ZNF764	92595	broad.mit.edu	37	16	30566768	30566768	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:30566768C>T	uc002dyq.2	-	3	1055	c.974G>A	c.(973-975)CGC>CAC	p.R325H	ZNF764_uc002dyr.1_Missense_Mutation_p.R324H	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	zinc finger protein 764	325	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CGAGCTCTGGCGGAAGCAGCG	0.731												
SRCAP	10847	broad.mit.edu	37	16	30732093	30732093	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:30732093G>A	uc002dze.1	+	20	3432	c.3047G>A	c.(3046-3048)CGG>CAG	p.R1016Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R873Q|SRCAP_uc010bzz.1_Missense_Mutation_p.R586Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1016	Pro-rich.				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)			AACAACCCACGGGCGCCCCTG	0.612												
STX4	6810	broad.mit.edu	37	16	31050934	31050934	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:31050934G>A	uc002eal.2	+	9	999	c.775G>A	c.(775-777)GTC>ATC	p.V259I	STX4_uc002eak.2_Missense_Mutation_p.V257I|STX4_uc002eam.2_Missense_Mutation_p.V181I|uc002ean.1_5'Flank	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	259	Cytoplasmic (Potential).|Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology.				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0						GCAGGAGCACGTCAAGACGGC	0.617												
PRSS8	5652	broad.mit.edu	37	16	31143904	31143904	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:31143904G>A	uc002ebc.3	-	5	883	c.551C>T	c.(550-552)ACG>ATG	p.T184M	PRSS8_uc010vfe.1_Missense_Mutation_p.T130M	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	prostasin preproprotein	184	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity				0						TGGCTTGGGCGTCAGGAGGCT	0.612												
PRSS8	5652	broad.mit.edu	37	16	31144063	31144063	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:31144063C>T	uc002ebc.3	-	4	810	c.478G>A	c.(478-480)GCC>ACC	p.A160T	PRSS8_uc010vfe.1_Missense_Mutation_p.A106T	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	prostasin preproprotein	160	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity				0						GGGAAGGAGGCGTTGGCTGCA	0.657												
CES7	221223	broad.mit.edu	37	16	55905570	55905570	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:55905570C>T	uc002eip.2	-	3	533	c.384G>A	c.(382-384)GCG>GCA	p.A128A	CES7_uc002eio.2_Silent_p.A128A|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.A22A	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	128						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		CGTGGGCAGGCGCATAGATGT	0.562												
CDH5	1003	broad.mit.edu	37	16	66424419	66424419	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:66424419C>T	uc002eom.3	+	6	1051	c.895C>T	c.(895-897)CGG>TGG	p.R299W	CDH5_uc002eon.1_Missense_Mutation_p.R299W	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	299	Cadherin 3.|Extracellular (Potential).				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)		CAGCATCTTGCGGGGCGACTA	0.562												
CDH5	1003	broad.mit.edu	37	16	66436801	66436801	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:66436801C>T	uc002eom.3	+	12	2240	c.2084C>T	c.(2083-2085)GCG>GTG	p.A695V		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	695	Cytoplasmic (Potential).				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)		CCGAGGCACGCGCCTGGGGCA	0.572												
C16orf70	80262	broad.mit.edu	37	16	67178213	67178213	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:67178213C>T	uc002erc.2	+	12	980	c.896C>T	c.(895-897)GCG>GTG	p.A299V	C16orf70_uc002erd.2_Missense_Mutation_p.A299V	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	299										ovary(2)	2		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CTCTTTGATGCGAATACACAC	0.458												
SLC9A5	6553	broad.mit.edu	37	16	67304828	67304828	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:67304828G>A	uc002esm.2	+	16	2469	c.2406G>A	c.(2404-2406)GCG>GCA	p.A802A	SLC9A5_uc010cee.2_Silent_p.A507A|SLC9A5_uc010vji.1_Silent_p.A306A	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	802					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGAGCCTAGCGTCCCCTCCCT	0.607												
GFOD2	81577	broad.mit.edu	37	16	67709441	67709441	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:67709441G>A	uc002eub.2	-	3	1070	c.775C>T	c.(775-777)CGC>TGC	p.R259C	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.R154C	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	259						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)		GCGACGAGGCGTCCTGCAGAG	0.612												
GFOD2	81577	broad.mit.edu	37	16	67709700	67709700	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:67709700G>A	uc002eub.2	-	3	811	c.516C>T	c.(514-516)GGC>GGT	p.G172G	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Silent_p.G67G	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	172						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)		GCAAGCCCCCGCCGCCCATGA	0.607												
SLC12A4	6560	broad.mit.edu	37	16	67982038	67982038	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:67982038G>A	uc002euz.2	-	14	1914	c.1773C>T	c.(1771-1773)TTC>TTT	p.F591F	SLC12A4_uc010ceu.2_Silent_p.F585F|SLC12A4_uc010vkh.1_Silent_p.F560F|SLC12A4_uc010vki.1_Silent_p.F591F|SLC12A4_uc010vkj.1_Silent_p.F593F|SLC12A4_uc002eva.2_Silent_p.F591F|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	591	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGAGGTTCACGAACAGGTAGC	0.632												
SLC7A6	9057	broad.mit.edu	37	16	68330568	68330568	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:68330568C>T	uc002evt.1	+	11	1617	c.1308C>T	c.(1306-1308)TCC>TCT	p.S436S	SLC7A6_uc002evu.1_Silent_p.S436S|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid	436	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GCATATGCTCCGTGTTTCTGG	0.488												
VPS4A	27183	broad.mit.edu	37	16	69353359	69353359	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:69353359A>C	uc002eww.2	+	6	661	c.533A>C	c.(532-534)AAA>ACA	p.K178T		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting factor 4A	178					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding				0		Ovarian(137;0.101)				TACCTGGCCAAAGCCGTGGCA	0.582												
DHX38	9785	broad.mit.edu	37	16	72132685	72132685	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:72132685G>A	uc002fcb.2	+	5	1113	c.758G>A	c.(757-759)CGA>CAA	p.R253Q	DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_RNA	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	253					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)				ACTCGAGATCGAGACAGGTGA	0.627												
WDR59	79726	broad.mit.edu	37	16	74943405	74943405	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:74943405C>A	uc002fdh.1	-	16	1738	c.1636G>T	c.(1636-1638)GGA>TGA	p.G546*	WDR59_uc002fdi.2_Nonsense_Mutation_p.G546*|WDR59_uc002fdg.1_Nonsense_Mutation_p.G138*	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	546										ovary(1)|breast(1)	2						CCACCTGCTCCGCAGAACCTG	0.507												
CNTNAP4	85445	broad.mit.edu	37	16	76555095	76555095	+	Silent	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:76555095C>A	uc002feu.1	+	18	2809	c.2424C>A	c.(2422-2424)ACC>ACA	p.T808T	CNTNAP4_uc002fev.1_Silent_p.T672T|CNTNAP4_uc010chb.1_Silent_p.T735T|CNTNAP4_uc002fex.1_Silent_p.T811T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	808	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						ATTTTCCTACCTTCCACGGAG	0.353												
HSDL1	83693	broad.mit.edu	37	16	84163781	84163781	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:84163781G>A	uc002fhk.2	-	4	660	c.476C>T	c.(475-477)CCG>CTG	p.P159L	HSDL1_uc010vnv.1_Intron	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	159						mitochondrion	oxidoreductase activity|protein binding				0						GAAATACTGCGGGTAGGGATA	0.488												
COX4I1	1327	broad.mit.edu	37	16	85839345	85839345	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:85839345G>A	uc002fje.2	+	4	412	c.248G>A	c.(247-249)CGC>CAC	p.R83H	COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_Missense_Mutation_p.R83H|COX4I1_uc010vom.1_Missense_Mutation_p.R50H	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	83					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)				CCAGTGTATCGCATTAAGTTC	0.537												
COX4I1	1327	broad.mit.edu	37	16	85839428	85839428	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:85839428A>G	uc002fje.2	+	4	495	c.331A>G	c.(331-333)ATC>GTC	p.I111V	COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_Missense_Mutation_p.I111V|COX4I1_uc010vom.1_Missense_Mutation_p.I78V	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	111					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)				CATGTTCTTCATCGGTTTCAC	0.572												
FOXC2	2303	broad.mit.edu	37	16	86601223	86601223	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:86601223C>T	uc002fjq.2	+	1	367	c.282C>T	c.(280-282)ACC>ACT	p.T94T		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	94	Fork-head.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0						AGAAGATCACCTTGAACGGCA	0.602									Late-onset_Hereditary_Lymphedema			
FOXC2	2303	broad.mit.edu	37	16	86602288	86602288	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:86602288C>T	uc002fjq.2	+	1	1432	c.1347C>T	c.(1345-1347)AAC>AAT	p.N449N		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	449					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0						CTTTCCCCAACGTGCGGGAGA	0.607									Late-onset_Hereditary_Lymphedema			
BANP	54971	broad.mit.edu	37	16	88066741	88066741	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:88066741G>A	uc002fkr.2	+	9	1287	c.1063G>A	c.(1063-1065)GCC>ACC	p.A355T	BANP_uc002fkp.2_Missense_Mutation_p.A325T|BANP_uc002fkq.2_Missense_Mutation_p.A325T|BANP_uc010vow.1_Missense_Mutation_p.A363T|BANP_uc002fks.3_Missense_Mutation_p.A324T|BANP_uc002fko.1_Missense_Mutation_p.A261T|BANP_uc010vov.1_Missense_Mutation_p.A330T	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	356	DNA-binding (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCACCTCCTGCCAGCGAGCT	0.632												
ANKRD11	29123	broad.mit.edu	37	16	89348416	89348416	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:89348416G>A	uc002fmx.1	-	9	4995	c.4534C>T	c.(4534-4536)CGC>TGC	p.R1512C	ANKRD11_uc002fmy.1_Missense_Mutation_p.R1512C|ANKRD11_uc002fnc.1_Missense_Mutation_p.R1512C|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.R1469C	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1512	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGAGCACGCGGGGCGGGCTG	0.637												
TUBB3	10381	broad.mit.edu	37	16	90001326	90001326	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:90001326G>A	uc002fph.1	+	4	532	c.467G>A	c.(466-468)CGT>CAT	p.R156H	TUBB3_uc002fpf.2_Missense_Mutation_p.R503H|TUBB3_uc010ciz.1_Missense_Mutation_p.R84H|TUBB3_uc002fpg.1_Missense_Mutation_p.R10H|TUBB3_uc002fpi.1_Missense_Mutation_p.R84H|TUBB3_uc002fpj.1_Missense_Mutation_p.R84H|TUBB3_uc010cjb.1_Missense_Mutation_p.R10H|TUBB3_uc002fpk.1_Missense_Mutation_p.R10H	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	156					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGCAAGGTGCGTGAGGAGTAT	0.632												
ABR	29	broad.mit.edu	37	17	994924	994924	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:994924C>T	uc002fsd.2	-	4	622	c.512G>A	c.(511-513)GGC>GAC	p.G171D	ABR_uc002fse.2_Missense_Mutation_p.G125D|ABR_uc002fsg.2_Missense_Mutation_p.G134D|ABR_uc002fsh.1_Missense_Mutation_p.G55D|ABR_uc010cjq.1_Missense_Mutation_p.G183D	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	171	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GAAGAGGTGGCCCATGGTGAC	0.572												
SLC43A2	124935	broad.mit.edu	37	17	1518295	1518295	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:1518295C>T	uc002fsv.2	-	4	491	c.402G>A	c.(400-402)GCG>GCA	p.A134A	SLC43A2_uc002fsu.2_Silent_p.A134A|SLC43A2_uc002fsw.2_Silent_p.A134A|SLC43A2_uc002fsx.2_Silent_p.A134A	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	134	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TTGCTCCGTACGCAATCAGCA	0.493												
RILP	83547	broad.mit.edu	37	17	1552944	1552944	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:1552944G>A	uc002ftd.2	-	1	449	c.155C>T	c.(154-156)GCC>GTC	p.A52V		NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	52					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCAGCCCGGCCGCCGCCTC	0.736												
RTN4RL1	146760	broad.mit.edu	37	17	1928168	1928168	+	Translation_Start_Site	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:1928168C>T	uc002ftp.2	-	1	11	c.-8G>A	c.(-10--6)CCGTG>CCATG			NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor						axon regeneration	anchored to plasma membrane	receptor activity				0						ATGTTGGCCACGGGGCCGCCG	0.587												
TRPV1	7442	broad.mit.edu	37	17	3493653	3493653	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:3493653C>T	uc010vrr.1	-	4	1165	c.638G>A	c.(637-639)CGC>CAC	p.R213H	TRPV1_uc010vro.1_Missense_Mutation_p.R213H|TRPV1_uc010vrp.1_Missense_Mutation_p.R213H|TRPV1_uc010vrq.1_Missense_Mutation_p.R211H|TRPV1_uc010vrs.1_Missense_Mutation_p.R213H|TRPV1_uc010vrt.1_Missense_Mutation_p.R213H|TRPV1_uc010vru.1_Missense_Mutation_p.R213H	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	213	ANK 3.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GGCCATGTTGCGTCTCTCGAT	0.632												
ZMYND15	84225	broad.mit.edu	37	17	4646746	4646746	+	Silent	SNP	C	C	T	rs147604131		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:4646746C>T	uc002fyt.2	+	6	1332	c.1293C>T	c.(1291-1293)CGC>CGT	p.R431R	ZMYND15_uc002fyv.2_Silent_p.R431R|ZMYND15_uc002fyu.2_Silent_p.R431R	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	431							zinc ion binding				0						GCCTTCTTCGCGGTGGTGCGT	0.617												
VMO1	284013	broad.mit.edu	37	17	4688915	4688915	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:4688915G>A	uc002fyx.2	-	3	433	c.351C>T	c.(349-351)GGC>GGT	p.G117G	VMO1_uc010vsh.1_3'UTR|VMO1_uc010vsi.1_3'UTR|VMO1_uc002fyy.2_3'UTR	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 isoform 1	117					vitelline membrane formation	extracellular region				ovary(1)	1						CTAGGTAGGCGCCGCCGCGAC	0.647												
CAMTA2	23125	broad.mit.edu	37	17	4877058	4877058	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:4877058C>A	uc002gah.1	-	13	2131	c.2023G>T	c.(2023-2025)GGC>TGC	p.G675C	CAMTA2_uc010cku.1_Missense_Mutation_p.G698C|CAMTA2_uc002gag.1_Missense_Mutation_p.G674C|CAMTA2_uc002gai.1_Missense_Mutation_p.G677C|CAMTA2_uc010ckv.1_Missense_Mutation_p.G322C	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	675					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						GGCCCCTGGCCTTCATCCTGC	0.582												
USP6	9098	broad.mit.edu	37	17	5071348	5071348	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:5071348A>G	uc002gau.1	+	34	5388	c.3158A>G	c.(3157-3159)TAC>TGC	p.Y1053C	USP6_uc002gav.1_Missense_Mutation_p.Y1053C|USP6_uc010ckz.1_Missense_Mutation_p.Y736C	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	1053					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						GAGATGTACTACTGTTCCAAG	0.547			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts							
PITPNM3	83394	broad.mit.edu	37	17	6367524	6367524	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:6367524C>A	uc002gdd.3	-	16	2273	c.2122G>T	c.(2122-2124)GGG>TGG	p.G708W	PITPNM3_uc010cln.2_Missense_Mutation_p.G672W|PITPNM3_uc010clm.2_Missense_Mutation_p.G191W|PITPNM3_uc002gdc.3_Missense_Mutation_p.G299W	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	708					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		ACACCAACCCCCAGGCGCCGG	0.587												
ZBTB4	57659	broad.mit.edu	37	17	7369878	7369878	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:7369878G>A	uc002ghc.3	-	3	493	c.243C>T	c.(241-243)ACC>ACT	p.T81T	ZBTB4_uc002ghd.3_Silent_p.T81T	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	81	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		aGGCAGCTGTGGTGGTGGCAG	0.393												
ALOX12B	242	broad.mit.edu	37	17	7976518	7976518	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:7976518G>A	uc002gjy.1	-	14	2135	c.1874C>T	c.(1873-1875)ACG>ATG	p.T625M		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	625	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						CGTGATGCACGTGGTCTTCAC	0.612										Multiple Myeloma(8;0.094)		
ALOX12B	242	broad.mit.edu	37	17	7976593	7976593	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:7976593C>T	uc002gjy.1	-	14	2060	c.1799G>A	c.(1798-1800)CGG>CAG	p.R600Q		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	600	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						CGGTGGATTCCGCATGGACGC	0.587										Multiple Myeloma(8;0.094)		
PFAS	5198	broad.mit.edu	37	17	8158873	8158873	+	Silent	SNP	C	C	T	rs150219874	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:8158873C>T	uc002gkr.2	+	5	579	c.438C>T	c.(436-438)CAC>CAT	p.H146H	PFAS_uc010vuv.1_Intron	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	146					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTACCCTGCACGACCGGATGA	0.572												
KRBA2	124751	broad.mit.edu	37	17	8273459	8273459	+	Missense_Mutation	SNP	G	G	A	rs150010343		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:8273459G>A	uc002glf.1	-	2	478	c.472C>T	c.(472-474)CGT>TGT	p.R158C	KRBA2_uc002glg.1_Missense_Mutation_p.R75C	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	158					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding				0						TTTGCTGCACGGCGATAATCA	0.378												
MYH10	4628	broad.mit.edu	37	17	8411973	8411973	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:8411973C>T	uc002gll.2	-	24	3116	c.3020G>A	c.(3019-3021)CGC>CAC	p.R1007H	MYH10_uc002glm.2_Missense_Mutation_p.R1038H|MYH10_uc010cnx.2_Missense_Mutation_p.R1016H	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1007	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CTCAGCAATGCGATCTTCCAT	0.413												
GAS7	8522	broad.mit.edu	37	17	9873065	9873065	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:9873065C>T	uc002gmg.1	-	4	561	c.400G>A	c.(400-402)GCA>ACA	p.A134T	GAS7_uc010vvd.1_Missense_Mutation_p.A86T|GAS7_uc002gmi.2_Missense_Mutation_p.A70T|GAS7_uc002gmj.1_Missense_Mutation_p.A74T|GAS7_uc010coh.1_Missense_Mutation_p.A74T	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	134					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GTCCCTGATGCGTGGTATCCA	0.602			T	MLL	AML*							
MYH4	4622	broad.mit.edu	37	17	10348604	10348604	+	Missense_Mutation	SNP	C	C	T	rs144889690	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:10348604C>T	uc002gmn.2	-	36	5356	c.5245G>A	c.(5245-5247)GTC>ATC	p.V1749I	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1749	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GCTTCCTGGACGATGTCCTCC	0.468												
MYH4	4622	broad.mit.edu	37	17	10355524	10355524	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:10355524C>T	uc002gmn.2	-	27	3583	c.3472G>A	c.(3472-3474)GGT>AGT	p.G1158S	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1158	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GTGGCCCCACCGGCTTCTTCC	0.612												
MYH1	4619	broad.mit.edu	37	17	10404768	10404768	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:10404768G>A	uc002gmo.2	-	27	3491	c.3397C>T	c.(3397-3399)CGG>TGG	p.R1133W	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1133	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GCTTTGGCCCGGGAGGCCCGC	0.572												
FLCN	201163	broad.mit.edu	37	17	17129580	17129580	+	Silent	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:17129580G>T	uc002gra.3	-	5	810	c.306C>A	c.(304-306)ACC>ACA	p.T102T	PLD6_uc010cpn.2_Intron|FLCN_uc002grb.3_Silent_p.T102T|FLCN_uc002grc.2_Silent_p.T102T	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	102					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						ATTTAATGGAGGTCTCTTTAT	0.557									Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer			
MED9	55090	broad.mit.edu	37	17	17394785	17394785	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:17394785C>T	uc002grh.1	+	2	473	c.417C>T	c.(415-417)TGC>TGT	p.C139C		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	139	Potential.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding				0						AGAGCCTCTGCATGTTCGAAA	0.562												
RAI1	10743	broad.mit.edu	37	17	17699712	17699712	+	Silent	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:17699712C>A	uc002grm.2	+	3	3919	c.3450C>A	c.(3448-3450)ACC>ACA	p.T1150T	RAI1_uc002grn.1_Silent_p.T1150T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1150						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GGTCACGCACCAAAACCCAGG	0.637												
RAI1	10743	broad.mit.edu	37	17	17700691	17700691	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:17700691C>T	uc002grm.2	+	3	4898	c.4429C>T	c.(4429-4431)CCC>TCC	p.P1477S	RAI1_uc002grn.1_Missense_Mutation_p.P1477S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1477						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCTCCTGACTCCCCGAGACAG	0.657												
MYO15A	51168	broad.mit.edu	37	17	18070920	18070920	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:18070920T>C	uc010vxh.1	+	61	10303	c.9965T>C	c.(9964-9966)CTG>CCG	p.L3322P	MYO15A_uc010vxi.1_Missense_Mutation_p.L586P|MYO15A_uc010vxk.1_Missense_Mutation_p.L15P|MYO15A_uc010vxl.1_Missense_Mutation_p.L311P|MYO15A_uc002gsl.2_Missense_Mutation_p.L329P|MYO15A_uc010vxm.1_Intron|MYO15A_uc010cpv.2_RNA	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3322	Tail.|FERM.				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)					CCTGACTACCTGAAGGGACTC	0.662												
SPAG5	10615	broad.mit.edu	37	17	26906803	26906803	+	Silent	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:26906803G>T	uc002hbq.2	-	17	2942	c.2850C>A	c.(2848-2850)ACC>ACA	p.T950T	ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	950					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					ATGCTACTCGGGTGAAAGCAC	0.507												
PIPOX	51268	broad.mit.edu	37	17	27380010	27380010	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:27380010G>A	uc002hdr.1	+	3	662	c.336G>A	c.(334-336)AGG>AGA	p.R112R		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	112					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	ATCTGTCGAGGCAGAGGGTAG	0.463												
MYO18A	399687	broad.mit.edu	37	17	27419968	27419968	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:27419968G>A	uc002hdt.1	-	33	5136	c.4978C>T	c.(4978-4980)CGC>TGC	p.R1660C	MYO18A_uc010wbc.1_Missense_Mutation_p.R1193C|MYO18A_uc002hds.2_Missense_Mutation_p.R1202C|MYO18A_uc010csa.1_Missense_Mutation_p.R1623C|MYO18A_uc002hdu.1_Missense_Mutation_p.R1660C	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1660	Potential.				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)			GCCTTGGTGCGCTTCAGGTCC	0.612												
EFCAB5	374786	broad.mit.edu	37	17	28417521	28417521	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:28417521C>T	uc002het.2	+	20	3958	c.3766C>T	c.(3766-3768)CGT>TGT	p.R1256C	EFCAB5_uc010cse.2_Missense_Mutation_p.R1011C|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1256							calcium ion binding			ovary(1)|skin(1)	2						AGTTCCACTTCGTGAGAGAAC	0.393												
SLC6A4	6532	broad.mit.edu	37	17	28548905	28548905	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:28548905G>A	uc002hey.3	-	3	616	c.72C>T	c.(70-72)AAC>AAT	p.N24N		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	24	Cytoplasmic (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GTAGAACTCCGTTTTCCTGAC	0.507												
UNC45B	146862	broad.mit.edu	37	17	33482316	33482316	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:33482316C>T	uc002hja.2	+	7	738	c.641C>T	c.(640-642)GCC>GTC	p.A214V	UNC45B_uc002hjb.2_Missense_Mutation_p.A214V|UNC45B_uc002hjc.2_Missense_Mutation_p.A214V|UNC45B_uc010cto.2_Missense_Mutation_p.A214V	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	214	ARM 2.				cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				GGGTTCTAGGCCACAGTGATT	0.562												
MLLT6	4302	broad.mit.edu	37	17	36873726	36873726	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:36873726G>A	uc002hqi.3	+	11	1706	c.1693G>A	c.(1693-1695)GGG>AGG	p.G565R	MLLT6_uc002hqj.2_5'UTR|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	565					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CCACAGTGGCGGGATGCTGCG	0.657			T	MLL	AL							
CDK12	51755	broad.mit.edu	37	17	37676314	37676314	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:37676314C>T	uc010cvv.2	+	11	3655	c.3069C>T	c.(3067-3069)GTC>GTT	p.V1023V	CDK12_uc010wef.1_Silent_p.V1022V|CDK12_uc002hrw.3_Silent_p.V1023V	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1023					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						TTAAAGATGTCGAACTCAGCA	0.468										TCGA Ovarian(9;0.13)		
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:37881332G>A	uc002hso.2	+	21	2762	c.2524G>A	c.(2524-2526)GTA>ATA	p.V842I	ERBB2_uc002hsm.2_Missense_Mutation_p.V812I|ERBB2_uc010cwa.2_Missense_Mutation_p.V827I|ERBB2_uc002hsp.2_Missense_Mutation_p.V645I|ERBB2_uc010cwb.2_Missense_Mutation_p.V842I|ERBB2_uc010wek.1_Missense_Mutation_p.V566I	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	842	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V842I(2)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)		
GSDMB	55876	broad.mit.edu	37	17	38066178	38066178	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:38066178C>T	uc010cwj.2	-	3	413	c.408_splice	c.e3-1	p.R136_splice	GSDMB_uc010cwi.2_5'Flank|GSDMB_uc010cwk.2_Splice_Site|GSDMB_uc010cwl.2_Splice_Site|GSDMB_uc010cwm.2_Intron|GSDMB_uc002htg.2_Splice_Site_p.R136_splice|GSDMB_uc002hth.2_Splice_Site_p.R136_splice|GSDMB_uc010wem.1_Splice_Site_p.R136_splice	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN	gasdermin B isoform 1							cytoplasm				breast(1)|pancreas(1)	2						CTTCAGCTTCCTGGAGAGAGT	0.468												
MED24	9862	broad.mit.edu	37	17	38185125	38185125	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:38185125C>T	uc002htt.2	-	14	1676	c.1363G>A	c.(1363-1365)GCC>ACC	p.A455T	MED24_uc010wes.1_Missense_Mutation_p.A315T|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.A480T|MED24_uc002htu.2_Missense_Mutation_p.A442T|MED24_uc010cwn.2_Missense_Mutation_p.A442T|MED24_uc010weu.1_Missense_Mutation_p.A365T|MED24_uc010wev.1_Missense_Mutation_p.A405T|MED24_uc010wew.1_Missense_Mutation_p.A396T|MED24_uc010wex.1_Missense_Mutation_p.A160T	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	455					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					GTGGCGGCGGCGGCAGCCAGC	0.632												
KRT28	162605	broad.mit.edu	37	17	38953394	38953394	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:38953394G>A	uc002hvh.1	-	4	896	c.830C>T	c.(829-831)GCG>GTG	p.A277V		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	277	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				CCAGGCCTCCGCGTCCTTGCG	0.632												
KLHL11	55175	broad.mit.edu	37	17	40010212	40010212	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:40010212G>A	uc002hyf.1	-	2	1913	c.1907C>T	c.(1906-1908)GCG>GTG	p.A636V		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	kelch-like 11 precursor	636	Kelch 5.					extracellular region					0		Breast(137;0.00156)				CTTCCTCTCCGCACAATATCG	0.458												
COASY	80347	broad.mit.edu	37	17	40716142	40716142	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:40716142C>T	uc002hzz.2	+	3	1021	c.864C>T	c.(862-864)AGC>AGT	p.S288S	COASY_uc010cyj.2_Silent_p.S317S|COASY_uc002iab.2_5'UTR|COASY_uc002iad.2_Silent_p.S288S|COASY_uc002iac.2_Silent_p.S288S|COASY_uc002iae.2_5'UTR|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	NM_001042529	NP_001035994	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	288	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGGTGGTCAGCGAGGAGACCT	0.617												
AOC2	314	broad.mit.edu	37	17	41001256	41001256	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:41001256G>A	uc002ibu.2	+	2	1777	c.1742G>A	c.(1741-1743)CGC>CAC	p.R581H	AOC2_uc002ibt.2_Missense_Mutation_p.R581H|AOC3_uc002ibv.2_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	581					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCCCTACCCCGCTACCTCTAC	0.617												
ASB16	92591	broad.mit.edu	37	17	42254992	42254992	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:42254992G>A	uc002ifl.1	+	4	1162	c.1078G>A	c.(1078-1080)GCC>ACC	p.A360T	ASB16_uc002ifm.1_RNA|C17orf65_uc002ifn.2_5'UTR	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box-containing protein	360					intracellular signal transduction		protein binding			kidney(2)	2		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GAAACACTGCGCCAACTTCCC	0.597												
GPATCH8	23131	broad.mit.edu	37	17	42474962	42474962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:42474962G>A	uc002igw.1	-	8	4547	c.4483C>T	c.(4483-4485)CAA>TAA	p.Q1495*	GPATCH8_uc002igv.1_Nonsense_Mutation_p.Q1417*|GPATCH8_uc010wiz.1_Nonsense_Mutation_p.Q1417*	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1495						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)		GGGGGATGTTGCAGGTCCTGA	0.592												
GJC1	10052	broad.mit.edu	37	17	42882358	42882358	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:42882358A>G	uc002ihj.2	-	2	1339	c.828T>C	c.(826-828)AAT>AAC	p.N276N	GJC1_uc002ihk.2_Silent_p.N276N|GJC1_uc002ihl.2_Silent_p.N276N|GJC1_uc010czx.2_Silent_p.N276N|GJC1_uc010czy.1_Silent_p.N137N	NM_005497	NP_005488	P36383	CXG1_HUMAN	connexin 45	276	Cytoplasmic (Potential).				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane					0		Prostate(33;0.0959)				TGAAAGGATAATTATAAGCAC	0.438												
NMT1	4836	broad.mit.edu	37	17	43180414	43180414	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:43180414G>A	uc002ihz.2	+	9	1107	c.1089G>A	c.(1087-1089)ACG>ACA	p.T363T	NMT1_uc002iia.2_RNA|NMT1_uc010dad.1_Silent_p.T23T	NM_021079	NP_066565	P30419	NMT1_HUMAN	N-myristoyltransferase 1	363					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity				0		Prostate(33;0.155)				TTCACCTTACGCCCGTCATGA	0.547												
FMNL1	752	broad.mit.edu	37	17	43320666	43320666	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:43320666G>A	uc002iin.2	+	17	2392	c.2192G>A	c.(2191-2193)CGC>CAC	p.R731H	FMNL1_uc002iiq.2_Missense_Mutation_p.R309H|FMNL1_uc010dag.2_RNA	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	731	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GGGGCCGAGCGCATCTGCCAA	0.622												
MAP3K14	9020	broad.mit.edu	37	17	43345072	43345072	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:43345072G>A	uc002iiw.1	-	13	2136	c.2027C>T	c.(2026-2028)CCG>CTG	p.P676L	LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Missense_Mutation_p.P206L|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.P260L	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	676					cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						TTGATTTGGCGGTGGATGTCT	0.567												
ITGB3	3690	broad.mit.edu	37	17	45376795	45376795	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:45376795C>T	uc002ilj.2	+	11	1832	c.1812C>T	c.(1810-1812)CGC>CGT	p.R604R	ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	604	IV.|Extracellular (Potential).|Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	GCAGCGGCCGCGGCAAGTGTG	0.602												
HOXB5	3215	broad.mit.edu	37	17	46670890	46670890	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:46670890A>G	uc002inr.2	-	1	214	c.155T>C	c.(154-156)ATG>ACG	p.M52T		NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	52						nucleus	sequence-specific DNA binding				0						GCTGAGGTCCATCCCATTGTA	0.632												
NGFR	4804	broad.mit.edu	37	17	47583668	47583668	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:47583668G>A	uc002ioz.3	+	3	341	c.216G>A	c.(214-216)ACG>ACA	p.T72T		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	72	Extracellular (Potential).|TNFR-Cys 2.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CAGGCGTGACGTTCTCCGACG	0.677												
SLC35B1	10237	broad.mit.edu	37	17	47780357	47780357	+	Missense_Mutation	SNP	G	G	A	rs142991261		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:47780357G>A	uc002iph.1	-	8	866	c.779C>T	c.(778-780)ACG>ATG	p.T260M	SLC35B1_uc002ipi.1_Missense_Mutation_p.T193M|SLC35B1_uc002ipj.1_Missense_Mutation_p.T136M	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	260	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						ATACACAACCGTCATAAAGAT	0.463												
XYLT2	64132	broad.mit.edu	37	17	48435793	48435793	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:48435793C>T	uc002iqo.2	+	10	2276	c.2167C>T	c.(2167-2169)CGG>TGG	p.R723W	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	723	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					CCGGCCCCTGCGGCCAGGGCC	0.582												
WFIKKN2	124857	broad.mit.edu	37	17	48917623	48917623	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:48917623C>T	uc002isv.3	+	2	1668	c.974C>T	c.(973-975)GCG>GTG	p.A325V	WFIKKN2_uc010dbu.2_Missense_Mutation_p.A232V	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	325						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCTTTCCCGGCGGCCGAGTGC	0.647												
DHX40	79665	broad.mit.edu	37	17	57679970	57679970	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:57679970G>C	uc002ixn.1	+	15	2041	c.1894G>C	c.(1894-1896)GCT>CCT	p.A632P	DHX40_uc010woe.1_Missense_Mutation_p.A555P|DHX40_uc010wof.1_Missense_Mutation_p.A147P	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	632							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CAAAAATGTAGCTCGAAGGTA	0.318												
PPM1D	8493	broad.mit.edu	37	17	58740889	58740889	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:58740889C>T	uc002iyt.1	+	6	2016	c.1794C>T	c.(1792-1794)CAC>CAT	p.H598H	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	598					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TTCATCAACACAGGAAAACTG	0.418												
KCNH6	81033	broad.mit.edu	37	17	61611343	61611343	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:61611343G>A	uc002jay.2	+	5	852	c.772G>A	c.(772-774)GTG>ATG	p.V258M	KCNH6_uc002jax.1_Missense_Mutation_p.V258M|KCNH6_uc010wpl.1_Missense_Mutation_p.V135M|KCNH6_uc010wpm.1_Missense_Mutation_p.V258M|KCNH6_uc002jaz.1_Missense_Mutation_p.V258M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	258	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	CTTCAAGGCCGTGTGGGACTG	0.647												
KIF19	124602	broad.mit.edu	37	17	72340420	72340420	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:72340420G>A	uc002jkm.3	+	6	653	c.515G>A	c.(514-516)CGG>CAG	p.R172Q	KIF19_uc002jkj.2_Missense_Mutation_p.R172Q|KIF19_uc002jkk.2_Intron|KIF19_uc002jkl.2_Intron	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	172	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						CTGGAGCTGCGGGAGGACTCT	0.617												
ARMC7	79637	broad.mit.edu	37	17	73125123	73125123	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:73125123G>A	uc002jmw.1	+	3	889	c.587G>A	c.(586-588)CGG>CAG	p.R196Q	ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_RNA	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	196							binding			pancreas(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GTGGCCCCACGGCAGCGCTGA	0.682												
RECQL5	9400	broad.mit.edu	37	17	73627684	73627684	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:73627684C>T	uc010dgl.2	-	9	1450	c.1294G>A	c.(1294-1296)GAC>AAC	p.D432N	RECQL5_uc010dgk.2_Missense_Mutation_p.D405N|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	432					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)			TGGCAGTGGTCGCAGCCTTTG	0.701								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
SRP68	6730	broad.mit.edu	37	17	74036996	74036996	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:74036996C>T	uc002jqk.1	-	14	1623	c.1588G>A	c.(1588-1590)GCA>ACA	p.A530T	SRP68_uc010wsu.1_Missense_Mutation_p.A429T|SRP68_uc002jql.1_Missense_Mutation_p.A492T|SRP68_uc002jqj.1_Missense_Mutation_p.A191T	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	530					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						AGGATGGCTGCGGCCTGCAGG	0.562												
EXOC7	23265	broad.mit.edu	37	17	74094083	74094083	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:74094083C>T	uc002jqs.2	-	5	529	c.434G>A	c.(433-435)CGC>CAC	p.R145H	EXOC7_uc010dgv.1_Missense_Mutation_p.R92H|EXOC7_uc002jqq.2_Missense_Mutation_p.R145H|EXOC7_uc010wsw.1_Missense_Mutation_p.R145H|EXOC7_uc010wsx.1_Missense_Mutation_p.R145H|EXOC7_uc002jqr.2_Missense_Mutation_p.R145H|EXOC7_uc010wsv.1_Missense_Mutation_p.R104H|EXOC7_uc002jqu.2_Missense_Mutation_p.R145H	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	145					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCCTTCCCGCGCTCAAAGAG	0.582												
RNF157	114804	broad.mit.edu	37	17	74141371	74141371	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:74141371C>A	uc002jqz.2	-	19	2054	c.1985G>T	c.(1984-1986)AGC>ATC	p.S662I	RNF157_uc002jra.2_Missense_Mutation_p.S640I|uc002jqy.1_Intron	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	662							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCCAGGCTGCTGGATGACAA	0.617												
UBE2O	63893	broad.mit.edu	37	17	74392410	74392410	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:74392410T>C	uc002jrm.3	-	14	2673	c.2608A>G	c.(2608-2610)AAT>GAT	p.N870D	UBE2O_uc002jrn.3_Missense_Mutation_p.N870D|UBE2O_uc002jrl.3_Missense_Mutation_p.N474D	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	870	Potential.						ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						ATGGCCACATTGTCCAGGGTC	0.562												
AANAT	15	broad.mit.edu	37	17	74465953	74465953	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:74465953C>T	uc002jro.2	+	4	759	c.525C>T	c.(523-525)GCC>GCT	p.A175A	AANAT_uc010wte.1_RNA	NM_001088	NP_001079	Q16613	SNAT_HUMAN	arylalkylamine N-acetyltransferase	175	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity				0						GCTTCCACGCCGTGGGCCCCT	0.692												
TNRC6C	57690	broad.mit.edu	37	17	76046871	76046871	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:76046871G>T	uc002jud.2	+	4	2328	c.1728G>T	c.(1726-1728)AAG>AAT	p.K576N	TNRC6C_uc002juf.2_Missense_Mutation_p.K576N|TNRC6C_uc002jue.2_Missense_Mutation_p.K576N	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	576	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCCTCCAAAGCCCAAATCCC	0.562												
TMC6	11322	broad.mit.edu	37	17	76117688	76117688	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:76117688G>A	uc002juj.1	-	10	1458	c.1332C>T	c.(1330-1332)ACC>ACT	p.T444T	TMC6_uc002jui.1_Silent_p.T83T|TMC6_uc010dhf.1_Silent_p.T277T|TMC6_uc002juk.2_Silent_p.T444T|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.T444T|TMC6_uc002jum.3_Silent_p.T235T|TMC6_uc002jun.3_Silent_p.T444T|TMC6_uc002juo.2_Silent_p.T217T	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	444	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCCCAGCGCGGTCCCCAGAC	0.701									Epidermodysplasia_Verruciformis_Familial_Clustering_of			
DNAH17	8632	broad.mit.edu	37	17	76456073	76456073	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:76456073G>A	uc010dhp.1	-	5	668	c.446C>T	c.(445-447)ACA>ATA	p.T149I	DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTCAGCTCTGTCAGGTTGTT	0.607												
RPTOR	57521	broad.mit.edu	37	17	78796081	78796081	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:78796081C>T	uc002jyt.1	+	8	1776	c.971C>T	c.(970-972)GCG>GTG	p.A324V	RPTOR_uc002jys.2_Missense_Mutation_p.A324V|RPTOR_uc010wuf.1_Missense_Mutation_p.A139V|RPTOR_uc010wug.1_Missense_Mutation_p.A324V	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	324					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GACACCATCGCGTGGAACGTG	0.647												
TMEM105	284186	broad.mit.edu	37	17	79287760	79287760	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:79287760G>A	uc002kad.1	-	3	631	c.81C>T	c.(79-81)ATC>ATT	p.I27I		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	transmembrane protein 105	27	Helical; (Potential).					integral to membrane				ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			TCAGCTGCCCGATCACATTTC	0.607												
NOTUM	147111	broad.mit.edu	37	17	79913389	79913389	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:79913389G>A	uc010wvg.1	-	9	1292	c.1020C>T	c.(1018-1020)GAC>GAT	p.D340D		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	340		Charge relay system (By similarity).				extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCTGTGCCTCGTCAAACAGCC	0.701												
PTPRM	5797	broad.mit.edu	37	18	7949201	7949201	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:7949201C>T	uc002knn.3	+	6	1189	c.686C>T	c.(685-687)CCT>CTT	p.P229L	PTPRM_uc010dkv.2_Missense_Mutation_p.P229L|PTPRM_uc010wzl.1_Missense_Mutation_p.P16L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	229	Ig-like C2-type.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CGAGATGCTCCTCTGAAGGAA	0.463												
KIAA0802	23255	broad.mit.edu	37	18	8819028	8819028	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:8819028G>A	uc002knr.2	+	13	3069	c.2927G>A	c.(2926-2928)CGC>CAC	p.R976H	KIAA0802_uc002knq.2_Missense_Mutation_p.R935H|KIAA0802_uc002kns.2_Intron	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1286											0						GGCAACGTTCGCCCCTTTCCC	0.532												
KIAA0802	23255	broad.mit.edu	37	18	8825115	8825115	+	Missense_Mutation	SNP	G	G	A	rs115256052	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:8825115G>A	uc002knr.2	+	15	3749	c.3607G>A	c.(3607-3609)GAC>AAC	p.D1203N	KIAA0802_uc002knq.2_Missense_Mutation_p.D1162N|KIAA0802_uc002kns.2_Missense_Mutation_p.D543N	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1513											0						GCGCAGGGTCGACAGCATCAC	0.672												
PSMG2	56984	broad.mit.edu	37	18	12718569	12718569	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:12718569C>T	uc002krk.2	+	4	385	c.342C>T	c.(340-342)GGC>GGT	p.G114G	PSMG2_uc002krg.2_Silent_p.G83G|PSMG2_uc002krj.1_Silent_p.G114G	NM_020232	NP_064617	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly	114					proteasome assembly	nucleus	protein binding				0						AAAGCAGTGGCTGTGCCAGAG	0.378												
MC5R	4161	broad.mit.edu	37	18	13826229	13826229	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:13826229G>A	uc010xaf.1	+	1	465	c.465G>A	c.(463-465)ACG>ACA	p.T155T		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	155	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						ACATCATGACGGCGAGGCGCT	0.572												
LAMA3	3909	broad.mit.edu	37	18	21479349	21479349	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:21479349G>T	uc002kuq.2	+	47	6020	c.5934G>T	c.(5932-5934)AGG>AGT	p.R1978S	LAMA3_uc002kur.2_Intron|LAMA3_uc002kus.3_Missense_Mutation_p.R369S|LAMA3_uc002kut.3_Intron	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1978	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCATGATGAGGGAACTGCGGA	0.493												
ZNF521	25925	broad.mit.edu	37	18	22806909	22806909	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:22806909G>T	uc002kvk.2	-	4	1220	c.973C>A	c.(973-975)CTG>ATG	p.L325M	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L325M|ZNF521_uc002kvl.2_Missense_Mutation_p.L105M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	325	C2H2-type 8.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGCTGTACAGTTCCTCAACT	0.537			T	PAX5	ALL							
DSC3	1825	broad.mit.edu	37	18	28602425	28602425	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:28602425C>T	uc002kwj.3	-	7	974	c.819G>A	c.(817-819)CCG>CCA	p.P273P	DSC3_uc002kwi.3_Silent_p.P273P	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	273	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCATTGTGTCCGGTTCATCTC	0.438												
B4GALT6	9331	broad.mit.edu	37	18	29218625	29218625	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:29218625C>T	uc002kwz.3	-	5	867	c.570G>A	c.(568-570)GCG>GCA	p.A190A	B4GALT6_uc010dma.2_Silent_p.A151A|B4GALT6_uc010dmb.2_Intron	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	190	Lumenal (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)			TGACATAAAACGCAAATTCCA	0.363												
FHOD3	80206	broad.mit.edu	37	18	34320643	34320643	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:34320643G>A	uc002kzt.1	+	17	3122	c.3025G>A	c.(3025-3027)GAT>AAT	p.D1009N	FHOD3_uc002kzs.1_Missense_Mutation_p.D1026N|FHOD3_uc010dmz.1_Missense_Mutation_p.D741N|FHOD3_uc010dnb.1_Missense_Mutation_p.D5N	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1009	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GATTCCCACCGATGAGGAGAA	0.473												
SETBP1	26040	broad.mit.edu	37	18	42532361	42532361	+	Missense_Mutation	SNP	G	G	A	rs140544874		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:42532361G>A	uc010dni.2	+	4	3352	c.3056G>A	c.(3055-3057)CGT>CAT	p.R1019H		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1019	A.T hook 2.					nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGAAGAAGCGTGGTAGGCCT	0.438									Schinzel-Giedion_syndrome			
SLC14A2	8170	broad.mit.edu	37	18	43205722	43205722	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:43205722C>T	uc010dnj.2	+	4	546	c.225C>T	c.(223-225)GAC>GAT	p.D75D	SLC14A2_uc002lbb.2_Silent_p.D75D|SLC14A2_uc002lbe.2_Silent_p.D75D	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	75						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						AAAGGAAAGACGACGGGGTGG	0.517												
KIAA1632	57724	broad.mit.edu	37	18	43435571	43435571	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:43435571G>A	uc002lbm.2	-	43	7624	c.7524C>T	c.(7522-7524)GGC>GGT	p.G2508G		NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2508					autophagy						0						GTAATTCAGAGCCAGGCCTCA	0.512												
CNDP1	84735	broad.mit.edu	37	18	72228119	72228119	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:72228119C>A	uc002llq.2	+	4	543	c.332C>A	c.(331-333)CCT>CAT	p.P111H	uc002llr.2_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	111					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)		CTTCCAATACCTCCCATCATC	0.527												
TSHZ1	10194	broad.mit.edu	37	18	72998924	72998924	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:72998924A>C	uc002lly.2	+	2	1990	c.1427A>C	c.(1426-1428)GAG>GCG	p.E476A		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	521						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GAGGAGAGTGAGGACAGCTTG	0.592												
ZNF236	7776	broad.mit.edu	37	18	74672689	74672689	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:74672689C>T	uc002lmi.2	+	30	5489	c.5291C>T	c.(5290-5292)GCG>GTG	p.A1764V	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1764	C2H2-type 29.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAGAAGAGTGCGCTGCAGGTG	0.517												
SALL3	27164	broad.mit.edu	37	18	76755399	76755399	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:76755399C>T	uc002lmt.2	+	2	3408	c.3408C>T	c.(3406-3408)ACC>ACT	p.T1136T	SALL3_uc010dra.2_Silent_p.T671T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1136					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)		GCACGCACACCGGCGAGAAGC	0.687												
NFATC1	4772	broad.mit.edu	37	18	77227522	77227522	+	Missense_Mutation	SNP	G	G	A	rs143006140		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:77227522G>A	uc010xfg.1	+	8	2485	c.2032G>A	c.(2032-2034)GTC>ATC	p.V678I	NFATC1_uc002lnc.1_Missense_Mutation_p.V678I|NFATC1_uc010xff.1_3'UTR|NFATC1_uc002lnd.2_Missense_Mutation_p.V678I|NFATC1_uc002lne.2_Missense_Mutation_p.V206I|NFATC1_uc010xfh.1_Missense_Mutation_p.V678I|NFATC1_uc010xfi.1_Missense_Mutation_p.V665I|NFATC1_uc010xfj.1_Missense_Mutation_p.V206I|NFATC1_uc002lnf.2_Missense_Mutation_p.V665I|NFATC1_uc002lng.2_Missense_Mutation_p.V665I|NFATC1_uc010xfk.1_Missense_Mutation_p.V665I	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	678					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CAGTTTCTACGTCTGCAACGG	0.537												
KCNG2	26251	broad.mit.edu	37	18	77623865	77623865	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:77623865C>T	uc010xfl.1	+	1	198	c.198C>T	c.(196-198)CGC>CGT	p.R66R		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	66	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ACGTGAGCCGCGACGAGTTCT	0.741												
PRSSL1	400668	broad.mit.edu	37	19	694872	694872	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:694872C>T	uc002lpl.1	-	2	209	c.178G>A	c.(178-180)GGA>AGA	p.G60R	PRSSL1_uc010xfs.1_Missense_Mutation_p.G59R	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine-like 1 precursor	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_epithelial(18;2.19e-21)|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)		AGGAAGCCTCCGCAGTGATGT	0.677												
LPPR3	79948	broad.mit.edu	37	19	813534	813534	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:813534G>A	uc002lpx.1	-	8	1257	c.1193C>T	c.(1192-1194)CCG>CTG	p.P398L	LPPR3_uc010dru.1_Missense_Mutation_p.P310L|LPPR3_uc002lpw.1_Missense_Mutation_p.P426L|LPPR3_uc002lpy.1_Missense_Mutation_p.P179L|hsa-mir-3187|MI0014231_5'Flank	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	398						integral to membrane	phosphatidate phosphatase activity				0						GGCGTCCAGCGGCACGTGGAT	0.711												
HMHA1	23526	broad.mit.edu	37	19	1081929	1081929	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1081929T>C	uc002lqz.1	+	19	2717	c.2486T>C	c.(2485-2487)ATC>ACC	p.I829T	HMHA1_uc010xgd.1_Missense_Mutation_p.I845T|HMHA1_uc010xge.1_Missense_Mutation_p.I697T|HMHA1_uc002lra.1_Missense_Mutation_p.I669T|HMHA1_uc002lrb.1_Missense_Mutation_p.I712T|HMHA1_uc002lrc.1_Missense_Mutation_p.I464T|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	829	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(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)		CCCCACGACATCAGCAACGTC	0.527												
MIDN	90007	broad.mit.edu	37	19	1257161	1257161	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1257161G>A	uc002lrp.2	+	8	1812	c.1297G>A	c.(1297-1299)GGG>AGG	p.G433R		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	433						nucleolus					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)		CAGTAGCAGCGGGGGCGGCGG	0.682												
NDUFS7	374291	broad.mit.edu	37	19	1390983	1390983	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1390983G>A	uc002lse.3	+	5	385	c.342G>A	c.(340-342)CCG>CCA	p.P114P	NDUFS7_uc002lsf.2_Silent_p.P178P|NDUFS7_uc002lsh.2_Silent_p.P178P|NDUFS7_uc002lsg.2_Silent_p.P121P	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	114					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)	GCGCCAGCCCGCGCCAGTCCG	0.682												
MEX3D	399664	broad.mit.edu	37	19	1556759	1556759	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1556759C>T	uc010dsn.2	-	2	759	c.759G>A	c.(757-759)ACG>ACA	p.T253T		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	253					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			lung(1)	1		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)		CCTTGCTGCGCGTGGCGCGGA	0.706												
REXO1	57455	broad.mit.edu	37	19	1826907	1826907	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1826907C>T	uc002lua.3	-	2	1976	c.1881G>A	c.(1879-1881)AAG>AAA	p.K627K	REXO1_uc010dsr.1_Silent_p.K581K	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	627						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|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)		TGTCCTCCGTCTTGACGCTGG	0.672												
KLF16	83855	broad.mit.edu	37	19	1854671	1854671	+	Silent	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1854671C>A	uc002luc.2	-	2	614	c.546G>T	c.(544-546)ACG>ACT	p.T182T	KLF16_uc010xgt.1_RNA	NM_031918	NP_114124	Q9BXK1	KLF16_HUMAN	BTE-binding protein 4	182						nucleus	DNA binding|zinc ion binding				0		Ovarian(11;1.78e-06)|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)		GCTTCTCGCCCGTGTGCGTCC	0.692												
SF3A2	8175	broad.mit.edu	37	19	2246901	2246901	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:2246901C>T	uc002lvg.2	+	7	548	c.426C>T	c.(424-426)GCC>GCT	p.A142A	AMH_uc002lvh.2_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2	142					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding				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)		CTGAGATCGCCGAGGGCATCA	0.667												
JSRP1	126306	broad.mit.edu	37	19	2252349	2252349	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:2252349G>A	uc002lvi.1	-	6	1010	c.975C>T	c.(973-975)CGC>CGT	p.R325R	JSRP1_uc002lvj.1_Silent_p.R325R	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	325	Arg-rich.					sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGCCTGCGCGGAGCTTCT	0.731												
C19orf35	374872	broad.mit.edu	37	19	2280892	2280892	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:2280892G>A	uc002lvn.2	-	2	139	c.39C>T	c.(37-39)CCC>CCT	p.P13P	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	hypothetical protein LOC374872	13										pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGTTGTCGGGCTCGGGGG	0.607												
ZNF57	126295	broad.mit.edu	37	19	2916959	2916959	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:2916959G>T	uc002lwr.2	+	4	488	c.340G>T	c.(340-342)GGT>TGT	p.G114C	ZNF57_uc010xha.1_Missense_Mutation_p.G82C	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATAATGAAGGTAATCAATA	0.363												
NCLN	56926	broad.mit.edu	37	19	3207221	3207221	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:3207221C>A	uc002lxi.2	+	13	1679	c.1525C>A	c.(1525-1527)CAG>AAG	p.Q509K	NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Missense_Mutation_p.Q153K	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	509	Lumenal (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTACGACCAGCTGAAGCA	0.577												
PIAS4	51588	broad.mit.edu	37	19	4037447	4037447	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:4037447G>A	uc002lzg.2	+	10	1228	c.1218G>A	c.(1216-1218)CCG>CCA	p.P406P		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	406					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGTGCCCGATCCGCGCCG	0.701												
SH3GL1	6455	broad.mit.edu	37	19	4362734	4362734	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:4362734C>A	uc002maj.2	-	8	835	c.729_splice	c.e8-1	p.R243_splice	SH3GL1_uc002mak.2_Splice_Site_p.R179_splice|SH3GL1_uc010xig.1_Splice_Site_p.R195_splice	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1						central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TTCCCGCATCCTGTGAAGGGA	0.627			T	MLL	AL							
UBXN6	80700	broad.mit.edu	37	19	4446528	4446528	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:4446528C>T	uc002man.1	-	8	985	c.889G>A	c.(889-891)GCA>ACA	p.A297T	UBXN6_uc010dty.1_Missense_Mutation_p.A201T|UBXN6_uc002mam.1_Missense_Mutation_p.A244T	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	297						microtubule organizing center|nucleus	protein binding				0						ATCTCCTCTGCTGTGAGGTTG	0.697												
ARHGEF18	23370	broad.mit.edu	37	19	7534893	7534893	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:7534893A>G	uc002mgi.2	+	18	3580	c.3327A>G	c.(3325-3327)AGA>AGG	p.R1109R	ARHGEF18_uc010xjm.1_Silent_p.R951R|ARHGEF18_uc002mgh.2_Silent_p.R951R|ARHGEF18_uc002mgj.1_Silent_p.R746R	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	1109	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				TGCCCGGCAGACACAGTCCTG	0.667												
XAB2	56949	broad.mit.edu	37	19	7692180	7692180	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:7692180G>A	uc002mgx.2	-	4	497	c.471C>T	c.(469-471)CGC>CGT	p.R157R	uc010dvi.1_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	157	HAT 4.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GTGGGTGTGAGCGCAGGAAGC	0.637								Direct_reversal_of_damage|NER				
LRRC8E	80131	broad.mit.edu	37	19	7963908	7963908	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:7963908C>T	uc002mir.2	+	3	602	c.501C>T	c.(499-501)TCC>TCT	p.S167S		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	167						integral to membrane				lung(1)|pancreas(1)	2						GGGCCCTATCCGAGGTATCCG	0.622												
ADAMTS10	81794	broad.mit.edu	37	19	8666009	8666009	+	Missense_Mutation	SNP	G	G	A	rs147270233		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:8666009G>A	uc002mkj.1	-	6	887	c.613C>T	c.(613-615)CGG>TGG	p.R205W	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	205					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CACCATGGCCGCCCTTTCCAC	0.622												
MUC16	94025	broad.mit.edu	37	19	9049263	9049263	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:9049263A>T	uc002mkp.2	-	5	32572	c.32368T>A	c.(32368-32370)TCA>ACA	p.S10790T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10792	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						ACCAACCGTGATACAGCAGGC	0.488												
ICAM1	3383	broad.mit.edu	37	19	10395521	10395521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:10395521C>T	uc002mnq.2	+	6	1562	c.1243C>T	c.(1243-1245)CAG>TAG	p.Q415*	ICAM1_uc010xle.1_Nonsense_Mutation_p.Q193*|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	415	Extracellular (Potential).|Ig-like C2-type 5.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	AAATTCCCAGCAGACTCCAAT	0.567												
SMARCA4	6597	broad.mit.edu	37	19	11138594	11138594	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:11138594C>T	uc002mqf.3	+	24	3634	c.3350C>T	c.(3349-3351)GCG>GTG	p.A1117V	SMARCA4_uc010dxp.2_Missense_Mutation_p.A1117V|SMARCA4_uc010dxo.2_Missense_Mutation_p.A1117V|SMARCA4_uc002mqg.1_Missense_Mutation_p.A1117V|SMARCA4_uc010dxq.2_Missense_Mutation_p.A1117V|SMARCA4_uc010dxr.2_Missense_Mutation_p.A1117V|SMARCA4_uc002mqj.3_Missense_Mutation_p.A1117V|SMARCA4_uc010dxs.2_Missense_Mutation_p.A1117V|SMARCA4_uc010dxt.1_Missense_Mutation_p.A337V|SMARCA4_uc002mqh.3_Missense_Mutation_p.A240V|SMARCA4_uc002mqi.1_Missense_Mutation_p.A320V	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1117	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GATTACTTTGCGTATCGCGGC	0.478			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
SMARCA4	6597	broad.mit.edu	37	19	11143993	11143993	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:11143993C>T	uc002mqf.3	+	26	3858	c.3574C>T	c.(3574-3576)CGC>TGC	p.R1192C	SMARCA4_uc010dxp.2_Missense_Mutation_p.R1192C|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1192C|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1192C|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1192C|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1192C|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1192C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R412C|SMARCA4_uc002mqh.3_Missense_Mutation_p.R315C|SMARCA4_uc002mqi.1_Missense_Mutation_p.R395C	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGAGCCCACCGCATCGGGCA	0.607			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
LDLR	3949	broad.mit.edu	37	19	11223968	11223968	+	Missense_Mutation	SNP	C	C	A	rs146200173		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:11223968C>A	uc002mqk.3	+	9	1369	c.1201C>A	c.(1201-1203)CTC>ATC	p.L401I	LDLR_uc010xlk.1_Missense_Mutation_p.L401I|LDLR_uc010xll.1_Missense_Mutation_p.L360I|LDLR_uc010xlm.1_Missense_Mutation_p.L254I|LDLR_uc010xln.1_Missense_Mutation_p.L274I|LDLR_uc010xlo.1_Missense_Mutation_p.L233I	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	401	LDL-receptor class B 1.|Extracellular (Potential).		L -> H (in Pori).|L -> V (in FH).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CATCGCCTACCTCTTCTTCAC	0.632												
ACP5	54	broad.mit.edu	37	19	11686047	11686047	+	Silent	SNP	G	G	A	rs139096747		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:11686047G>A	uc002msg.3	-	5	902	c.756C>T	c.(754-756)GGC>GGT	p.G252G	uc002msf.2_Intron|ACP5_uc002msh.3_Silent_p.G252G|ACP5_uc002msi.3_Silent_p.G252G|ACP5_uc002msj.3_Silent_p.G252G	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	252					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						CGTAGCCCACGCCATTCTCAT	0.483												
ZNF136	7695	broad.mit.edu	37	19	12296983	12296983	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12296983A>T	uc002mti.2	+	3	285	c.185A>T	c.(184-186)AAT>ATT	p.N62I	ZNF136_uc010xmh.1_5'UTR	NM_003437	NP_003428	P52737	ZN136_HUMAN	zinc finger protein 136	62	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|pancreas(1)	2						CGAGGGAGAAATCTAAGGTAA	0.343												
RNASEH2A	10535	broad.mit.edu	37	19	12920927	12920927	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12920927C>T	uc002mvg.1	+	5	514	c.454C>T	c.(454-456)CGG>TGG	p.R152W	RNASEH2A_uc002mvf.1_Missense_Mutation_p.R70W	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	152				R -> Q (in Ref. 1; CAB09725).	DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3						ATACCAGGCGCGGCTGCAGCA	0.502												
CACNA1A	773	broad.mit.edu	37	19	13368180	13368180	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:13368180C>A	uc010dze.2	-	28	4813	c.4577G>T	c.(4576-4578)AGC>ATC	p.S1526I	CACNA1A_uc010xnd.1_Missense_Mutation_p.S231I|CACNA1A_uc002mwx.3_Missense_Mutation_p.S231I|CACNA1A_uc010dzc.2_Missense_Mutation_p.S1051I|CACNA1A_uc002mwy.3_Missense_Mutation_p.S1525I|CACNA1A_uc010xne.1_Missense_Mutation_p.S1054I|CACNA1A_uc002mwv.3_Missense_Mutation_p.S42I	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1526	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTTCTCCAGGCTGTATTCCTC	0.448												
CACNA1A	773	broad.mit.edu	37	19	13387910	13387910	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:13387910G>A	uc010dze.2	-	23	4094	c.3858C>T	c.(3856-3858)GGC>GGT	p.G1286G	CACNA1A_uc010xnd.1_5'Flank|CACNA1A_uc002mwx.3_5'Flank|CACNA1A_uc010dzc.2_Silent_p.G811G|CACNA1A_uc002mwy.3_Silent_p.G1285G|CACNA1A_uc010xne.1_Silent_p.G814G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1286	III.|Helical; Name=S2 of repeat III; (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGGTAAAGACGCCTGTAAAAA	0.398											OREG0025295	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CACNA1A	773	broad.mit.edu	37	19	13616860	13616860	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:13616860G>A	uc010dze.2	-	1	415	c.179C>T	c.(178-180)GCA>GTA	p.A60V	CACNA1A_uc002mwy.3_Missense_Mutation_p.A60V	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	60	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTTGTAGAGTGCCATGGTCCG	0.627												
CD97	976	broad.mit.edu	37	19	14516664	14516664	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:14516664G>A	uc002myl.2	+	14	1857	c.1734G>A	c.(1732-1734)TCG>TCA	p.S578S	CD97_uc002mym.2_Silent_p.S529S|CD97_uc002myn.2_Silent_p.S485S	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	578	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						TCCAGGGCTCGCGCACCACCA	0.642												
BRD4	23476	broad.mit.edu	37	19	15376438	15376438	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:15376438G>A	uc002nar.2	-	5	798	c.576C>T	c.(574-576)GGC>GGT	p.G192G	BRD4_uc002nas.2_Silent_p.G192G|BRD4_uc002nat.3_Silent_p.G192G|BRD4_uc002nau.3_Silent_p.G192G	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	192					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CCGTGGAAACGCCAGGTTTTG	0.562			T	NUT|C15orf55	lethal midline carcinoma of young people							
AKAP8	10270	broad.mit.edu	37	19	15483836	15483836	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:15483836G>A	uc002nav.2	-	5	748	c.687C>T	c.(685-687)TAC>TAT	p.Y229Y	AKAP8_uc010dzy.2_Translation_Start_Site|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Silent_p.Y43Y	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	229					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GTCCACCCACGTAGTTCAGCT	0.697												
CYP4F3	4051	broad.mit.edu	37	19	15760964	15760964	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:15760964G>T	uc002nbj.2	+	7	939	c.889G>T	c.(889-891)GAC>TAC	p.D297Y	CYP4F3_uc010xok.1_Missense_Mutation_p.D297Y|CYP4F3_uc010xol.1_Missense_Mutation_p.D297Y|CYP4F3_uc010xom.1_Missense_Mutation_p.D148Y|CYP4F3_uc002nbk.2_Missense_Mutation_p.D297Y|CYP4F3_uc010xon.1_5'UTR	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	297					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						CAAGACTTTGGACTTCATTGA	0.512												
CYP4F2	8529	broad.mit.edu	37	19	16003198	16003198	+	Missense_Mutation	SNP	C	C	T	rs140630977		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:16003198C>T	uc002nbs.1	-	5	496	c.446G>A	c.(445-447)CGG>CAG	p.R149Q	CYP4F2_uc010xot.1_5'UTR|CYP4F2_uc010xou.1_5'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	149					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.R149Q(1)		ovary(1)|skin(1)	2						CGTCAGCATCCGACGGTGGCG	0.567												
OR10H4	126541	broad.mit.edu	37	19	16060236	16060236	+	Missense_Mutation	SNP	G	G	A	rs144850333	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:16060236G>A	uc010xov.1	+	1	419	c.419G>A	c.(418-420)CGT>CAT	p.R140H		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	140	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						ATGAGCCCCCGTGACTGTGCC	0.532												
F2RL3	9002	broad.mit.edu	37	19	17000816	17000816	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:17000816C>T	uc002nfa.2	+	2	717	c.542C>T	c.(541-543)CCG>CTG	p.P181L		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	181	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity				0						CTGGTGCACCCGCTGCGGGCC	0.716												
CPAMD8	27151	broad.mit.edu	37	19	17057980	17057980	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:17057980G>A	uc002nfb.2	-	21	2739	c.2707C>T	c.(2707-2709)CGC>TGC	p.R903C		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	856						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GTCACATGGCGTTTGCCAGGA	0.587												
MYO9B	4650	broad.mit.edu	37	19	17313014	17313014	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:17313014C>T	uc010eak.2	+	28	4890	c.4738C>T	c.(4738-4740)CGT>TGT	p.R1580C	MYO9B_uc002nfi.2_Missense_Mutation_p.R1580C|MYO9B_uc002nfj.1_Missense_Mutation_p.R1580C|MYO9B_uc002nfl.1_Missense_Mutation_p.R129C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1580	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						GGCCACTGAGCGTGGCCAGAA	0.552												
ANO8	57719	broad.mit.edu	37	19	17438570	17438570	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:17438570G>A	uc002ngf.2	-	14	2505	c.2346C>T	c.(2344-2346)AGC>AGT	p.S782S	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	782	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						TGAAGGCGTCGCTGCGGATCT	0.647												
MAST3	23031	broad.mit.edu	37	19	18234816	18234816	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:18234816C>T	uc002nhz.3	+	8	614	c.614C>T	c.(613-615)GCG>GTG	p.A205V		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	205							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GCCCGGCTGGCGCTGGCTGAT	0.682												
MAST3	23031	broad.mit.edu	37	19	18245637	18245637	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:18245637C>T	uc002nhz.3	+	16	1628	c.1628C>T	c.(1627-1629)ACG>ATG	p.T543M		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	543	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GTGTGTGGGACGCCGGAGTAC	0.662												
KLHL26	55295	broad.mit.edu	37	19	18779360	18779360	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:18779360C>T	uc002njz.1	+	3	1180	c.1153C>T	c.(1153-1155)CGC>TGC	p.R385C		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	385	Kelch 2.									ovary(1)	1						CGCCTGCTACCGCTACGACCC	0.662												
CRTC1	23373	broad.mit.edu	37	19	18856697	18856697	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:18856697G>T	uc002nkb.3	+	3	396	c.308G>T	c.(307-309)AGG>ATG	p.R103M	CRTC1_uc010ebv.2_Missense_Mutation_p.R119M|CRTC1_uc010ebw.2_5'Flank|CRTC1_uc002nkc.3_5'Flank	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	103					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						CTGGTGGACAGGGTGTACCGG	0.642												
RFXANK	8625	broad.mit.edu	37	19	19308955	19308955	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:19308955G>A	uc002nls.2	+	7	983	c.478G>A	c.(478-480)GCC>ACC	p.A160T	RFXANK_uc002nlt.2_Missense_Mutation_p.A137T|RFXANK_uc002nlu.2_Missense_Mutation_p.A138T|RFXANK_uc002nlv.2_Missense_Mutation_p.A160T|RFXANK_uc002nlw.2_Missense_Mutation_p.A159T	NM_003721	NP_003712	O14593	RFXK_HUMAN	regulatory factor X-associated	160	ANK 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2			Epithelial(12;0.00228)			GCGAGAGAGCGCCCTGTCGCT	0.602												
TM6SF2	53345	broad.mit.edu	37	19	19381909	19381909	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:19381909C>T	uc002nmd.1	-	2	171	c.121G>A	c.(121-123)GCC>ACC	p.A41T	HAPLN4_uc002nmc.2_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	41	Helical; (Potential).					integral to membrane					0			Epithelial(12;0.0151)			AGGATTAGGGCGCTCATCAAT	0.617												
CILP2	148113	broad.mit.edu	37	19	19655921	19655921	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:19655921G>A	uc002nmv.3	+	8	2652	c.2567G>A	c.(2566-2568)CGT>CAT	p.R856H	CILP2_uc002nmw.3_Missense_Mutation_p.R862H	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	856						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GCCTTCAAGCGTAACGGCTTC	0.701												
ZNF14	7561	broad.mit.edu	37	19	19822871	19822871	+	Nonsense_Mutation	SNP	G	G	A	rs114388860	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:19822871G>A	uc002nnk.1	-	4	1373	c.1219C>T	c.(1219-1221)CGA>TGA	p.R407*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	407	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				TCGTGTTCTCGAAGGGAACTT	0.383												
C19orf12	83636	broad.mit.edu	37	19	30193641	30193641	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:30193641G>A	uc002nsk.2	-	3	835	c.404C>T	c.(403-405)GCC>GTC	p.A135V	C19orf12_uc002nsj.2_Missense_Mutation_p.A146V|C19orf12_uc002nsl.2_3'UTR|C19orf12_uc002nsm.2_RNA	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	hypothetical protein LOC83636 isoform 2	135						integral to membrane					0	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CTGGATCTCGGCCCGCAGCTC	0.627												
ZNF536	9745	broad.mit.edu	37	19	31040213	31040213	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:31040213G>A	uc002nsu.1	+	4	3825	c.3687G>A	c.(3685-3687)CCG>CCA	p.P1229P	ZNF536_uc010edd.1_Silent_p.P1229P	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CCCAAGCACCGGAGAAGCAGT	0.667												
MAG	4099	broad.mit.edu	37	19	35786621	35786621	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:35786621G>A	uc002nyy.1	+	4	301	c.152G>A	c.(151-153)CGG>CAG	p.R51Q	MAG_uc002nyx.1_Missense_Mutation_p.R51Q|MAG_uc010eds.1_Missense_Mutation_p.R26Q|MAG_uc002nyz.1_Missense_Mutation_p.R51Q	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	51	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GATGAGCTGCGGCCCGCTGTG	0.632												
MLL4	9757	broad.mit.edu	37	19	36228111	36228111	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:36228111G>A	uc010eei.2	+	34	7497	c.7497G>A	c.(7495-7497)CAG>CAA	p.Q2499Q		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2499					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGAGGGCCAGGAGGAGCCGC	0.637												
NFKBID	84807	broad.mit.edu	37	19	36380850	36380850	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:36380850C>T	uc002oci.1	-	11	1404	c.830G>A	c.(829-831)CGC>CAC	p.R277H	NFKBID_uc002och.1_Missense_Mutation_p.R114H|NFKBID_uc002ocj.1_Missense_Mutation_p.R292H	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	277					inflammatory response	nucleus					0						CTCCAGGTTGCGCAGTGTGGG	0.697												
LRFN3	79414	broad.mit.edu	37	19	36430728	36430728	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:36430728G>A	uc002oco.2	+	2	853	c.401G>A	c.(400-402)CGC>CAC	p.R134H		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	134	LRR 4.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTCAACTTGCGCCACCTCATC	0.682												
WDR62	284403	broad.mit.edu	37	19	36579994	36579994	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:36579994G>A	uc002odc.2	+	14	1914	c.1823G>A	c.(1822-1824)CGC>CAC	p.R608H	WDR62_uc002odd.2_Missense_Mutation_p.R608H	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	608	WD 9.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCTACTTTCGCAGTGCCCAG	0.632												
CAPN12	147968	broad.mit.edu	37	19	39229238	39229238	+	Silent	SNP	C	C	T	rs148191501	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:39229238C>T	uc002ojd.1	-	6	1089	c.780G>A	c.(778-780)GCG>GCA	p.A260A	CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	260	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGATGGAATACGCGTGTCCCT	0.627												
ECH1	1891	broad.mit.edu	37	19	39306274	39306274	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:39306274G>A	uc002oji.2	-	10	1051	c.966C>T	c.(964-966)ACC>ACT	p.T322T	LGALS4_uc002ojg.2_5'Flank|LGALS4_uc010xuj.1_5'Flank|ECH1_uc002ojh.2_Silent_p.T202T	NM_001398	NP_001389	Q13011	ECH1_HUMAN	peroxisomal enoyl-coenzyme A hydratase-like	322					fatty acid beta-oxidation|generation of precursor metabolites and energy	mitochondrion|peroxisome	enoyl-CoA hydratase activity|isomerase activity|protein binding			ovary(1)	1	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGAAGGTGACGGTTTTCAGTT	0.617												
HNRNPL	3191	broad.mit.edu	37	19	39329104	39329104	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:39329104T>C	uc010xul.1	-	10	1501	c.1490A>G	c.(1489-1491)CAG>CGG	p.Q497R	HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Missense_Mutation_p.Q153R|HNRNPL_uc002ojo.1_Missense_Mutation_p.Q75R|HNRNPL_uc002ojk.2_Missense_Mutation_p.Q153R|HNRNPL_uc002ojl.2_Missense_Mutation_p.Q153R|HNRNPL_uc010xum.1_Missense_Mutation_p.Q364R	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	497					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCTGGGGTGCTGGATGCGGTT	0.582												
TIMM50	92609	broad.mit.edu	37	19	39976855	39976855	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:39976855G>A	uc002olu.1	+	7	963	c.830G>A	c.(829-831)CGC>CAC	p.R277H	TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'UTR	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	174	Mitochondrial intermembrane (Potential).|FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTTAAGAAGCGCCCAGGCATC	0.552												
TTC9B	148014	broad.mit.edu	37	19	40724061	40724061	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:40724061A>G	uc002onc.2	-	1	246	c.228T>C	c.(226-228)TAT>TAC	p.Y76Y		NM_152479	NP_689692	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	76	TPR 1.						binding				0						TCTTCTCTCGATAGCAGCGCT	0.547												
HIPK4	147746	broad.mit.edu	37	19	40886445	40886445	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:40886445G>A	uc002onp.2	-	3	1738	c.1453C>T	c.(1453-1455)CGC>TGC	p.R485C		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	485						cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GCCTTGTGGCGGCCTGCCAGG	0.652												
HIPK4	147746	broad.mit.edu	37	19	40895662	40895662	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:40895662G>A	uc002onp.2	-	1	433	c.148C>T	c.(148-150)CGC>TGC	p.R50C		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	50	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TTGATGATGCGGTTGCGGTAG	0.607												
CYP2B6	1555	broad.mit.edu	37	19	41522587	41522587	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:41522587C>T	uc002opr.1	+	9	1338	c.1331C>T	c.(1330-1332)GCG>GTG	p.A444V	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.A244V	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	444					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)	ATCGCCCGTGCGGAATTGTTC	0.577												
PSG6	5675	broad.mit.edu	37	19	43585190	43585190	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:43585190A>G	uc002ovi.2	-	2	366	c.273T>C	c.(271-273)TAT>TAC	p.Y91Y	PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Silent_p.Y91Y|PSG2_uc002ovq.3_Silent_p.Y91Y|PSG2_uc010eiq.1_Silent_p.Y91Y|PSG2_uc002ovs.3_Silent_p.Y91Y|PSG2_uc002ovt.3_Silent_p.Y91Y			Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	90	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				ATGCAGGCCCATATATAATTA	0.453												
STRN4	29888	broad.mit.edu	37	19	47240136	47240136	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:47240136C>T	uc002pfl.2	-	4	516	c.483G>A	c.(481-483)TCG>TCA	p.S161S	STRN4_uc002pfm.2_Silent_p.S161S|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	161						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCAGGGTGACCGATTCCACGG	0.627												
FUT1	2523	broad.mit.edu	37	19	49253486	49253486	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49253486G>A	uc002pkk.2	-	4	2028	c.1053C>T	c.(1051-1053)GGC>GGT	p.G351G		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	351	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CTGCATTAATGCCCACCCACT	0.552												
NUCB1	4924	broad.mit.edu	37	19	49409052	49409052	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49409052G>A	uc002plb.3	+	4	358	c.286G>A	c.(286-288)GTC>ATC	p.V96I	NUCB1_uc002pla.2_Missense_Mutation_p.V96I|NUCB1_uc002plc.2_Missense_Mutation_p.V96I	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	96						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CAGCCACCACGTCCGCACCAA	0.627												
GYS1	2997	broad.mit.edu	37	19	49488801	49488801	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49488801G>A	uc002plp.2	-	5	981	c.740C>T	c.(739-741)GCG>GTG	p.A247V	GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Missense_Mutation_p.A183V|GYS1_uc010xzz.1_Missense_Mutation_p.A167V|GYS1_uc010yaa.1_RNA	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	247					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GTGGGCTGCCGCCCTTTCCAT	0.582												
RUVBL2	10856	broad.mit.edu	37	19	49514455	49514455	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49514455T>G	uc002plr.1	+	11	902	c.889T>G	c.(889-891)TTC>GTC	p.F297V	RUVBL2_uc002plq.1_Missense_Mutation_p.F252V|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.F252V|RUVBL2_uc010yac.1_Missense_Mutation_p.F252V	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	297					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CAAGGTGCTGTTCATCGACGA	0.647												
TRPM4	54795	broad.mit.edu	37	19	49685991	49685991	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49685991C>T	uc002pmw.2	+	11	1492	c.1420C>T	c.(1420-1422)CGC>TGC	p.R474C	TRPM4_uc010emu.2_Missense_Mutation_p.R474C|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.R300C|TRPM4_uc010emv.2_Missense_Mutation_p.R359C|TRPM4_uc010yal.1_Missense_Mutation_p.R120C|TRPM4_uc002pmy.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	474	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTCGCTCATCCGCAACCTTTT	0.672												
TEAD2	8463	broad.mit.edu	37	19	49862716	49862716	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49862716C>T	uc002pnj.2	-	3	364	c.273G>A	c.(271-273)ACG>ACA	p.T91T	TEAD2_uc002png.2_Silent_p.T91T|TEAD2_uc002pnh.2_Silent_p.T91T|TEAD2_uc002pni.2_Silent_p.T91T|TEAD2_uc010yao.1_5'UTR|TEAD2_uc010emw.2_Silent_p.T91T	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	91	TEA.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		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)		GGGTCTTCCCCGTTCTCAGCT	0.517												
TSKS	60385	broad.mit.edu	37	19	50247622	50247622	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:50247622G>A	uc002ppm.2	-	8	1238	c.1227C>T	c.(1225-1227)AGC>AGT	p.S409S		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	409							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCTCCAGTTCGCTCCTCAGTG	0.582												
TSKS	60385	broad.mit.edu	37	19	50265289	50265289	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:50265289G>A	uc002ppm.2	-	2	382	c.371C>T	c.(370-372)CCG>CTG	p.P124L		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	124							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TGCGTCATCCGGATCCCAGGG	0.632												
SHANK1	50944	broad.mit.edu	37	19	51170213	51170213	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:51170213C>T	uc002psx.1	-	22	5023	c.5004G>A	c.(5002-5004)CCG>CCA	p.P1668P	SHANK1_uc002psw.1_Silent_p.P1052P	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1668					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)		CCGTGCCAGGCGGAGGGTCCG	0.716												
HAS1	3036	broad.mit.edu	37	19	52216788	52216788	+	Silent	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:52216788C>A	uc002pxo.1	-	5	1664	c.1629G>T	c.(1627-1629)GCG>GCT	p.A543A	HAS1_uc010epc.1_Silent_p.A143A|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Silent_p.A550A|HAS1_uc002pxp.1_Silent_p.A542A	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	543	Helical; Name=7; (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGCCGGCCCCCGCGGCCAAGT	0.741												
FPR2	2358	broad.mit.edu	37	19	52272458	52272458	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:52272458T>C	uc002pxr.2	+	2	592	c.547T>C	c.(547-549)TGG>CGG	p.W183R	FPR2_uc002pxs.3_Missense_Mutation_p.W183R|FPR2_uc010epf.2_Missense_Mutation_p.W183R	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	183	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.W183*(1)		lung(3)|ovary(1)	4						CTTTGCATCCTGGGGTGGCAC	0.478												
LILRA4	23547	broad.mit.edu	37	19	54849400	54849400	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:54849400C>T	uc002qfj.2	-	4	519	c.462G>A	c.(460-462)CTG>CTA	p.L154L	LILRA4_uc002qfi.2_Silent_p.L88L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	154	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTTCCTCAATCAGAGTGAACC	0.612												
KIR3DL1	3811	broad.mit.edu	37	19	55378013	55378013	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:55378013G>A	uc002qhl.3	+	9	1258	c.1195G>A	c.(1195-1197)GCA>ACA	p.A399T	KIR3DL2_uc010esh.2_Missense_Mutation_p.A382T|KIR3DL2_uc002qho.3_Missense_Mutation_p.A399T			P43629	KI3L1_HUMAN	SubName: Full=KIR3DS1;	399	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		GGTGACGTACGCACAGTTGGA	0.502												
EPN1	29924	broad.mit.edu	37	19	56203330	56203330	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:56203330G>A	uc002qlw.2	+	7	1315	c.973G>A	c.(973-975)GCC>ACC	p.A325T	EPN1_uc002qlv.2_Missense_Mutation_p.A300T|EPN1_uc010etd.2_Missense_Mutation_p.A325T|EPN1_uc002qlx.2_Missense_Mutation_p.A411T	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	325	Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GAGGCCTGCTGCCCCTGCAGG	0.721												
ZNF416	55659	broad.mit.edu	37	19	58084689	58084689	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:58084689A>G	uc002qpf.2	-	4	754	c.583T>C	c.(583-585)TAT>CAT	p.Y195H	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GGCTTCTCATAGTTAGCAATA	0.478												
ZNF671	79891	broad.mit.edu	37	19	58238780	58238780	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:58238780C>T	uc002qpz.3	-	1	216	c.117G>A	c.(115-117)GCG>GCA	p.A39A	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_5'UTR	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCGTTAGCTCCGCCATAGGAC	0.687												
TRIM28	10155	broad.mit.edu	37	19	59061548	59061548	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:59061548T>C	uc002qtg.1	+	16	2517	c.2228T>C	c.(2227-2229)ATC>ACC	p.I743T	TRIM28_uc010eut.1_Missense_Mutation_p.I661T|TRIM28_uc002qth.1_Missense_Mutation_p.I358T	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	743	Bromo.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGACCCTGATCCGTGCCCGC	0.478												
PXDN	7837	broad.mit.edu	37	2	1652363	1652363	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:1652363G>A	uc002qxa.2	-	17	3253	c.3189C>T	c.(3187-3189)AAC>AAT	p.N1063N		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1063					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)		TGGCGAAGGCGTTGAAGATGC	0.612												
NBAS	51594	broad.mit.edu	37	2	15326941	15326941	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:15326941G>T	uc002rcc.1	-	50	6662	c.6636C>A	c.(6634-6636)AAC>AAA	p.N2212K	NBAS_uc002rcb.1_Missense_Mutation_p.N52K|NBAS_uc010exl.1_Missense_Mutation_p.N1284K|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	2212										ovary(2)|liver(1)|skin(1)	4						ATCCTTCCTTGTTCTCCATCG	0.423												
NBAS	51594	broad.mit.edu	37	2	15679374	15679374	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:15679374C>T	uc002rcc.1	-	7	512	c.486G>A	c.(484-486)ATG>ATA	p.M162I	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	162	WD 1.									ovary(2)|liver(1)|skin(1)	4						GTTCACTTCCCATGAGATCAA	0.423												
VSNL1	7447	broad.mit.edu	37	2	17773346	17773346	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:17773346G>T	uc002rcm.2	+	2	389	c.5G>T	c.(4-6)GGG>GTG	p.G2V		NM_003385	NP_003376	P62760	VISL1_HUMAN	visinin-like 1	2							calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCAGGATGGGGAAGCAGAAT	0.458												
ITSN2	50618	broad.mit.edu	37	2	24426495	24426495	+	Nonstop_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:24426495C>A	uc002rfe.2	-	40	5352	c.5094G>T	c.(5092-5094)TAG>TAT	p.*1698Y	ITSN2_uc002rff.2_Nonstop_Mutation_p.*1671Y	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	1698					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)					TTTAGAACCCCTACAGGAGAG	0.592												
POMC	5443	broad.mit.edu	37	2	25384074	25384074	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:25384074C>T	uc002rfy.1	-	4	943	c.680G>A	c.(679-681)CGC>CAC	p.R227H	POMC_uc002rfz.1_Missense_Mutation_p.R227H|POMC_uc002rga.1_Missense_Mutation_p.R227H	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	227					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GCTGCCCCAGCGGAAGTGCTC	0.657												
HADHB	3032	broad.mit.edu	37	2	26499963	26499963	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:26499963C>T	uc002rgz.2	+	7	628	c.377C>T	c.(376-378)TCT>TTT	p.S126F	HADHB_uc010ykv.1_Missense_Mutation_p.S104F|HADHB_uc010ykw.1_Missense_Mutation_p.S111F|HADHB_uc002rha.2_Missense_Mutation_p.S126F|HADHB_uc010ykx.1_Missense_Mutation_p.S52F	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	126					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGCTTCTCTGACAAGACT	0.433												
EMILIN1	11117	broad.mit.edu	37	2	27306197	27306197	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:27306197C>T	uc002rii.3	+	4	2186	c.1758C>T	c.(1756-1758)GGC>GGT	p.G586G	EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	586	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCTGTGGCGGAGTCCAAG	0.672												
CAD	790	broad.mit.edu	37	2	27461393	27461393	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:27461393G>A	uc002rji.2	+	31	5117	c.4955G>A	c.(4954-4956)CGC>CAC	p.R1652H	CAD_uc010eyw.2_Missense_Mutation_p.R1589H	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1652	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GACCTGGAGCGCCTGGGGCCT	0.622												
YPEL5	51646	broad.mit.edu	37	2	30379581	30379581	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:30379581A>G	uc002rna.3	+	4	625	c.64A>G	c.(64-66)ACG>GCG	p.T22A	YPEL5_uc002rnb.3_Missense_Mutation_p.T22A|YPEL5_uc002rnc.3_Missense_Mutation_p.T22A|YPEL5_uc002rmz.3_Missense_Mutation_p.T22A|YPEL5_uc010ezn.2_Intron|YPEL5_uc002rnd.2_Missense_Mutation_p.T22A	NM_001127401	NP_001120873	P62699	YPEL5_HUMAN	yippee-like 5	22							peptide-methionine-(S)-S-oxide reductase activity				0	Acute lymphoblastic leukemia(172;0.155)					AAACTGTGATACGATCCTGAC	0.423												
ATL2	64225	broad.mit.edu	37	2	38540317	38540317	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:38540317C>T	uc002rqq.2	-	7	810	c.780G>A	c.(778-780)AAG>AAA	p.K260K	ATL2_uc010ynm.1_Silent_p.K242K|ATL2_uc010ynn.1_Silent_p.K242K|ATL2_uc010yno.1_Silent_p.K89K|ATL2_uc002rqs.2_Silent_p.K260K|ATL2_uc002rqr.2_Silent_p.K89K	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	260	Potential.|Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						CAAGAAATTGCTTTCCACCTT	0.378												
SOS1	6654	broad.mit.edu	37	2	39213084	39213084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:39213084G>A	uc002rrk.3	-	23	3924	c.3883C>T	c.(3883-3885)CGA>TGA	p.R1295*	SOS1_uc002rrj.3_Nonsense_Mutation_p.R894*	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1295					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				GTGCTTTGTCGTGGAGGAACA	0.502									Noonan_syndrome			
LRPPRC	10128	broad.mit.edu	37	2	44139614	44139614	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:44139614T>C	uc002rtr.2	-	30	3290	c.3232A>G	c.(3232-3234)ATG>GTG	p.M1078V	LRPPRC_uc010yob.1_Missense_Mutation_p.M978V	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	1078	PPR 16.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTTCTGACATCAGTAATTTA	0.323												
PREPL	9581	broad.mit.edu	37	2	44569598	44569598	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:44569598T>C	uc002ruf.2	-	5	745	c.710A>G	c.(709-711)GAT>GGT	p.D237G	PREPL_uc002rug.2_Missense_Mutation_p.D237G|PREPL_uc002ruh.2_Missense_Mutation_p.D237G|PREPL_uc010fax.2_Missense_Mutation_p.D237G|PREPL_uc002rui.3_Missense_Mutation_p.D148G|PREPL_uc002ruj.1_Missense_Mutation_p.D148G|PREPL_uc002ruk.1_Missense_Mutation_p.D237G	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	237					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACGTTTGTTATCACCAAAAGT	0.378												
NRXN1	9378	broad.mit.edu	37	2	51254743	51254743	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:51254743G>A	uc010fbq.2	-	2	2146	c.669C>T	c.(667-669)GGC>GGT	p.G223G	NRXN1_uc002rxe.3_Silent_p.G223G|NRXN1_uc002rxd.1_Silent_p.G223G	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCCGCCCTCGCCCTCCTCGC	0.716												
NRXN1	9378	broad.mit.edu	37	2	51254815	51254815	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:51254815G>A	uc010fbq.2	-	2	2074	c.597C>T	c.(595-597)AGC>AGT	p.S199S	NRXN1_uc002rxe.3_Silent_p.S199S|NRXN1_uc002rxd.1_Silent_p.S199S	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCACCTCGCCGCTGTCCACGG	0.701												
BCL11A	53335	broad.mit.edu	37	2	60689540	60689540	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:60689540G>A	uc002sae.1	-	4	735	c.507C>T	c.(505-507)AGC>AGT	p.S169S	BCL11A_uc002sab.2_Silent_p.S169S|BCL11A_uc002sac.2_Silent_p.S169S|BCL11A_uc010ypi.1_Silent_p.S17S|BCL11A_uc010ypj.1_Silent_p.S135S|BCL11A_uc002sad.1_Silent_p.S17S|BCL11A_uc002saf.1_Silent_p.S135S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	169	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TACATGTGTAGCTGCTGGGCT	0.423			T	IGH@	B-CLL							
CNRIP1	25927	broad.mit.edu	37	2	68521133	68521133	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:68521133G>A	uc002sek.3	-	3	1007	c.356C>T	c.(355-357)ACA>ATA	p.T119I	CNRIP1_uc002sej.3_Intron|CNRIP1_uc002sem.1_RNA|CNRIP1_uc002sel.3_RNA	NM_015463	NP_056278	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	119							protein binding			liver(1)	1						TTGCCACACTGTCTCGAAGGT	0.468												
DQX1	165545	broad.mit.edu	37	2	74750442	74750442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:74750442G>A	uc010yrw.1	-	5	1204	c.1039C>T	c.(1039-1041)CGA>TGA	p.R347*	DQX1_uc002smc.2_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	347	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						CTCACACTTCGGAGCTCCAGT	0.547												
LOXL3	84695	broad.mit.edu	37	2	74762732	74762732	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:74762732C>T	uc002smp.1	-	8	1471	c.1399G>A	c.(1399-1401)GCC>ACC	p.A467T	LOXL3_uc002smo.1_Missense_Mutation_p.A106T|LOXL3_uc010ffm.1_Intron|LOXL3_uc002smq.1_Missense_Mutation_p.A322T|LOXL3_uc010ffn.1_Missense_Mutation_p.A322T	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	467	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						CCGTGGTTGGCGTAGCCCAGA	0.632												
LRRTM1	347730	broad.mit.edu	37	2	80529622	80529622	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:80529622G>A	uc002sok.1	-	2	1593	c.1323C>T	c.(1321-1323)ATC>ATT	p.I441I	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	441	Helical; (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CCAGGACCACGATGAGGAAGG	0.607										HNSCC(69;0.2)		
ADRA2B	151	broad.mit.edu	37	2	96781701	96781701	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:96781701G>A	uc002svi.2	-	1	188	c.188C>T	c.(187-189)ACG>ATG	p.T63M		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	63	Helical; Name=2; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GATGATGAGCGTGGCCACCAG	0.652												
ZAP70	7535	broad.mit.edu	37	2	98351712	98351712	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:98351712G>T	uc002syd.1	+	10	1290	c.1083_splice	c.e10-1	p.K361_splice	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Splice_Site_p.K251_splice|ZAP70_uc002syf.1_Splice_Site_p.K54_splice	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa						immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GGGTCGGGCAGGAAGCAGATC	0.662												
TMEM131	23505	broad.mit.edu	37	2	98392356	98392356	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:98392356A>T	uc002syh.3	-	32	4499	c.4270T>A	c.(4270-4272)TCC>ACC	p.S1424T		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1424	Lys-rich.					integral to membrane				ovary(4)|central_nervous_system(2)	6						GTGGTGGTGGAGGAGCTATCA	0.517												
UXS1	80146	broad.mit.edu	37	2	106761649	106761649	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:106761649C>T	uc002tdm.2	-	6	552	c.454G>A	c.(454-456)GAG>AAG	p.E152K	UXS1_uc002tdn.2_Missense_Mutation_p.E157K|UXS1_uc002tdo.2_Missense_Mutation_p.E95K|UXS1_uc010ywh.1_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	152	Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2						CACTCACCCTCGATGTAGAGG	0.517												
RANBP2	5903	broad.mit.edu	37	2	109384547	109384547	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:109384547T>C	uc002tem.3	+	20	7678	c.7552T>C	c.(7552-7554)TCA>CCA	p.S2518P		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2518					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						TGTATTTGGTTCAGAGTCTGT	0.388												
STEAP3	55240	broad.mit.edu	37	2	120005698	120005698	+	Silent	SNP	C	C	T	rs145832236		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:120005698C>T	uc002tlp.2	+	4	1093	c.936C>T	c.(934-936)TGC>TGT	p.C312C	STEAP3_uc002tlq.2_Silent_p.C322C|STEAP3_uc002tlr.2_Silent_p.C312C|STEAP3_uc010fle.2_Silent_p.C312C	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	312	Ferric oxidoreductase.|Helical; (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						GCTTCTTCTGCGCCGCCCTGC	0.677												
GLI2	2736	broad.mit.edu	37	2	121740422	121740422	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:121740422G>A	uc010flp.2	+	10	1679	c.1649G>A	c.(1648-1650)CGC>CAC	p.R550H	GLI2_uc002tmq.1_Missense_Mutation_p.R222H|GLI2_uc002tmr.1_Missense_Mutation_p.R205H|GLI2_uc002tmt.3_Missense_Mutation_p.R222H|GLI2_uc002tmu.3_Missense_Mutation_p.R205H|GLI2_uc002tmw.1_Missense_Mutation_p.R533H	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	550	C2H2-type 4.				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)				GCCTCGGACCGCGCCAAGCAC	0.632												
GLI2	2736	broad.mit.edu	37	2	121743883	121743883	+	Silent	SNP	G	G	A	rs114259687	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:121743883G>A	uc010flp.2	+	12	2016	c.1986G>A	c.(1984-1986)TCG>TCA	p.S662S	GLI2_uc002tmq.1_Silent_p.S334S|GLI2_uc002tmr.1_Silent_p.S317S|GLI2_uc002tmt.3_Silent_p.S334S|GLI2_uc002tmu.3_Silent_p.S317S|GLI2_uc002tmw.1_Silent_p.S645S	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	662					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)				GGGCCCAGTCGTCCTGCAGCA	0.667												
CLASP1	23332	broad.mit.edu	37	2	122165239	122165239	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:122165239T>C	uc002tnc.2	-	25	2867	c.2477A>G	c.(2476-2478)GAT>GGT	p.D826G	CLASP1_uc010yyv.1_5'UTR|CLASP1_uc002tmz.2_5'UTR|CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.D806G|CLASP1_uc010yza.1_Missense_Mutation_p.D798G|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.D797G	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	826					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					ACTGTTGGCATCATCGTCAGA	0.493												
BIN1	274	broad.mit.edu	37	2	127808729	127808729	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:127808729C>T	uc002tns.1	-	16	1806	c.1461_splice	c.e16+1	p.S487_splice	BIN1_uc010yzf.1_Intron|BIN1_uc010yzg.1_Splice_Site_p.S364_splice|BIN1_uc002tnu.1_Intron|BIN1_uc002toa.1_Splice_Site_p.S376_splice|BIN1_uc002tnt.1_Intron|BIN1_uc002tnv.1_Splice_Site_p.S444_splice|BIN1_uc002tnw.1_Splice_Site_p.S391_splice|BIN1_uc002tnx.1_Splice_Site_p.S348_splice|BIN1_uc002tny.1_Splice_Site_p.S400_splice|BIN1_uc002tnz.1_Splice_Site_p.S412_splice|BIN1_uc002tob.1_Splice_Site_p.S333_splice|BIN1_uc002toc.1_Splice_Site_p.S369_splice	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1						cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGCTGTCTTACGGAGGCTGCT	0.692												
BIN1	274	broad.mit.edu	37	2	127828152	127828152	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:127828152C>A	uc002tns.1	-	4	637	c.292G>T	c.(292-294)GAT>TAT	p.D98Y	BIN1_uc010yzf.1_Missense_Mutation_p.D74Y|BIN1_uc010yzg.1_Missense_Mutation_p.D98Y|BIN1_uc002tnu.1_Missense_Mutation_p.D98Y|BIN1_uc002toa.1_Missense_Mutation_p.D98Y|BIN1_uc002tnt.1_Missense_Mutation_p.D98Y|BIN1_uc002tnv.1_Missense_Mutation_p.D98Y|BIN1_uc002tnw.1_Missense_Mutation_p.D98Y|BIN1_uc002tnx.1_Missense_Mutation_p.D98Y|BIN1_uc002tny.1_Missense_Mutation_p.D98Y|BIN1_uc002tnz.1_Missense_Mutation_p.D98Y|BIN1_uc002tob.1_Missense_Mutation_p.D98Y|BIN1_uc002toc.1_Missense_Mutation_p.D98Y	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	98	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTTGCCTCATCCCTGCCGGGC	0.607												
HS6ST1	9394	broad.mit.edu	37	2	129075996	129075996	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:129075996G>C	uc002tpt.3	-	1	176	c.142C>G	c.(142-144)CGC>GGC	p.R48G		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	48	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ggcggcgcgcggccgccgggc	0.542												
IMP4	92856	broad.mit.edu	37	2	131103230	131103230	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:131103230G>A	uc002tra.1	+	5	414	c.397G>A	c.(397-399)GTC>ATC	p.V133I		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein,	133	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)	2	Colorectal(110;0.1)					AGCCAACGGCGTCACCGATCT	0.667												
LCT	3938	broad.mit.edu	37	2	136548299	136548299	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:136548299C>T	uc002tuu.1	-	15	5275	c.5264G>A	c.(5263-5265)CGG>CAG	p.R1755Q		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1755	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)		TGTTTCTTCCCGCTGGGACAC	0.512												
LCT	3938	broad.mit.edu	37	2	136567157	136567157	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:136567157G>A	uc002tuu.1	-	8	2771	c.2760C>T	c.(2758-2760)GGC>GGT	p.G920G		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	920	3.|Extracellular (Potential).|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)		CATCCCACGCGCCTTCAATCT	0.537												
LCT	3938	broad.mit.edu	37	2	136594315	136594315	+	Missense_Mutation	SNP	C	C	T	rs143420596		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:136594315C>T	uc002tuu.1	-	1	436	c.425G>A	c.(424-426)CGG>CAG	p.R142Q		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	142	Extracellular (Potential).|4 X approximate repeats.|1.				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)		TTCGGTTCTCCGGAGGGTGCT	0.597												
NEB	4703	broad.mit.edu	37	2	152426860	152426860	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:152426860C>T	uc010fnx.2	-	81	12253	c.12062G>A	c.(12061-12063)GGC>GAC	p.G4021D	NEB_uc002txr.2_Missense_Mutation_p.G444D	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4021	Nebulin 110.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGAGGGTGCCCACGTAGTG	0.507												
PKP4	8502	broad.mit.edu	37	2	159481624	159481624	+	Missense_Mutation	SNP	G	G	A	rs138802591	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:159481624G>A	uc002tzv.2	+	7	1098	c.838G>A	c.(838-840)GCC>ACC	p.A280T	PKP4_uc002tzt.1_Missense_Mutation_p.A132T|PKP4_uc002tzu.2_Missense_Mutation_p.A280T|PKP4_uc002tzw.2_Missense_Mutation_p.A280T|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.A278T|PKP4_uc002uaa.2_Missense_Mutation_p.A132T	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	280					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						ACAGAGACCCGCCTCCCCAAC	0.612										HNSCC(62;0.18)		
IFIH1	64135	broad.mit.edu	37	2	163138979	163138979	+	Silent	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:163138979T>C	uc002uce.2	-	6	1425	c.1203A>G	c.(1201-1203)CCA>CCG	p.P401P		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	401	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						TGACAACTTCTGGAAATGATA	0.373												
GALNT3	2591	broad.mit.edu	37	2	166606314	166606314	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:166606314C>T	uc010fph.1	-	10	2104	c.1717G>A	c.(1717-1719)GCA>ACA	p.A573T		NM_004482	NP_004473	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	573	Ricin B-type lectin.|Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(2)|ovary(1)	3						TAGGTACATGCCTTCAGCTGA	0.413												
SCN1A	6323	broad.mit.edu	37	2	166848219	166848219	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:166848219T>C	uc010zcz.1	-	26	5551	c.5533A>G	c.(5533-5535)ATG>GTG	p.M1845V		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1856						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCACTCACCATGGGCAAATCC	0.453												
LRP2	4036	broad.mit.edu	37	2	170097611	170097611	+	Missense_Mutation	SNP	C	C	T	rs140748929		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:170097611C>T	uc002ues.2	-	25	4145	c.3932G>A	c.(3931-3933)CGC>CAC	p.R1311H	LRP2_uc010zdf.1_Missense_Mutation_p.R1174H	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1311	LDL-receptor class A 15.|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)	ACTAGGACAGCGAAAGGGCTG	0.517												
C2orf77	129881	broad.mit.edu	37	2	170537614	170537614	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:170537614G>T	uc002ufe.2	-	2	291	c.197C>A	c.(196-198)ACA>AAA	p.T66K		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	66	Potential.										0						TGCTTCTCTTGTCAACCTGTC	0.433												
TLK1	9874	broad.mit.edu	37	2	171867901	171867901	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:171867901G>A	uc002ugn.2	-	14	1870	c.1398C>T	c.(1396-1398)GGC>GGT	p.G466G	TLK1_uc002ugo.2_Silent_p.G487G|TLK1_uc002ugp.2_Silent_p.G418G|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Silent_p.G370G	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	466	Protein kinase.|ATP (By similarity).				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						CTTCACTAAAGCCACCTCTAC	0.328												
HOXD13	3239	broad.mit.edu	37	2	176958274	176958274	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:176958274G>A	uc002ukf.1	+	1	743	c.656G>A	c.(655-657)CGG>CAG	p.R219Q		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	219					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GGGGAGCCTCGGCACGAGGCC	0.617			T	NUP98	AML*							
HOXD13	3239	broad.mit.edu	37	2	176959377	176959377	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:176959377G>T	uc002ukf.1	+	2	1038	c.951G>T	c.(949-951)GAG>GAT	p.E317D		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	317	Homeobox.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ACCTATCTGAGAGACAAGTGA	0.463			T	NUP98	AML*							
TTN	7273	broad.mit.edu	37	2	179395823	179395823	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:179395823G>A	uc010zfg.1	-	307	98039	c.97815C>T	c.(97813-97815)GCC>GCT	p.A32605A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A26300A|TTN_uc010zfi.1_Silent_p.A26233A|TTN_uc010zfj.1_Silent_p.A26108A|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33532							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)			CTTGGTGGCGGGCAGAAGTAC	0.512												
TTN	7273	broad.mit.edu	37	2	179414508	179414508	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:179414508G>A	uc010zfg.1	-	287	84461	c.84237C>T	c.(84235-84237)GAC>GAT	p.D28079D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D21774D|TTN_uc010zfi.1_Silent_p.D21707D|TTN_uc010zfj.1_Silent_p.D21582D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29006							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)			GAGCACAACCGTCATTGAGTG	0.443												
TTN	7273	broad.mit.edu	37	2	179427631	179427631	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:179427631C>T	uc010zfg.1	-	275	75748	c.75524G>A	c.(75523-75525)CGG>CAG	p.R25175Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R18870Q|TTN_uc010zfi.1_Missense_Mutation_p.R18803Q|TTN_uc010zfj.1_Missense_Mutation_p.R18678Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26102							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)			CAGATTATACCGACCACTGTC	0.413												
TTN	7273	broad.mit.edu	37	2	179436307	179436307	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:179436307G>C	uc010zfg.1	-	275	67072	c.66848C>G	c.(66847-66849)ACT>AGT	p.T22283S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T15978S|TTN_uc010zfi.1_Missense_Mutation_p.T15911S|TTN_uc010zfj.1_Missense_Mutation_p.T15786S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23210							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)			GGTTGTGGAAGTGTCCCGTTT	0.418												
TTN	7273	broad.mit.edu	37	2	179584466	179584466	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:179584466A>G	uc010zfg.1	-	79	20245	c.20021T>C	c.(20020-20022)CTC>CCC	p.L6674P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3335P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7601							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)			CTTGGCTGAGAGTTCTGGTGT	0.433												
TTN	7273	broad.mit.edu	37	2	179596254	179596254	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:179596254C>T	uc010zfg.1	-	56	13731	c.13507G>A	c.(13507-13509)GCT>ACT	p.A4503T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1164T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5430							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)			TGGAAGGCAGCTGTGCCTCCC	0.453												
PDE1A	5136	broad.mit.edu	37	2	183095853	183095853	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:183095853A>G	uc002uos.2	-	6	555	c.471T>C	c.(469-471)GTT>GTC	p.V157V	PDE1A_uc010zfp.1_Silent_p.V53V|PDE1A_uc002uoq.1_Silent_p.V157V|PDE1A_uc010zfq.1_Silent_p.V157V|PDE1A_uc002uor.2_Silent_p.V141V|PDE1A_uc002uou.2_Silent_p.V123V	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	157					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACCATTTATCAACATCCTGTA	0.323												
COL3A1	1281	broad.mit.edu	37	2	189875616	189875616	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:189875616G>A	uc002uqj.1	+	50	4371	c.4254G>A	c.(4252-4254)ACG>ACA	p.T1418T		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1418	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATGGTTGCACGGTAGGAAACA	0.348												
SLC39A10	57181	broad.mit.edu	37	2	196571395	196571395	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:196571395C>T	uc002utg.3	+	4	1486	c.1272C>T	c.(1270-1272)GGC>GGT	p.G424G	SLC39A10_uc002uth.3_Silent_p.G424G|SLC39A10_uc010zgp.1_5'UTR	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	424	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CCTTGCTAGGCGTGATCTTGG	0.383												
HECW2	57520	broad.mit.edu	37	2	197183693	197183693	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:197183693C>T	uc002utm.1	-	9	2104	c.1921G>A	c.(1921-1923)GCT>ACT	p.A641T	HECW2_uc002utl.1_Missense_Mutation_p.A285T	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	641					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						GAGCTGTCAGCGCATTCCAGG	0.582												
SPATS2L	26010	broad.mit.edu	37	2	201342742	201342742	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:201342742G>A	uc002uvn.3	+	13	2017	c.1665G>A	c.(1663-1665)ACG>ACA	p.T555T	SPATS2L_uc010fst.2_Silent_p.T555T|SPATS2L_uc002uvo.3_Silent_p.T495T|SPATS2L_uc002uvp.3_Silent_p.T555T|SPATS2L_uc002uvq.3_Silent_p.T486T|SPATS2L_uc002uvr.3_Silent_p.T555T|SPATS2L_uc010zhc.1_Silent_p.T585T	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	555						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						CGGCTGTGACGTTGGTGGCCT	0.532												
STRADB	55437	broad.mit.edu	37	2	202337717	202337717	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:202337717G>A	uc002uyd.3	+	5	598	c.233G>A	c.(232-234)CGG>CAG	p.R78Q		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	78	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			skin(2)|stomach(1)|lung(1)	4						CATCTTGCACGGCATACTCCC	0.323												
FZD7	8324	broad.mit.edu	37	2	202900121	202900121	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:202900121C>T	uc002uyw.1	+	1	812	c.751C>T	c.(751-753)CGC>TGC	p.R251C		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	251	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						GGAGGAGAGGCGCTTCGCCCG	0.657											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FZD7	8324	broad.mit.edu	37	2	202900156	202900156	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:202900156G>A	uc002uyw.1	+	1	847	c.786G>A	c.(784-786)GTG>GTA	p.V262V		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	262	Helical; Name=1; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						TGTGGTCCGTGCTGTGCTGCG	0.647											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CD28	940	broad.mit.edu	37	2	204571310	204571310	+	Translation_Start_Site	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:204571310G>A	uc002vah.3	+	1	113	c.-109G>A	c.(-111--107)CCGTG>CCATG		CD28_uc002vag.1_RNA|CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Translation_Start_Site|CD28_uc002vaj.3_RNA	NM_006139	NP_006130	P10747	CD28_HUMAN	CD28 antigen precursor						cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity				0						GGTGGTGGCCGTGGATGACGG	0.577												
FZD5	7855	broad.mit.edu	37	2	208631836	208631836	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:208631836C>T	uc002vcj.2	-	2	2038	c.1628G>A	c.(1627-1629)CGC>CAC	p.R543H		NM_003468	NP_003459	Q13467	FZD5_HUMAN	frizzled 5 precursor	543	Cytoplasmic (Potential).				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			ovary(2)|lung(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CTTGTGGCCGCGCCGCGGGCG	0.642												
SMARCAL1	50485	broad.mit.edu	37	2	217315719	217315719	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:217315719C>T	uc002vgc.3	+	12	2332	c.2002C>T	c.(2002-2004)CGG>TGG	p.R668W	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.R668W|SMARCAL1_uc010fvg.2_Missense_Mutation_p.R646W	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	668					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCCCAGGACGGATCAATGC	0.587									Schimke_Immuno-Osseous_Dysplasia			
VIL1	7429	broad.mit.edu	37	2	219301941	219301941	+	Missense_Mutation	SNP	G	G	A	rs145276026	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:219301941G>A	uc002via.2	+	17	2131	c.2066G>A	c.(2065-2067)CGT>CAT	p.R689H	VIL1_uc010zke.1_Missense_Mutation_p.R378H|VIL1_uc002vib.2_Missense_Mutation_p.R689H	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	689	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGCGGGCGTGACCCTGAG	0.572												
PLCD4	84812	broad.mit.edu	37	2	219492818	219492818	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:219492818T>C	uc002vij.1	+	7	1034	c.839T>C	c.(838-840)ATC>ACC	p.I280T	PLCD4_uc002vik.1_Missense_Mutation_p.I127T|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	280					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GATGGAGACATCTTCAACCCA	0.527												
ZNF142	7701	broad.mit.edu	37	2	219513641	219513641	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:219513641G>A	uc002vin.2	-	6	1426	c.990C>T	c.(988-990)GCC>GCT	p.A330A	ZNF142_uc002vil.2_Silent_p.A291A|ZNF142_uc010fvt.2_Silent_p.A167A|ZNF142_uc002vim.2_Silent_p.A167A	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	330	C2H2-type 5.				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)		CCATGGCTTCGGCTGTGGCAA	0.562											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CCDC108	255101	broad.mit.edu	37	2	219893036	219893036	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:219893036G>A	uc002vjl.1	-	12	1822	c.1738C>T	c.(1738-1740)CGC>TGC	p.R580C	CCDC108_uc010fwa.1_Missense_Mutation_p.R23C|CCDC108_uc010zkp.1_Missense_Mutation_p.R569C|CCDC108_uc010zkq.1_Missense_Mutation_p.R515C	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	580						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTGTGTGCGGTACCAGGTG	0.612												
CCDC108	255101	broad.mit.edu	37	2	219894817	219894817	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:219894817C>T	uc002vjl.1	-	10	1359	c.1275G>A	c.(1273-1275)TCG>TCA	p.S425S	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Silent_p.S414S|CCDC108_uc010zkq.1_Silent_p.S360S	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	425						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGAACACCGACACACATT	0.547											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GLB1L	79411	broad.mit.edu	37	2	220104675	220104675	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:220104675G>A	uc002vkm.2	-	7	927	c.688C>T	c.(688-690)CGG>TGG	p.R230W	GLB1L_uc002vkk.2_Intron|GLB1L_uc010zkx.1_Intron|GLB1L_uc002vkn.2_Missense_Mutation_p.R230W	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like precursor	230					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds				0		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGAGTCCCCGGAGGGAGCCA	0.532												
DNAJB2	3300	broad.mit.edu	37	2	220147591	220147591	+	Missense_Mutation	SNP	C	C	T	rs34872934		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:220147591C>T	uc002vkx.1	+	6	622	c.385C>T	c.(385-387)CGG>TGG	p.R129W	DNAJB2_uc002vkw.1_Missense_Mutation_p.R129W|DNAJB2_uc002vky.2_5'UTR|DNAJB2_uc010zlb.1_5'UTR	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	129					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding				0		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTTCAGAACCGGGGTTCCCG	0.532												
OBSL1	23363	broad.mit.edu	37	2	220419341	220419341	+	Silent	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:220419341T>C	uc010fwk.2	-	15	4788	c.4731A>G	c.(4729-4731)GTA>GTG	p.V1577V		NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1577					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GATACAGCTGTACTCCACCCC	0.647												
OBSL1	23363	broad.mit.edu	37	2	220431817	220431817	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:220431817C>A	uc010fwk.2	-	5	1926	c.1869G>T	c.(1867-1869)GAG>GAT	p.E623D	OBSL1_uc010fwl.1_Missense_Mutation_p.E98D|OBSL1_uc002vmi.2_Missense_Mutation_p.E623D|OBSL1_uc002vmj.2_Missense_Mutation_p.E210D	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	623					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCTGCACATCCTCCAGACCTG	0.587												
OBSL1	23363	broad.mit.edu	37	2	220433041	220433041	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:220433041G>A	uc010fwk.2	-	2	1075	c.1018C>T	c.(1018-1020)CGC>TGC	p.R340C	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R340C|OBSL1_uc002vmj.2_5'UTR	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	340	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AACCGGAGGCGGGGCTCTGTG	0.612											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
COL4A3	1285	broad.mit.edu	37	2	228155478	228155478	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:228155478G>A	uc002vom.1	+	37	3248	c.3086G>A	c.(3085-3087)AGG>AAG	p.R1029K	COL4A3_uc002von.1_Missense_Mutation_p.R1029K|COL4A3_uc002voo.1_Missense_Mutation_p.R1029K|COL4A3_uc002vop.1_Missense_Mutation_p.R1029K|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1029	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAAGGAAAAAGGGGAACTTTG	0.423												
SPHKAP	80309	broad.mit.edu	37	2	228883795	228883795	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:228883795G>T	uc002vpq.2	-	7	1822	c.1775C>A	c.(1774-1776)GCA>GAA	p.A592E	SPHKAP_uc002vpp.2_Missense_Mutation_p.A592E|SPHKAP_uc010zlx.1_Missense_Mutation_p.A592E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	592						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCCTCAGCTGCAGGCGGGAG	0.577												
SP100	6672	broad.mit.edu	37	2	231307780	231307780	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:231307780G>A	uc002vqt.2	+	3	377	c.236G>A	c.(235-237)CGT>CAT	p.R79H	SP100_uc002vqs.2_Missense_Mutation_p.R79H|SP100_uc002vqu.1_Missense_Mutation_p.R79H|SP100_uc010zmb.1_Missense_Mutation_p.R79H|SP100_uc002vqq.1_Missense_Mutation_p.R79H|SP100_uc002vqr.1_Missense_Mutation_p.R54H|SP100_uc010zmc.1_Missense_Mutation_p.R54H|SP100_uc002vqv.1_Missense_Mutation_p.R43H	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	79	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAGGGCCTCCGTGATCGTGAT	0.363												
NCL	4691	broad.mit.edu	37	2	232326264	232326264	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:232326264G>A	uc002vru.2	-	3	741	c.600C>T	c.(598-600)GAC>GAT	p.D200D	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	200	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		cttcctcatcgtcatcgtcat	0.323												
ALPP	250	broad.mit.edu	37	2	233246288	233246288	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:233246288G>A	uc002vsq.2	+	11	1556	c.1391G>A	c.(1390-1392)CGC>CAC	p.R464H	ALPP_uc002vsr.2_RNA	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	464						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GTGTTCGCGCGCGGCCCGCAG	0.682												
SAG	6295	broad.mit.edu	37	2	234247347	234247347	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:234247347G>A	uc002vuh.2	+	12	1358	c.970G>A	c.(970-972)GTC>ATC	p.V324I	SAG_uc010zmq.1_Missense_Mutation_p.V190I	NM_000541	NP_000532	P10523	ARRS_HUMAN	S-arrestin	324					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			ovary(1)	1		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AGACCGGACCGTCCTGGGAAT	0.547												
DGKD	8527	broad.mit.edu	37	2	234356822	234356822	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:234356822G>A	uc002vui.1	+	13	1521	c.1509G>A	c.(1507-1509)TCG>TCA	p.S503S	DGKD_uc002vuj.1_Silent_p.S459S|DGKD_uc010fyh.1_Silent_p.S370S|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	503					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCATCTCCTCGGCCAAGTGAG	0.577												
USP40	55230	broad.mit.edu	37	2	234398032	234398032	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:234398032C>T	uc010zmr.1	-	26	3143	c.3143G>A	c.(3142-3144)CGA>CAA	p.R1048Q	USP40_uc002vul.2_Missense_Mutation_p.R32Q|USP40_uc010zms.1_Missense_Mutation_p.R146Q|USP40_uc002vun.2_Missense_Mutation_p.R212Q	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	1036					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCGGTCAGTTCGTAAAAGCCT	0.612												
USP40	55230	broad.mit.edu	37	2	234442369	234442369	+	Silent	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:234442369A>T	uc010zmr.1	-	10	1260	c.1260T>A	c.(1258-1260)CGT>CGA	p.R420R	USP40_uc010zmt.1_Silent_p.R64R	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	408					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TCTTCAAGAGACGAACTGTAC	0.353												
GBX2	2637	broad.mit.edu	37	2	237074648	237074648	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:237074648C>T	uc002vvw.1	-	2	994	c.956G>A	c.(955-957)CGG>CAG	p.R319Q	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	319						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CTTAGGGTTCCGGGAGGGCTC	0.592												
COL6A3	1293	broad.mit.edu	37	2	238277429	238277429	+	Silent	SNP	G	G	A	rs147215386		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:238277429G>A	uc002vwl.2	-	10	4962	c.4677C>T	c.(4675-4677)TTC>TTT	p.F1559F	COL6A3_uc002vwo.2_Silent_p.F1353F|COL6A3_uc010znj.1_Silent_p.F952F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1559	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACCTGGGCGAACCTGGACA	0.572												
ILKAP	80895	broad.mit.edu	37	2	239102960	239102960	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:239102960G>T	uc002vxv.2	-	3	264	c.134C>A	c.(133-135)CCT>CAT	p.P45H	ILKAP_uc010zns.1_5'UTR|ILKAP_uc002vxw.2_5'UTR|ILKAP_uc010znt.1_5'UTR	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	45						cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		AAAAAGCAAAGGTCCCCCTGA	0.433												
GPC1	2817	broad.mit.edu	37	2	241404611	241404611	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:241404611G>A	uc002vyw.3	+	7	1473	c.1252G>A	c.(1252-1254)GGG>AGG	p.G418R		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	418					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(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;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CTGCTGGAACGGGATGGCCAG	0.667												
FARP2	9855	broad.mit.edu	37	2	242432735	242432735	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:242432735C>T	uc002wbi.1	+	26	3040	c.2923C>T	c.(2923-2925)CTG>TTG	p.L975L		NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	975	PH 2.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CAGCCTCCCGCTGCTGGGCTA	0.582												
D2HGDH	728294	broad.mit.edu	37	2	242681982	242681982	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:242681982C>T	uc002wce.1	+	4	656	c.483C>T	c.(481-483)AGC>AGT	p.S161S	D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Silent_p.S27S|D2HGDH_uc002wcg.1_RNA	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	161	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCTTCCACAGCGTGTCTGGTA	0.637												
ANGPT4	51378	broad.mit.edu	37	20	860413	860413	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:860413G>A	uc002wei.2	-	6	1133	c.1030C>T	c.(1030-1032)CGG>TGG	p.R344W	ANGPT4_uc010zpn.1_Missense_Mutation_p.R338W	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	344	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						TTCCAGTTCCGCTGAAAATTC	0.612												
MAVS	57506	broad.mit.edu	37	20	3845148	3845148	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:3845148G>A	uc002wjw.3	+	6	1040	c.871G>A	c.(871-873)GCC>ACC	p.A291T	MAVS_uc002wjx.3_Missense_Mutation_p.A150T|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	291	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						AGAGGCACCTGCCAACTCTCT	0.607												
DTD1	92675	broad.mit.edu	37	20	18724832	18724832	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:18724832G>A	uc002wrf.3	+	5	727	c.566G>A	c.(565-567)CGA>CAA	p.R189Q		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	189					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			ovary(2)	2						AACACTCCCCGAAAAGAAGAC	0.517												
CST7	8530	broad.mit.edu	37	20	24930099	24930099	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:24930099C>T	uc002wtx.1	+	1	234	c.24C>T	c.(22-24)CAC>CAT	p.H8H		NM_003650	NP_003641	O76096	CYTF_HUMAN	cystatin F	Error:Variant_position_missing_in_O76096_after_alignment					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1						AGGCACTGCACGGCCACCCCC	0.677												
XKR7	343702	broad.mit.edu	37	20	30584330	30584330	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:30584330C>T	uc002wxe.2	+	3	984	c.810C>T	c.(808-810)CTC>CTT	p.L270L		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	270	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCCTCCCTCGTGTCTCTGG	0.711												
BPIL1	80341	broad.mit.edu	37	20	31604906	31604906	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:31604906T>G	uc002wyj.2	+	7	769	c.575T>G	c.(574-576)ATT>AGT	p.I192S		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	192						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						GGCACCTTAATTGGTAAGATC	0.617												
BPIL1	80341	broad.mit.edu	37	20	31609117	31609117	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:31609117G>A	uc002wyj.2	+	14	1419	c.1225G>A	c.(1225-1227)GTT>ATT	p.V409I		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	409						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						GATGGGCACCGTTTTTGAGAA	0.587												
NCOA6	23054	broad.mit.edu	37	20	33330514	33330514	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:33330514C>T	uc002xav.2	-	12	6117	c.3546G>A	c.(3544-3546)CAG>CAA	p.Q1182Q	NCOA6_uc002xaw.2_Silent_p.Q1182Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1182	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						CAGGGGGTTGCTGGGGAGTTG	0.537												
TGM2	7052	broad.mit.edu	37	20	36766704	36766704	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:36766704G>A	uc002xhr.2	-	10	1526	c.1426C>T	c.(1426-1428)CGG>TGG	p.R476W	TGM2_uc010zvx.1_Missense_Mutation_p.R395W|TGM2_uc010zvy.1_Missense_Mutation_p.R416W|TGM2_uc002xhs.1_Missense_Mutation_p.R452W|TGM2_uc002xht.2_Missense_Mutation_p.R476W	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	476					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACACGGATCCGCATGGCCATC	0.587												
RALGAPB	57148	broad.mit.edu	37	20	37121578	37121578	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:37121578A>G	uc002xiw.2	+	3	449	c.192A>G	c.(190-192)AAA>AAG	p.K64K	RALGAPB_uc010zvz.1_Silent_p.K64K|RALGAPB_uc002xix.2_Silent_p.K64K|RALGAPB_uc002xiy.1_Silent_p.K64K|RALGAPB_uc002xiz.2_5'UTR	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	64					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						TCTAGGTAAAATGGACCATGG	0.343												
ACOT8	10005	broad.mit.edu	37	20	44472189	44472189	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:44472189T>C	uc002xqa.1	-	5	899	c.818A>G	c.(817-819)TAT>TGT	p.Y273C	ACOT8_uc010zxe.1_3'UTR|ACOT8_uc002xqc.1_3'UTR|ACOT8_uc010zxf.1_Missense_Mutation_p.Y153C	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	273					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTCGCATTCATAGAGCATCCA	0.453												
ACOT8	10005	broad.mit.edu	37	20	44472920	44472920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:44472920G>A	uc002xqa.1	-	4	709	c.628C>T	c.(628-630)CGA>TGA	p.R210*	ACOT8_uc010zxe.1_Nonsense_Mutation_p.R210*|ACOT8_uc002xqc.1_Nonsense_Mutation_p.R157*|ACOT8_uc010zxf.1_Nonsense_Mutation_p.R90*	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	210					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCCGGGCTCGCACCCAGAAC	0.458												
ZMYND8	23613	broad.mit.edu	37	20	45867728	45867728	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:45867728G>A	uc002xta.1	-	15	2633	c.2379C>T	c.(2377-2379)GCC>GCT	p.A793A	ZMYND8_uc010ghq.1_Silent_p.A470A|ZMYND8_uc010ghr.1_Silent_p.A768A|ZMYND8_uc002xst.1_Silent_p.A721A|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Silent_p.A721A|ZMYND8_uc002xsw.1_Silent_p.A545A|ZMYND8_uc002xsx.1_Silent_p.A545A|ZMYND8_uc002xsy.1_Silent_p.A768A|ZMYND8_uc002xsz.1_Silent_p.A730A|ZMYND8_uc010zxy.1_Silent_p.A820A|ZMYND8_uc002xtb.1_Silent_p.A813A|ZMYND8_uc002xss.2_Silent_p.A793A|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Silent_p.A813A|ZMYND8_uc002xtd.1_Silent_p.A788A|ZMYND8_uc002xte.1_Silent_p.A793A|ZMYND8_uc010zya.1_Silent_p.A793A|ZMYND8_uc002xtf.1_Silent_p.A813A|ZMYND8_uc002xtg.2_Silent_p.A787A|ZMYND8_uc010ghs.1_Silent_p.A787A|ZMYND8_uc002xsr.1_5'UTR	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	793							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTCCTGTGGCGGCGGGGGCCG	0.652												
ZMYND8	23613	broad.mit.edu	37	20	45878153	45878153	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:45878153T>A	uc002xta.1	-	13	1846	c.1592A>T	c.(1591-1593)GAG>GTG	p.E531V	ZMYND8_uc010ghq.1_Missense_Mutation_p.E208V|ZMYND8_uc010ghr.1_Missense_Mutation_p.E506V|ZMYND8_uc002xst.1_Missense_Mutation_p.E459V|ZMYND8_uc002xsu.1_Missense_Mutation_p.E531V|ZMYND8_uc002xsv.1_Missense_Mutation_p.E459V|ZMYND8_uc002xsw.1_Missense_Mutation_p.E283V|ZMYND8_uc002xsx.1_Missense_Mutation_p.E283V|ZMYND8_uc002xsy.1_Missense_Mutation_p.E506V|ZMYND8_uc002xsz.1_Missense_Mutation_p.E468V|ZMYND8_uc010zxy.1_Missense_Mutation_p.E558V|ZMYND8_uc002xtb.1_Missense_Mutation_p.E551V|ZMYND8_uc002xss.2_Missense_Mutation_p.E531V|ZMYND8_uc010zxz.1_Missense_Mutation_p.E526V|ZMYND8_uc002xtc.1_Missense_Mutation_p.E551V|ZMYND8_uc002xtd.1_Missense_Mutation_p.E526V|ZMYND8_uc002xte.1_Missense_Mutation_p.E531V|ZMYND8_uc010zya.1_Missense_Mutation_p.E531V|ZMYND8_uc002xtf.1_Missense_Mutation_p.E551V|ZMYND8_uc002xtg.2_Missense_Mutation_p.E525V|ZMYND8_uc010ghs.1_Missense_Mutation_p.E525V	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	531							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTCGCTCAGCTCCTTCAAATC	0.517												
ARFGEF2	10564	broad.mit.edu	37	20	47567921	47567921	+	Missense_Mutation	SNP	G	G	A	rs143956045		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:47567921G>A	uc002xtx.3	+	4	490	c.338G>A	c.(337-339)CGG>CAG	p.R113Q		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	113					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)			CCTGGGAAGCGGCTGATCGAC	0.453												
MOCS3	27304	broad.mit.edu	37	20	49575760	49575760	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:49575760G>A	uc002xvy.1	+	1	398	c.381G>A	c.(379-381)CTG>CTA	p.L127L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	127					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						GCCAAGTGCTGCATGGCGAGG	0.667												
KCNG1	3755	broad.mit.edu	37	20	49620977	49620977	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:49620977G>A	uc002xwa.3	-	3	1436	c.1141C>T	c.(1141-1143)CTG>TTG	p.L381L		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	381	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						AGGAAGAGCAGCAGGAGCCCG	0.692												
KCNG1	3755	broad.mit.edu	37	20	49626813	49626813	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:49626813G>A	uc002xwa.3	-	2	358	c.63C>T	c.(61-63)GAC>GAT	p.D21D	KCNG1_uc002xwb.2_Silent_p.D21D	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	21	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						GGAAGGAGGCGTCCGAGGTGC	0.672												
MC3R	4159	broad.mit.edu	37	20	54824427	54824427	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:54824427C>T	uc002xxb.2	+	1	640	c.528C>T	c.(526-528)GGC>GGT	p.G176G		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	213	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			GCGTCTGTGGCGTGGTGTTCA	0.562												
C20orf106	200232	broad.mit.edu	37	20	55100860	55100860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:55100860G>T	uc002xxx.2	+	2	330	c.250G>T	c.(250-252)GAG>TAG	p.E84*	GCNT7_uc010zzg.1_5'UTR|C20orf107_uc010zzh.1_Intron	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	hypothetical protein LOC200232 precursor	84	Cytoplasmic (Potential).					integral to membrane					0			Colorectal(105;0.202)			TTCCTGACAGGAGCAGAGTCC	0.338												
PPP1R3D	5509	broad.mit.edu	37	20	58514195	58514195	+	Silent	SNP	G	G	A	rs146169621		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:58514195G>A	uc002ybb.2	-	1	1158	c.792C>T	c.(790-792)GCC>GCT	p.A264A	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	264	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CCCAGTACTCGGCACCCGCCA	0.632												
COL9A3	1299	broad.mit.edu	37	20	61458159	61458159	+	Missense_Mutation	SNP	C	C	T	rs147134081	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:61458159C>T	uc002ydm.2	+	15	782	c.779C>T	c.(778-780)GCG>GTG	p.A260V		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	260	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					ATCCCAGGAGCGCCTGGGAAA	0.672												
KCNQ2	3785	broad.mit.edu	37	20	62046407	62046407	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:62046407C>T	uc002yey.1	-	13	1551	c.1374G>A	c.(1372-1374)CCG>CCA	p.P458P	KCNQ2_uc002yez.1_Silent_p.P428P|KCNQ2_uc002yfa.1_Silent_p.P440P|KCNQ2_uc002yfb.1_Silent_p.P430P	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	458	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TCTGGGCCTGCGGGGACCCCT	0.672												
ZBTB46	140685	broad.mit.edu	37	20	62421442	62421442	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:62421442G>A	uc002ygv.1	-	2	870	c.669C>T	c.(667-669)TAC>TAT	p.Y223Y	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCAGAGGCCCGTAGCCCACGT	0.587												
UCKL1	54963	broad.mit.edu	37	20	62571762	62571762	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:62571762G>A	uc010gkn.2	-	13	1422	c.1379C>T	c.(1378-1380)GCG>GTG	p.A460V	UCKL1_uc002yhj.2_Missense_Mutation_p.A103V|UCKL1_uc011abm.1_Missense_Mutation_p.A445V|UCKL1_uc011abn.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	460					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CATGGCCGCCGCGCCCGTGGA	0.647												
ZNF512B	57473	broad.mit.edu	37	20	62597958	62597958	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:62597958C>A	uc002yhl.1	-	5	624	c.570G>T	c.(568-570)AAG>AAT	p.K190N		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTCCGATGGGCTTGCTGACCC	0.612												
ADAMTS1	9510	broad.mit.edu	37	21	28212612	28212612	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:28212612C>T	uc002ymf.2	-	5	2103	c.1648G>A	c.(1648-1650)GAC>AAC	p.D550N		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	550	Disintegrin.				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)		TGCTTTCTGTCGGTTTTGTTC	0.433												
ADAMTS5	11096	broad.mit.edu	37	21	28306907	28306907	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:28306907G>A	uc002ymg.2	-	4	2296	c.1567C>T	c.(1567-1569)CGC>TGC	p.R523C		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	523	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TGGCCCTGGCGTACCACAGCA	0.597												
KRTAP27-1	643812	broad.mit.edu	37	21	31709589	31709589	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:31709589G>T	uc002ynx.1	-	1	424	c.398C>A	c.(397-399)CCT>CAT	p.P133H		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	133						intermediate filament				ovary(2)	2						GAGGCTTGCAGGTTGGCAGCT	0.488												
SLC5A3	6526	broad.mit.edu	37	21	35468425	35468425	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:35468425A>G	uc002yto.2	+	2	1440	c.928A>G	c.(928-930)ATG>GTG	p.M310V	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	310	Helical; (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2						GCTCCTGCCAATGTTTATCAT	0.473												
KCNJ6	3763	broad.mit.edu	37	21	39087042	39087042	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:39087042C>T	uc011aej.1	-	3	471	c.418G>A	c.(418-420)GTC>ATC	p.V140I	KCNJ6_uc002ywo.2_Missense_Mutation_p.V140I	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	140					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	AAAGCAGAGACGAACCCGTTG	0.453												
DSCAM	1826	broad.mit.edu	37	21	41450854	41450854	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:41450854G>A	uc002yyq.1	-	26	4923	c.4471C>T	c.(4471-4473)CGC>TGC	p.R1491C	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1491	Extracellular (Potential).|Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCCTCACGCGTGTGGTGTTG	0.587												
ABCG1	9619	broad.mit.edu	37	21	43716452	43716452	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:43716452C>T	uc002zaq.2	+	15	2093	c.1987C>T	c.(1987-1989)CGC>TGC	p.R663C	ABCG1_uc002zan.2_Missense_Mutation_p.R653C|ABCG1_uc002zam.2_Missense_Mutation_p.R629C|ABCG1_uc002zao.2_Missense_Mutation_p.R648C|ABCG1_uc002zap.2_Missense_Mutation_p.R651C|ABCG1_uc002zar.2_Missense_Mutation_p.R662C|ABCG1_uc011aev.1_Missense_Mutation_p.R674C|uc002zau.2_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	663	ABC transmembrane type-2.|Helical; (Potential).				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	CATCTCCCTCCGCCTCATTGC	0.527												
UBASH3A	53347	broad.mit.edu	37	21	43836627	43836627	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:43836627G>A	uc002zbe.2	+	6	780	c.744G>A	c.(742-744)ACG>ACA	p.T248T	UBASH3A_uc002zbf.2_Silent_p.T210T|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.T210T	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	248						cytosol|nucleus				ovary(3)	3						ACCAGAGGACGCTGGAGCAGC	0.597												
TRAPPC10	7109	broad.mit.edu	37	21	45475599	45475599	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:45475599C>A	uc002zea.2	+	5	672	c.503C>A	c.(502-504)CCC>CAC	p.P168H	TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.P168H	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	168					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CTCTCCGACCCCTTGAAGGAC	0.493												
DNMT3L	29947	broad.mit.edu	37	21	45679387	45679387	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:45679387G>T	uc002zeg.1	-	5	761	c.277C>A	c.(277-279)CAA>AAA	p.Q93K	DNMT3L_uc002zeh.1_Missense_Mutation_p.Q93K	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	93	PHD-type; atypical.|ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CAGTAGGATTGGTACCCGTCA	0.602												
COL6A2	1292	broad.mit.edu	37	21	47545859	47545859	+	Silent	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:47545859C>A	uc002zia.1	+	26	2212	c.2130C>A	c.(2128-2130)GCC>GCA	p.A710A	COL6A2_uc002zhy.1_Silent_p.A710A|COL6A2_uc002zhz.1_Silent_p.A710A|COL6A2_uc002zib.1_Silent_p.A116A|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	710	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCAAGTTTGCCTACGACCGCC	0.612												
FTCD	10841	broad.mit.edu	37	21	47570343	47570343	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:47570343C>A	uc002zif.2	-	6	777	c.733G>T	c.(733-735)GCA>TCA	p.A245S	FTCD_uc002zig.2_Missense_Mutation_p.A245S|FTCD_uc002zih.2_Missense_Mutation_p.A245S|FTCD_uc010gqf.2_Missense_Mutation_p.A245S|FTCD_uc010gqg.1_Missense_Mutation_p.A114S	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	245	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GTGTGCAGTGCCGTGACCTCA	0.612												
S100B	6285	broad.mit.edu	37	21	48022217	48022217	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:48022217T>C	uc002zju.1	-	2	223	c.112A>G	c.(112-114)AAC>GAC	p.N38D	S100B_uc002zjv.1_Missense_Mutation_p.N38D	NM_006272	NP_006263	P04271	S100B_HUMAN	S100 calcium-binding protein, beta	38	EF-hand 1.				axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular region|nucleus|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding				0	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)		AGCTCATTGTTGATGAGCTCC	0.448												
GAB4	128954	broad.mit.edu	37	22	17444639	17444639	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:17444639C>T	uc002zlw.2	-	9	1665	c.1557G>A	c.(1555-1557)GCG>GCA	p.A519A		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	519										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGTCCAGGGCCGCGTAGTGGA	0.642												
CECR6	27439	broad.mit.edu	37	22	17601106	17601106	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:17601106C>T	uc002zmb.2	-	1	1108	c.912G>A	c.(910-912)GCG>GCA	p.A304A	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	304	Ala-rich.										0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		ctgccgcggccgcccccaggc	0.478												
BCL2L13	23786	broad.mit.edu	37	22	18210180	18210180	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:18210180C>T	uc002zmw.2	+	7	1556	c.1338C>T	c.(1336-1338)GCC>GCT	p.A446A	BCL2L13_uc002zmx.2_Silent_p.A284A|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Silent_p.A284A|BCL2L13_uc011agk.1_Silent_p.A322A|BCL2L13_uc010gqz.2_Silent_p.A166A|BCL2L13_uc002zmz.2_Silent_p.A284A|BCL2L13_uc002zna.2_Silent_p.A166A	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	446	B; approximate.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		TGTCCCCCGCCGGTGAGATGA	0.612												
CDC45	8318	broad.mit.edu	37	22	19504377	19504377	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:19504377A>G	uc002zpr.2	+	17	1673	c.1597A>G	c.(1597-1599)ACC>GCC	p.T533A	CDC45_uc011aha.1_Missense_Mutation_p.T565A|CDC45_uc002zps.2_Missense_Mutation_p.T534A|CDC45_uc002zpt.2_Missense_Mutation_p.T487A	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	533					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						AGCGGAAAGCACCAGCTCCCG	0.597												
ZDHHC8	29801	broad.mit.edu	37	22	20128528	20128528	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:20128528G>A	uc002zrq.2	+	7	993	c.887G>A	c.(886-888)CGT>CAT	p.R296H	ZDHHC8_uc002zrr.1_Missense_Mutation_p.R296H|ZDHHC8_uc010gsa.2_Missense_Mutation_p.R102H	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	296	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					GGCCTGGGCCGTAGCAAGGTG	0.622												
ZDHHC8	29801	broad.mit.edu	37	22	20130391	20130391	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:20130391C>A	uc002zrq.2	+	10	1344	c.1238C>A	c.(1237-1239)GCC>GAC	p.A413D	ZDHHC8_uc002zrr.1_Missense_Mutation_p.A413D|ZDHHC8_uc010gsa.2_Missense_Mutation_p.A219D	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	413	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CTGCATGCAGCCTACCCGCCA	0.677												
ZNF74	7625	broad.mit.edu	37	22	20760329	20760329	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:20760329G>A	uc010gsm.2	+	6	1218	c.1006G>A	c.(1006-1008)GCC>ACC	p.A336T	ZNF74_uc002zsg.2_Missense_Mutation_p.A265T|ZNF74_uc002zsh.2_Missense_Mutation_p.A336T|ZNF74_uc002zsi.2_Missense_Mutation_p.A265T|ZNF74_uc010gsn.2_Missense_Mutation_p.A265T	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	336	C2H2-type 4.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CAAGTGCAGCGCCTGCGAGAA	0.677												
PPIL2	23759	broad.mit.edu	37	22	22042393	22042393	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:22042393C>T	uc010gtj.1	+	14	1135	c.1019C>T	c.(1018-1020)ACG>ATG	p.T340M	PPIL2_uc002zvh.3_Missense_Mutation_p.T340M|PPIL2_uc002zvi.3_Missense_Mutation_p.T340M|PPIL2_uc002zvg.3_Missense_Mutation_p.T340M|PPIL2_uc011aij.1_Missense_Mutation_p.T319M|PPIL2_uc002zvk.3_Missense_Mutation_p.T86M	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	peptidylprolyl isomerase-like 2 isoform a	340	PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			ovary(2)	2	Colorectal(54;0.105)					GGCACAGGCACGGGTAGGTAC	0.622												
MAPK1	5594	broad.mit.edu	37	22	22162026	22162026	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:22162026G>A	uc002zvn.2	-	2	469	c.229C>T	c.(229-231)CGC>TGC	p.R77C	MAPK1_uc002zvo.2_Missense_Mutation_p.R77C|MAPK1_uc010gtk.1_Missense_Mutation_p.R77C	NM_002745	NP_002736	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	77	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)	TGTCTGAAGCGCAGTAAGATT	0.418												
ZNF280A	129025	broad.mit.edu	37	22	22869780	22869780	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:22869780C>T	uc002zwe.2	-	2	428	c.175G>A	c.(175-177)GTT>ATT	p.V59I	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGTTTGAAACGACTGGTTTT	0.443												
CABIN1	23523	broad.mit.edu	37	22	24463060	24463060	+	Silent	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:24463060G>T	uc002zzi.1	+	16	2287	c.2160G>T	c.(2158-2160)GGG>GGT	p.G720G	CABIN1_uc002zzj.1_Silent_p.G670G|CABIN1_uc002zzl.1_Silent_p.G720G	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	720					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GCACCAGTGGGTTTGACCGGG	0.587												
SGSM1	129049	broad.mit.edu	37	22	25251568	25251568	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:25251568C>T	uc003abg.2	+	8	879	c.722C>T	c.(721-723)GCC>GTC	p.A241V	SGSM1_uc003abh.2_Missense_Mutation_p.A241V|SGSM1_uc010guu.1_Missense_Mutation_p.A241V|SGSM1_uc003abj.2_Missense_Mutation_p.A241V|SGSM1_uc003abi.1_Missense_Mutation_p.A216V|SGSM1_uc003abf.2_Missense_Mutation_p.A241V	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	241						Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						TCCCTCTCTGCCCGCGACTAC	0.562												
CRYBB3	1417	broad.mit.edu	37	22	25601330	25601330	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:25601330G>A	uc003abo.1	+	5	542	c.470_splice	c.e5+1	p.T157_splice		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3						visual perception		protein binding|structural constituent of eye lens				0						TCAACGGGACGTAAGGGACCC	0.527												
MYO18B	84700	broad.mit.edu	37	22	26176142	26176142	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:26176142C>T	uc003abz.1	+	9	2438	c.2188C>T	c.(2188-2190)CGC>TGC	p.R730C	MYO18B_uc003aca.1_Missense_Mutation_p.R611C|MYO18B_uc010guy.1_Missense_Mutation_p.R611C|MYO18B_uc010guz.1_Missense_Mutation_p.R611C|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.R243C	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	730	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CGCTACAGGCCGCATCACAGC	0.647												
ASPHD2	57168	broad.mit.edu	37	22	26839163	26839163	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:26839163G>A	uc003acg.2	+	4	1498	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	367	Lumenal (Potential).				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			ovary(1)	1						TCTTTGCTCCGGGACGATGAG	0.597												
TPST2	8459	broad.mit.edu	37	22	26937081	26937081	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:26937081C>T	uc003acv.2	-	2	684	c.516G>A	c.(514-516)CTG>CTA	p.L172L	TPST2_uc003acw.2_Silent_p.L172L|TPST2_uc003acx.2_Silent_p.L172L|TPST2_uc011akf.1_Silent_p.L172L	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	172	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1						AGTTGGGGAACAGGCGCGACA	0.612												
ASCC2	84164	broad.mit.edu	37	22	30221196	30221196	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:30221196A>C	uc003agr.2	-	4	396	c.291T>G	c.(289-291)TAT>TAG	p.Y97*	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Nonsense_Mutation_p.Y97*|ASCC2_uc011akr.1_Nonsense_Mutation_p.Y44*	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TGCGGGGGACATAGCGCAGGT	0.557												
MTMR3	8897	broad.mit.edu	37	22	30416523	30416523	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:30416523G>A	uc003agv.3	+	17	3203	c.2875G>A	c.(2875-2877)GCC>ACC	p.A959T	MTMR3_uc003agu.3_Missense_Mutation_p.A959T|MTMR3_uc003agw.3_Missense_Mutation_p.A959T	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	959					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGGGCATTGCGCCAATGGGGA	0.577												
GATSL3	652968	broad.mit.edu	37	22	30681648	30681648	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:30681648G>A	uc003ahd.2	-	9	1081	c.951C>T	c.(949-951)ATC>ATT	p.I317I	GATSL3_uc003ahc.2_Silent_p.I279I|GATSL3_uc003ahe.2_Silent_p.I280I|GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Silent_p.I452I	NM_001037666	NP_001032755	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	317										breast(1)	1						GGAGGACCTCGATGACGCTGC	0.677												
MTP18	51537	broad.mit.edu	37	22	30823345	30823345	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:30823345C>T	uc003ahw.1	+	3	531	c.383C>T	c.(382-384)GCG>GTG	p.A128V	SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.A290V|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Intron	NM_016498	NP_057582	Q9UDX5	MTFP1_HUMAN	mitochondrial protein 18 kDa isoform a	128					apoptosis|carbon utilization	integral to membrane|mitochondrial inner membrane	carbonate dehydratase activity|zinc ion binding				0						ACCACCACCGCGCTTGGGCTG	0.597												
TCN2	6948	broad.mit.edu	37	22	31019016	31019016	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:31019016G>A	uc003aip.1	+	8	1326	c.1168G>A	c.(1168-1170)GGA>AGA	p.G390R	TCN2_uc003aiq.1_Missense_Mutation_p.G386R|TCN2_uc003air.1_Missense_Mutation_p.G363R	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	390					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAAGCGGCCGGAGAAAGGGA	0.562												
CSF2RB	1439	broad.mit.edu	37	22	37332682	37332682	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:37332682C>T	uc003aqa.3	+	13	1773	c.1556C>T	c.(1555-1557)CCT>CTT	p.P519L	CSF2RB_uc003aqc.3_Missense_Mutation_p.P525L	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	519	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	AGCCGCTTCCCTGAGCTGGAG	0.637												
SSTR3	6753	broad.mit.edu	37	22	37603572	37603572	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:37603572C>T	uc003ara.2	-	2	333	c.271G>A	c.(271-273)GAG>AAG	p.E91K	SSTR3_uc003arb.2_Missense_Mutation_p.E91K	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	91	Helical; Name=2; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						ATGAAGAGCTCGTCGGCCAGC	0.652												
CARD10	29775	broad.mit.edu	37	22	37912113	37912113	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:37912113C>T	uc003asx.1	-	3	569	c.566G>A	c.(565-567)CGG>CAG	p.R189Q	CARD10_uc003ast.1_RNA|CARD10_uc003asy.1_Missense_Mutation_p.R189Q	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	189	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)					CCAGTCCTCCCGCAGCCGTTG	0.682												
TRIOBP	11078	broad.mit.edu	37	22	38120532	38120532	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:38120532G>A	uc003atr.2	+	7	2240	c.1969G>A	c.(1969-1971)GAT>AAT	p.D657N	TRIOBP_uc003atu.2_Missense_Mutation_p.D485N|TRIOBP_uc003atq.1_Missense_Mutation_p.D657N|TRIOBP_uc003ats.1_Missense_Mutation_p.D485N	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	657					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CCGACGGGACGATCCCAGAGC	0.592												
GALR3	8484	broad.mit.edu	37	22	38220915	38220915	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:38220915G>A	uc003aub.1	+	2	570	c.545G>A	c.(544-546)CGC>CAC	p.R182H		NM_003614	NP_003605	O60755	GALR3_HUMAN	galanin receptor 3	182	Extracellular (Potential).				feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity				0	Melanoma(58;0.045)					GCGCGCCGCCGCGCCCTGGAC	0.746												
SUN2	25777	broad.mit.edu	37	22	39146931	39146931	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:39146931C>T	uc003awh.1	-	5	680	c.396G>A	c.(394-396)TCG>TCA	p.S132S	SUN2_uc011anz.1_Silent_p.S167S|SUN2_uc011aoa.1_Intron|SUN2_uc003awi.1_Silent_p.S132S|SUN2_uc010gxq.1_Silent_p.S132S|SUN2_uc010gxr.1_Silent_p.S132S|SUN2_uc010gxs.1_Silent_p.S132S	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	132	Nuclear.|Ser-rich.|LMNA-binding (By similarity).				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						AGGAGTAGCCCGAGGAAGAGC	0.677												
SUN2	25777	broad.mit.edu	37	22	39148568	39148568	+	Silent	SNP	G	G	A	rs138973782		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:39148568G>A	uc003awh.1	-	3	350	c.66C>T	c.(64-66)AGC>AGT	p.S22S	SUN2_uc011anz.1_Silent_p.S57S|SUN2_uc011aoa.1_Silent_p.S57S|SUN2_uc003awi.1_Silent_p.S22S|SUN2_uc010gxq.1_Silent_p.S22S|SUN2_uc010gxr.1_Silent_p.S22S|SUN2_uc010gxs.1_Silent_p.S22S	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	22	Nuclear.|Ser-rich.|LMNA-binding (By similarity).				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						AGCTCCCTCCGCTGCTGCTGC	0.622												
APOBEC3A	200315	broad.mit.edu	37	22	39357593	39357593	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:39357593G>A	uc003awn.2	+	3	546	c.376G>A	c.(376-378)GCT>ACT	p.A126T	APOBEC3A_uc011aob.1_Missense_Mutation_p.A108T|APOBEC3A_uc011aoc.1_Missense_Mutation_p.A126T	NM_145699	NP_663745	P31941	ABC3A_HUMAN	phorbolin 1	126					cellular response to xenobiotic stimulus|defense response to virus|DNA cytosine deamination|DNA demethylation|innate immune response|negative regulation of transposition|negative regulation of viral genome replication	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)					GCGTATCTTCGCTGCCCGCAT	0.562												
RRP7A	27341	broad.mit.edu	37	22	42914119	42914119	+	Silent	SNP	A	A	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:42914119A>C	uc003bcq.2	-	2	124	c.108T>G	c.(106-108)GCT>GCG	p.A36A	SERHL_uc011apm.1_Intron|RRP7A_uc003bcp.2_5'Flank	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A	36							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2						GGTAGTGAGAAGCCTGTTGCT	0.537												
EFCAB6	64800	broad.mit.edu	37	22	44028099	44028099	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:44028099C>T	uc003bdy.1	-	19	2333	c.2118G>A	c.(2116-2118)CCG>CCA	p.P706P	EFCAB6_uc003bdz.1_Silent_p.P554P|EFCAB6_uc010gzi.1_Silent_p.P554P|EFCAB6_uc010gzj.1_Silent_p.P4P|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				GAGTGGTTTCCGGCCCTCTCA	0.433												
TBC1D22A	25771	broad.mit.edu	37	22	47370253	47370253	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:47370253C>T	uc003bib.2	+	9	1218	c.1083C>T	c.(1081-1083)GCC>GCT	p.A361A	TBC1D22A_uc010haf.2_Silent_p.A331A|TBC1D22A_uc003bic.2_Silent_p.A302A|TBC1D22A_uc003bie.2_Silent_p.A283A|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_Intron|TBC1D22A_uc003bif.2_Silent_p.A314A	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	361	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		ACATCGAGGCCGACACCTACT	0.662												
ZBED4	9889	broad.mit.edu	37	22	50278666	50278666	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:50278666G>T	uc003bix.2	+	2	1826	c.1356G>T	c.(1354-1356)AAG>AAT	p.K452N		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	452						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGAATAAAAAGGTCATGAAAA	0.567												
TTLL8	164714	broad.mit.edu	37	22	50485624	50485624	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:50485624G>A	uc011ark.1	-	4	366	c.366C>T	c.(364-366)TAC>TAT	p.Y122Y		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)		CTGTCTTTGCGTAGTGGTTCA	0.572												
MOV10L1	54456	broad.mit.edu	37	22	50591531	50591531	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:50591531C>T	uc003bjj.2	+	22	3033	c.2950C>T	c.(2950-2952)CGG>TGG	p.R984W	MOV10L1_uc003bjk.3_Missense_Mutation_p.R984W|MOV10L1_uc011arp.1_Missense_Mutation_p.R964W|MOV10L1_uc003bjl.2_Missense_Mutation_p.R111W|MOV10L1_uc003bjm.1_Missense_Mutation_p.R27W	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	984					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCTGCCCTCACGGCTGTTCTA	0.592												
KLHDC7B	113730	broad.mit.edu	37	22	50988085	50988085	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:50988085G>A	uc003bmi.2	+	1	1624	c.1490G>A	c.(1489-1491)CGC>CAC	p.R497H		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	497	Kelch 5.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTCCTGTACCGCTTCGACCTG	0.697												
ITPR1	3708	broad.mit.edu	37	3	4715042	4715042	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:4715042G>A	uc003bqa.2	+	21	2775	c.2427G>A	c.(2425-2427)TCG>TCA	p.S809S	ITPR1_uc010hca.1_Silent_p.S794S|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Silent_p.S794S	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	809	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)		GCCTCTGGTCGGAGATTCCCT	0.547												
TADA3	10474	broad.mit.edu	37	3	9831424	9831424	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:9831424C>T	uc003bsx.1	-	3	979	c.431G>A	c.(430-432)CGG>CAG	p.R144Q	TADA3_uc010hcn.1_Missense_Mutation_p.R144Q|TADA3_uc003bsy.2_Missense_Mutation_p.R144Q|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank|ARPC4_uc003btc.1_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	transcriptional adaptor 3 isoform a	144					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity				0						TTTGGGGATCCGTGGCACGTC	0.592												
PPARG	5468	broad.mit.edu	37	3	12422929	12422929	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:12422929G>A	uc003bwx.2	+	3	510	c.419G>A	c.(418-420)CGT>CAT	p.R140H	PPARG_uc003bwr.2_Missense_Mutation_p.R112H|PPARG_uc003bws.2_Missense_Mutation_p.R112H|PPARG_uc003bwu.2_Missense_Mutation_p.R112H|PPARG_uc003bwv.2_Missense_Mutation_p.R112H|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Missense_Mutation_p.R112H|PPARG_uc003bwt.1_Missense_Mutation_p.R112H|PPARG_uc003bww.1_Missense_Mutation_p.R140H	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	140	Nuclear receptor.|NR C4-type.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	ATTGAATGTCGTGTCTGTGGA	0.398			T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension					
TMEM40	55287	broad.mit.edu	37	3	12778317	12778317	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:12778317C>T	uc003bxg.1	-	9	617	c.490G>A	c.(490-492)GTC>ATC	p.V164I	TMEM40_uc003bxh.1_Missense_Mutation_p.V134I|TMEM40_uc003bxi.1_Missense_Mutation_p.V88I|TMEM40_uc011auv.1_Missense_Mutation_p.V180I	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	164	Helical; (Potential).					integral to membrane					0						CACAGGAGGACGAAATGGAAA	0.433												
GRIP2	80852	broad.mit.edu	37	3	14564512	14564512	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:14564512G>A	uc011avi.1	-	7	852	c.852C>T	c.(850-852)GCC>GCT	p.A284A	GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	187	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						CTCACCTGTCGGCAGGGCCAC	0.458												
FGD5	152273	broad.mit.edu	37	3	14862390	14862390	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:14862390C>T	uc003bzc.2	+	1	1922	c.1812C>T	c.(1810-1812)AGC>AGT	p.S604S	FGD5_uc011avk.1_Silent_p.S604S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	604					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						TTCCGTCCAGCGGCACCTCCA	0.542												
FGD5	152273	broad.mit.edu	37	3	14941914	14941914	+	Silent	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:14941914T>C	uc003bzc.2	+	8	3269	c.3159T>C	c.(3157-3159)TAT>TAC	p.Y1053Y	FGD5_uc011avk.1_Silent_p.Y1053Y|FGD5_uc003bzd.2_Silent_p.Y131Y	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1053	DH.				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						CAACAGACTATTTAAACAACC	0.567												
HACL1	26061	broad.mit.edu	37	3	15604925	15604925	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:15604925G>A	uc003caf.2	-	16	1804	c.1644C>T	c.(1642-1644)GAC>GAT	p.D548D	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Silent_p.D521D|HACL1_uc011avt.1_Silent_p.D488D|HACL1_uc003cag.2_Silent_p.D192D|HACL1_uc011avu.1_Silent_p.D466D|HACL1_uc010hep.2_Silent_p.D307D	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	548					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						GTTTAGTTGTGTCTGCTAGGC	0.433												
TBC1D5	9779	broad.mit.edu	37	3	17550029	17550029	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:17550029G>A	uc003cbf.2	-	3	1699	c.34C>T	c.(34-36)CTG>TTG	p.L12L	TBC1D5_uc010hev.2_Silent_p.L12L|TBC1D5_uc003cbe.2_Silent_p.L12L	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	12						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TCTGGCTGCAGAGGATGTCTA	0.408												
OXSM	54995	broad.mit.edu	37	3	25833299	25833299	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:25833299C>A	uc003cdn.2	+	2	895	c.788C>A	c.(787-789)GCA>GAA	p.A263E	NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Intron	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	263					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			ovary(1)|breast(1)	2						CCCAAGTTGGCATGTCGACCA	0.483												
CMTM8	152189	broad.mit.edu	37	3	32409430	32409430	+	Missense_Mutation	SNP	G	G	A	rs149787700		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:32409430G>A	uc003cex.2	+	3	682	c.388G>A	c.(388-390)GTC>ATC	p.V130I	CMTM8_uc010hfu.2_Missense_Mutation_p.V72I	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing	130	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						TGCATCTTCCGTCTCCCCTGA	0.582												
TRIM71	131405	broad.mit.edu	37	3	32860361	32860361	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:32860361G>A	uc003cff.2	+	1	852	c.789G>A	c.(787-789)CCG>CCA	p.P263P		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	263					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						TTCCCGGCCCGCCCTTCTCCA	0.697												
PDCD6IP	10015	broad.mit.edu	37	3	33866819	33866819	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:33866819A>T	uc003cfx.2	+	5	758	c.603A>T	c.(601-603)TTA>TTT	p.L201F	PDCD6IP_uc011axv.1_Missense_Mutation_p.L201F|PDCD6IP_uc003cfy.2_Missense_Mutation_p.L201F	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	201	Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						TATTTTTTTTAAAAGCCACAA	0.358												
CTDSPL	10217	broad.mit.edu	37	3	38017361	38017361	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:38017361A>G	uc003chg.2	+	7	703	c.681A>G	c.(679-681)TCA>TCG	p.S227S	CTDSPL_uc003chh.2_Silent_p.S216S|CTDSPL_uc003chi.2_RNA	NM_001008392	NP_001008393	O15194	CTDSL_HUMAN	small CTD phosphatase 3 isoform 1	227	FCP1 homology.					nucleus	metal ion binding|phosphoprotein phosphatase activity				0		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		CCCCTGCCTCATACATCTTCC	0.498												
ACVR2B	93	broad.mit.edu	37	3	38524050	38524050	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:38524050C>T	uc003cif.2	+	10	1367	c.1343C>T	c.(1342-1344)CCG>CTG	p.P448L	ACVR2B_uc003cig.2_Missense_Mutation_p.P239L	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	448	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		TTGAAACACCCGGTAAGGGGC	0.537												
SCN5A	6331	broad.mit.edu	37	3	38592162	38592162	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:38592162C>T	uc003cio.2	-	28	5895	c.5701G>A	c.(5701-5703)GAA>AAA	p.E1901K	SCN5A_uc003cin.2_Missense_Mutation_p.E1900K|SCN5A_uc003cil.3_Missense_Mutation_p.E1901K|SCN5A_uc010hhi.2_Missense_Mutation_p.E1883K|SCN5A_uc010hhk.2_Missense_Mutation_p.E1868K|SCN5A_uc011ayr.1_Missense_Mutation_p.E1847K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1901	IQ.				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GACACCTCTTCGTGCTTGCGC	0.592												
SEC22C	9117	broad.mit.edu	37	3	42605166	42605166	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:42605166G>A	uc003clj.2	-	3	313	c.195C>T	c.(193-195)TTC>TTT	p.F65F	SEC22C_uc003clh.2_Silent_p.F65F|SEC22C_uc011azo.1_5'UTR|SEC22C_uc010hic.2_Silent_p.F65F|SEC22C_uc003cli.2_Silent_p.F65F	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C	65	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CCACGTCCCCGAAAGAAGAAA	0.512												
ZNF445	353274	broad.mit.edu	37	3	44489494	44489494	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:44489494G>A	uc003cnf.2	-	8	2017	c.1669C>T	c.(1669-1671)CGT>TGT	p.R557C	ZNF445_uc011azv.1_Missense_Mutation_p.R545C|ZNF445_uc011azw.1_Missense_Mutation_p.R557C	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	557	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CGGTGCAGACGGTAGGCTGAC	0.463												
ZNF502	91392	broad.mit.edu	37	3	44763579	44763579	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:44763579C>T	uc011baa.1	+	4	1525	c.1270C>T	c.(1270-1272)CGG>TGG	p.R424W	ZNF502_uc003cns.2_Missense_Mutation_p.R424W|ZNF502_uc011bab.1_Missense_Mutation_p.R424W|ZNF502_uc003cnt.2_Missense_Mutation_p.R424W	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	424	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TTGCCTTATTCGGCACCAGAG	0.438												
KIAA1143	57456	broad.mit.edu	37	3	44794850	44794850	+	Missense_Mutation	SNP	C	C	T	rs144499231		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:44794850C>T	uc011bac.1	-	3	527	c.448G>A	c.(448-450)GAA>AAA	p.E150K		NM_020696	NP_065747	Q96AT1	K1143_HUMAN	hypothetical protein LOC57456	150											0				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TTTTCATCTTCGTTGTCAAAA	0.259												
TGM4	7047	broad.mit.edu	37	3	44952776	44952776	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:44952776C>T	uc003coc.3	+	13	1864	c.1791C>T	c.(1789-1791)GGC>GGT	p.G597G		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	597					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTAACACAGGCAGAATTGGCC	0.522												
CCR1	1230	broad.mit.edu	37	3	46245704	46245704	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:46245704G>A	uc003cph.1	-	2	172	c.101C>T	c.(100-102)GCC>GTC	p.A34V	CCR3_uc003cpg.1_Intron	NM_001295	NP_001286	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	34	Extracellular (Potential).				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			skin(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAGCAGTTGGGCCCCAAAGGC	0.517												
PLXNB1	5364	broad.mit.edu	37	3	48459458	48459458	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:48459458G>A	uc003csw.2	-	16	3506	c.3236C>T	c.(3235-3237)ACT>ATT	p.T1079I	PLXNB1_uc003csu.2_Missense_Mutation_p.T896I|PLXNB1_uc003csx.2_Missense_Mutation_p.T1079I|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_5'Flank	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1079	IPT/TIG 1.|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)		TACAGGCCCAGTCAGTGGCTC	0.632												
CELSR3	1951	broad.mit.edu	37	3	48696614	48696614	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:48696614G>A	uc003cul.2	-	1	3735	c.3454C>T	c.(3454-3456)CGG>TGG	p.R1152W	CELSR3_uc003cuf.1_Missense_Mutation_p.R1222W	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1152	Extracellular (Potential).|Cadherin 8.				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)		ACAGTGGCCCGGCTGACCAAA	0.517												
P4HTM	54681	broad.mit.edu	37	3	49042450	49042450	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49042450C>T	uc003cvg.2	+	6	1393	c.1044C>T	c.(1042-1044)AAC>AAT	p.N348N	P4HTM_uc003cvh.2_Silent_p.N348N|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	348	Lumenal (Potential).|Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	TGGTAGCCAACGAGTCTGTAC	0.587												
QRICH1	54870	broad.mit.edu	37	3	49083909	49083909	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49083909A>G	uc010hkq.2	-	6	1916	c.1620T>C	c.(1618-1620)GGT>GGC	p.G540G	QRICH1_uc003cvu.2_Silent_p.G540G|QRICH1_uc003cvv.2_Silent_p.G540G	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	540										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATAGGGTTCACCTTCTCCAT	0.453												
USP4	7375	broad.mit.edu	37	3	49318216	49318216	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49318216C>T	uc003cwq.2	-	20	2684	c.2605G>A	c.(2605-2607)GCC>ACC	p.A869T	USP4_uc003cwo.2_Missense_Mutation_p.A581T|USP4_uc003cwp.2_Missense_Mutation_p.A599T|USP4_uc003cwr.2_Missense_Mutation_p.A822T	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	869					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTGGACACGGCAATGAGGTCG	0.453												
BSN	8927	broad.mit.edu	37	3	49694655	49694655	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49694655C>T	uc003cxe.3	+	5	7780	c.7666C>T	c.(7666-7668)CGG>TGG	p.R2556W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2556					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)		CATCAAGAAGCGGCACTCCAT	0.627												
GMPPB	29925	broad.mit.edu	37	3	49759471	49759471	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49759471C>T	uc003cxk.1	-	8	1103	c.878G>A	c.(877-879)CGG>CAG	p.R293Q	AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.R293Q	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	293					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				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGGGCATCCCGCAGCACCGT	0.662												
IP6K1	9807	broad.mit.edu	37	3	49775735	49775735	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49775735C>T	uc003cxm.1	-	3	659	c.344G>A	c.(343-345)CGC>CAC	p.R115H	IP6K1_uc003cxn.1_5'UTR|IP6K1_uc011bcv.1_5'UTR|IP6K1_uc003cxo.2_Missense_Mutation_p.R115H	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	115					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GGAGTGTTTGCGCCGAGGTTG	0.557												
TRAIP	10293	broad.mit.edu	37	3	49869390	49869390	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49869390G>A	uc003cxs.1	-	11	1102	c.996C>T	c.(994-996)TCC>TCT	p.S332S	TRAIP_uc010hla.1_Silent_p.S233S	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	332	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AACCATGCTGGGAGCTGGAGG	0.532												
HYAL2	8692	broad.mit.edu	37	3	50357136	50357136	+	Missense_Mutation	SNP	C	C	T	rs1050074		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:50357136C>T	uc003czu.2	-	2	1005	c.785G>A	c.(784-786)CGC>CAC	p.R262H	HYAL2_uc003czx.2_Missense_Mutation_p.R262H|HYAL2_uc003czv.2_Missense_Mutation_p.R262H|HYAL2_uc003czw.2_Missense_Mutation_p.R262H|HYAL2_uc010hlj.2_Missense_Mutation_p.R262H	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	262				SR -> AL (in Ref. 1; CAA03924).		anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	GCGGCCATGGCGGGAGGAAGC	0.612												
RASSF1	11186	broad.mit.edu	37	3	50369082	50369082	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:50369082C>T	uc003dad.1	-	4	811	c.680G>A	c.(679-681)CGT>CAT	p.R227H	RASSF1_uc003daa.1_Missense_Mutation_p.R72H|RASSF1_uc003dab.1_Missense_Mutation_p.R153H|RASSF1_uc003dac.2_Missense_Mutation_p.R72H|RASSF1_uc003dae.1_Missense_Mutation_p.R223H|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.R72H	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN	Ras association domain family 1 isoform D	227	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AATGACTTCACGTGCCCTTGT	0.607												
GRM2	2912	broad.mit.edu	37	3	51749692	51749692	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:51749692C>T	uc010hlv.2	+	4	2142	c.1903C>T	c.(1903-1905)CGG>TGG	p.R635W	GRM2_uc003dbo.3_Missense_Mutation_p.R17W|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	635	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GTGTACCTTACGGCGTCTTGG	0.587												
IQCF1	132141	broad.mit.edu	37	3	51929174	51929174	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:51929174G>A	uc003dbv.2	-	4	448	c.350C>T	c.(349-351)GCG>GTG	p.A117V	IQCF1_uc003dbq.3_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	117										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCCTCTAGCGCTGCCTGCCG	0.617												
DNAH1	25981	broad.mit.edu	37	3	52430481	52430481	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:52430481C>T	uc011bef.1	+	71	11618	c.11357C>T	c.(11356-11358)CCA>CTA	p.P3786L	DNAH1_uc003ddv.2_Missense_Mutation_p.P644L	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3851	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATTGAGCCGCCACGCGGTGTC	0.587												
STAB1	23166	broad.mit.edu	37	3	52552861	52552861	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:52552861C>T	uc003dej.2	+	48	5084	c.5010C>T	c.(5008-5010)CAC>CAT	p.H1670H	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1670	Extracellular (Potential).|FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTCAGGGCACCCACTGCGCT	0.562												
LRTM1	57408	broad.mit.edu	37	3	54961972	54961972	+	Translation_Start_Site	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:54961972G>A	uc003dhl.2	-	1	101	c.-33C>T	c.(-35--31)TACGA>TATGA		CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1							integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TGCTGACCTCGTAGACCCTTT	0.493												
SUCLG2	8801	broad.mit.edu	37	3	67548713	67548713	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:67548713C>T	uc003dna.3	-	8	792	c.764G>A	c.(763-765)TGT>TAT	p.C255Y	SUCLG2_uc010hob.2_Intron	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	255	ATP-grasp.				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)	GGCATCAAAACAGACAACTAA	0.353												
DZIP3	9666	broad.mit.edu	37	3	108409725	108409725	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:108409725G>A	uc003dxd.2	+	32	4030	c.3608G>A	c.(3607-3609)CGG>CAG	p.R1203Q	DZIP3_uc003dxf.1_Missense_Mutation_p.R1203Q|DZIP3_uc011bhm.1_Missense_Mutation_p.R654Q	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	1203					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CACCCCAGCCGGCAGTTGCCC	0.478												
BOC	91653	broad.mit.edu	37	3	112998721	112998721	+	Missense_Mutation	SNP	G	G	A	rs141457641		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:112998721G>A	uc003dzx.2	+	13	2692	c.2071G>A	c.(2071-2073)GAG>AAG	p.E691K	BOC_uc003dzy.2_Missense_Mutation_p.E691K|BOC_uc003dzz.2_Missense_Mutation_p.E692K|BOC_uc003eab.2_Missense_Mutation_p.E392K|BOC_uc003eac.2_Missense_Mutation_p.E6K	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	691	Fibronectin type-III 2.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GGGGGAGAGCGAGCCCAGCGC	0.612												
ZBTB20	26137	broad.mit.edu	37	3	114069726	114069726	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:114069726C>T	uc003ebi.2	-	4	1379	c.1199G>A	c.(1198-1200)CGG>CAG	p.R400Q	ZBTB20_uc003ebj.2_Missense_Mutation_p.R327Q|ZBTB20_uc010hqp.2_Missense_Mutation_p.R327Q|ZBTB20_uc003ebk.2_Missense_Mutation_p.R327Q|ZBTB20_uc003ebl.2_Missense_Mutation_p.R327Q|ZBTB20_uc003ebm.2_Missense_Mutation_p.R327Q|ZBTB20_uc003ebn.2_Missense_Mutation_p.R327Q|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	400					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)		CTGGCTGTCCCGCGCCGCCCC	0.647												
CD80	941	broad.mit.edu	37	3	119276481	119276481	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:119276481C>G	uc003ecq.2	-	2	490	c.95G>C	c.(94-96)TGT>TCT	p.C32S	CD80_uc010hqt.1_Missense_Mutation_p.C32S|CD80_uc010hqu.1_Missense_Mutation_p.C32S|CD80_uc003ecr.1_Missense_Mutation_p.C32S	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	32					interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2					Abatacept(DB01281)	CTTACCTGAACAGAAGTGAGA	0.478												
PARP9	83666	broad.mit.edu	37	3	122247435	122247435	+	Missense_Mutation	SNP	G	G	A	rs147481687	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:122247435G>A	uc010hri.2	-	11	2486	c.2341C>T	c.(2341-2343)CCC>TCC	p.P781S	PARP9_uc003eff.3_Missense_Mutation_p.P746S|PARP9_uc011bjs.1_Missense_Mutation_p.P746S|PARP9_uc003efg.2_Missense_Mutation_p.P326S|PARP9_uc003efi.2_Missense_Mutation_p.P746S|PARP9_uc003efh.2_Missense_Mutation_p.P781S	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	781	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)		AGTGGTGGGGGAACAATATTT	0.463												
KALRN	8997	broad.mit.edu	37	3	124165071	124165071	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:124165071G>A	uc003ehg.2	+	20	3498	c.3371G>A	c.(3370-3372)CGG>CAG	p.R1124Q	KALRN_uc010hrv.1_Missense_Mutation_p.R1115Q|KALRN_uc003ehf.1_Missense_Mutation_p.R1124Q|KALRN_uc011bjy.1_Missense_Mutation_p.R1115Q|KALRN_uc003ehh.1_Missense_Mutation_p.R470Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1124					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						TTGAAGAAGCGGCGGTTAGAC	0.552												
KALRN	8997	broad.mit.edu	37	3	124281775	124281775	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:124281775C>T	uc003ehg.2	+	34	5142	c.5015C>T	c.(5014-5016)ACG>ATG	p.T1672M	KALRN_uc003ehi.2_Missense_Mutation_p.T45M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1672	SH3 1.				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						GTGGGGCAGACGGTAGAGCTG	0.662												
HEG1	57493	broad.mit.edu	37	3	124748138	124748138	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:124748138C>T	uc003ehs.3	-	2	579	c.511G>A	c.(511-513)GGA>AGA	p.G171R	HEG1_uc011bke.1_Missense_Mutation_p.G171R	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	171	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						CCGCTCCTTCCTCTAGCATCT	0.512												
HEG1	57493	broad.mit.edu	37	3	124748159	124748159	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:124748159C>T	uc003ehs.3	-	2	558	c.490G>A	c.(490-492)GCT>ACT	p.A164T	HEG1_uc011bke.1_Missense_Mutation_p.A164T	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	164	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GCTGTTTCAGCGAGTAGAGTG	0.502												
C3orf22	152065	broad.mit.edu	37	3	126268880	126268880	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:126268880G>A	uc003ejb.2	-	4	586	c.257C>T	c.(256-258)CCG>CTG	p.P86L		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	hypothetical protein LOC152065	86											0				GBM - Glioblastoma multiforme(114;0.147)		TAGTGGTGCCGGGCAGGAGCC	0.607												
TPRA1	131601	broad.mit.edu	37	3	127294606	127294606	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:127294606C>T	uc003ejl.2	-	7	947	c.656G>A	c.(655-657)CGC>CAC	p.R219H	TPRA1_uc003ejm.2_Intron|TPRA1_uc003ejo.2_Missense_Mutation_p.R219H|TPRA1_uc010hsk.2_Intron|TPRA1_uc003ejn.2_Missense_Mutation_p.R219H	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN	G protein-coupled receptor 175 isoform 1	219					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity				0						CAGGGAGATGCGCTCCTTCAG	0.652												
ASTE1	28990	broad.mit.edu	37	3	130743390	130743390	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:130743390T>C	uc003env.1	-	3	1203	c.761A>G	c.(760-762)CAC>CGC	p.H254R	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.H254R|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	254					DNA repair		nuclease activity				0						CAGGATTCGGTGGTGTCTCCT	0.433												
MSL2	55167	broad.mit.edu	37	3	135870296	135870296	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:135870296C>T	uc003eqx.1	-	2	2160	c.1427G>A	c.(1426-1428)TGC>TAC	p.C476Y	MSL2_uc011bmb.1_Missense_Mutation_p.C402Y	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	476					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TTGGCCTCGGCATGTAAGAAC	0.473												
TXNDC6	347736	broad.mit.edu	37	3	138038392	138038392	+	Silent	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:138038392G>T	uc003esg.2	-	3	151	c.123C>A	c.(121-123)CCC>CCA	p.P41P	TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Silent_p.P19P|TXNDC6_uc003ese.1_Silent_p.P19P	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	thioredoxin domain containing 6	41	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			breast(3)|ovary(1)|pancreas(1)	5						CAGGTTTGCAGGGGCCACACC	0.498												
PCOLCE2	26577	broad.mit.edu	37	3	142539759	142539759	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:142539759G>A	uc003evd.2	-	8	1274	c.1078C>T	c.(1078-1080)CTG>TTG	p.L360L		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	360	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						ACGACAGTCAGCCTGGCACTC	0.532												
ZIC1	7545	broad.mit.edu	37	3	147128515	147128515	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:147128515G>A	uc003ewe.2	+	1	1335	c.616G>A	c.(616-618)GCG>ACG	p.A206T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	206					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						GAACATGGCCGCGCATCACGG	0.662												
OTOL1	131149	broad.mit.edu	37	3	161214699	161214699	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:161214699C>A	uc011bpb.1	+	1	104	c.104C>A	c.(103-105)TCT>TAT	p.S35Y		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	otolin-1 precursor	35						collagen					0						ACGAAGAAATCTGAGGAAAGA	0.418												
PRKCI	5584	broad.mit.edu	37	3	169999697	169999697	+	Silent	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:169999697T>C	uc003fgs.2	+	11	1246	c.1008T>C	c.(1006-1008)AAT>AAC	p.N336N		NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	336	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			lung(2)|ovary(1)|breast(1)|skin(1)	5	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)			AGTATGTAAATGGAGGAGACC	0.358												
SLC7A14	57709	broad.mit.edu	37	3	170204021	170204021	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:170204021G>A	uc003fgz.2	-	5	1212	c.896C>T	c.(895-897)GCA>GTA	p.A299V	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	299	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGACACATATGCTGTCAGGCA	0.537												
NLGN1	22871	broad.mit.edu	37	3	173322839	173322839	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:173322839G>A	uc003fio.1	+	3	874	c.451G>A	c.(451-453)GAA>AAA	p.E151K	NLGN1_uc010hww.1_Missense_Mutation_p.E151K|NLGN1_uc003fip.1_Missense_Mutation_p.E151K	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	151	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGACCAGAGCGAAGACTGCCT	0.368												
MCF2L2	23101	broad.mit.edu	37	3	183059378	183059378	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:183059378T>C	uc003fli.1	-	4	406	c.316A>G	c.(316-318)AGA>GGA	p.R106G	MCF2L2_uc003flj.1_Missense_Mutation_p.R106G|MCF2L2_uc003flp.1_Missense_Mutation_p.R141G	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	106	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCTCTTCGTCTGTCGATAACA	0.418												
ABCC5	10057	broad.mit.edu	37	3	183705643	183705643	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:183705643C>A	uc003fmg.2	-	5	671	c.506G>T	c.(505-507)AGG>ATG	p.R169M	ABCC5_uc011bqt.1_Translation_Start_Site|ABCC5_uc010hxl.2_Missense_Mutation_p.R169M|ABCC5_uc003fmh.2_Missense_Mutation_p.R169M|ABCC5_uc010hxm.2_RNA|ABCC5_uc010hxn.2_Missense_Mutation_p.R169M|ABCC5_uc010hxo.2_Missense_Mutation_p.R169M	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	169						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACACAACCCTTCGCAGGGA	0.542												
CHRD	8646	broad.mit.edu	37	3	184104636	184104636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:184104636C>T	uc003fov.2	+	17	2446	c.2200C>T	c.(2200-2202)CGA>TGA	p.R734*	CHRD_uc003fow.2_Nonsense_Mutation_p.R364*|CHRD_uc003fox.2_Nonsense_Mutation_p.R734*|CHRD_uc003foy.2_Nonsense_Mutation_p.R364*|CHRD_uc010hyc.2_Nonsense_Mutation_p.R324*|CHRD_uc011brr.1_Nonsense_Mutation_p.R276*	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	734	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGCAGAGACGAACGGTGAT	0.657												
TRA2B	6434	broad.mit.edu	37	3	185639834	185639834	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:185639834C>T	uc003fpv.2	-	5	879	c.603G>A	c.(601-603)ACG>ACA	p.T201T	TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Silent_p.T101T|TRA2B_uc003fpw.2_Silent_p.T201T	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	201	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						CTGGTGTTGGCGTATGTGGTC	0.353												
BCL6	604	broad.mit.edu	37	3	187444607	187444607	+	Silent	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:187444607G>T	uc003frp.3	-	7	2077	c.1620C>A	c.(1618-1620)ACC>ACA	p.T540T	BCL6_uc011bsf.1_Intron|BCL6_uc010hza.2_Silent_p.T438T|BCL6_uc003frq.1_Silent_p.T540T	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	540	C2H2-type 1.				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGTCACTGTGGGTCTGCAGCG	0.607			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL							
TPRG1	285386	broad.mit.edu	37	3	189038422	189038422	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:189038422G>C	uc003frv.1	+	11	1868	c.641G>C	c.(640-642)GGG>GCG	p.G214A	TPRG1_uc003frw.1_Missense_Mutation_p.G214A	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	214											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CAGTTGTCTGGGTTCATGTCT	0.408												
MUC20	200958	broad.mit.edu	37	3	195452969	195452969	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:195452969C>T	uc010hzo.2	+	3	1108	c.982C>T	c.(982-984)CCA>TCA	p.P328S	MUC20_uc010hzp.2_Missense_Mutation_p.P293S|MUC20_uc011bte.1_RNA	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	499	Involved in oligomerization.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GGTTGGGACCCCACTCCCCAC	0.592												
C3orf43	255798	broad.mit.edu	37	3	196235165	196235165	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:196235165C>T	uc003fws.2	-	3	395	c.238G>A	c.(238-240)GTC>ATC	p.V80I	C3orf43_uc003fwr.2_Missense_Mutation_p.V72I	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	80	Helical; (Potential).					integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		ACTTCAATGACGTAGCTGTAT	0.378												
DGKQ	1609	broad.mit.edu	37	4	960274	960274	+	Missense_Mutation	SNP	G	G	A	rs147014854		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:960274G>A	uc003gbw.2	-	12	1482	c.1408C>T	c.(1408-1410)CGG>TGG	p.R470W	DGKQ_uc010ibn.2_Missense_Mutation_p.R470W	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	470	Ras-associating.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCTGTAGCCGGTCCAGCAGG	0.692												
WHSC1	7468	broad.mit.edu	37	4	1920186	1920186	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:1920186C>T	uc003gdz.3	+	5	1422	c.1246C>T	c.(1246-1248)CCC>TCC	p.P416S	WHSC1_uc003geb.3_Missense_Mutation_p.P416S|WHSC1_uc003gec.3_Missense_Mutation_p.P416S|WHSC1_uc003ged.3_Missense_Mutation_p.P416S|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.P416S|WHSC1_uc003gdy.1_Missense_Mutation_p.P416S|WHSC1_uc010icd.1_Missense_Mutation_p.P416S|WHSC1_uc003gea.1_Missense_Mutation_p.P416S|WHSC1_uc010ice.1_Missense_Mutation_p.P416S|WHSC1_uc003geh.1_Missense_Mutation_p.P416S	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	416					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGAGAGTCACCCCGACATAGG	0.557			T	IGH@	MM							
FAM193A	8603	broad.mit.edu	37	4	2659551	2659551	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:2659551C>T	uc010icl.2	+	6	811	c.460C>T	c.(460-462)CGC>TGC	p.R154C	FAM193A_uc010ick.2_Missense_Mutation_p.R354C|FAM193A_uc003gfd.2_Missense_Mutation_p.R154C|FAM193A_uc011bvm.1_Missense_Mutation_p.R178C|FAM193A_uc011bvn.1_Missense_Mutation_p.R154C|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.R8C	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	154										ovary(3)	3						AACCAAGCAGCGCATGTTAAC	0.338												
HTT	3064	broad.mit.edu	37	4	3134560	3134560	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:3134560G>A	uc011bvq.1	+	19	2566	c.2421G>A	c.(2419-2421)GCG>GCA	p.A807A		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	805	HEAT 4.				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTTCTTTGGCGGATTGCATTC	0.383												
LRPAP1	4043	broad.mit.edu	37	4	3526763	3526763	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:3526763C>T	uc003ghi.2	-	2	305	c.220G>A	c.(220-222)GTG>ATG	p.V74M		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	74					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCCAGCCTCACGGGAGGAAGA	0.597												
MSX1	4487	broad.mit.edu	37	4	4864628	4864628	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:4864628C>T	uc003gif.2	+	2	905	c.670C>T	c.(670-672)CGC>TGC	p.R224C		NM_002448	NP_002439	P28360	MSX1_HUMAN	msh homeobox 1	218	Homeobox.				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCAGAACCGCCGCGCCAAGGC	0.617												
JAKMIP1	152789	broad.mit.edu	37	4	6107538	6107538	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:6107538C>T	uc003giu.3	-	3	562	c.286G>A	c.(286-288)GAG>AAG	p.E96K	JAKMIP1_uc010idb.1_Missense_Mutation_p.E96K|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.E96K|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.E96K|JAKMIP1_uc010ide.2_Missense_Mutation_p.E96K	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	96	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GCCTCCTGCTCGTGCTGCCGG	0.682												
PPP2R2C	5522	broad.mit.edu	37	4	6374306	6374306	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:6374306G>A	uc003gjc.2	-	5	939	c.569C>T	c.(568-570)TCG>TTG	p.S190L	PPP2R2C_uc003gjb.2_Missense_Mutation_p.S173L|PPP2R2C_uc011bwd.1_Missense_Mutation_p.S183L|PPP2R2C_uc011bwe.1_Missense_Mutation_p.S183L|PPP2R2C_uc003gja.2_Missense_Mutation_p.S190L|PPP2R2C_uc003gjd.1_Missense_Mutation_p.S278L	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	190	WD 3.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						GTCATCCGCCGACATGTAGGT	0.587												
WDR1	9948	broad.mit.edu	37	4	10083028	10083028	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:10083028C>T	uc003gmf.2	-	11	1520	c.1237G>A	c.(1237-1239)GTA>ATA	p.V413I	WDR1_uc003gmg.2_Missense_Mutation_p.V273I|WDR1_uc010idm.2_RNA|hsa-mir-3138|MI0014161_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	413					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCGACGGCTACGCACTTTGGC	0.572												
NKX3-2	579	broad.mit.edu	37	4	13544093	13544093	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:13544093C>T	uc003gmx.2	-	2	602	c.526G>A	c.(526-528)GCG>ACG	p.A176T		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	176					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ctgcACAGCGCGGACACGTGT	0.428												
QDPR	5860	broad.mit.edu	37	4	17503370	17503370	+	Silent	SNP	G	G	A	rs3733569		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:17503370G>A	uc003gpd.2	-	4	588	c.408C>T	c.(406-408)GGC>GGT	p.G136G	QDPR_uc003gpe.2_Silent_p.G105G|QDPR_uc003gpf.2_RNA	NM_000320	NP_000311	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	136					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			ovary(1)	1					NADH(DB00157)	CAGCCTTTGCGCCAGCCAAGG	0.552												
ZCCHC4	29063	broad.mit.edu	37	4	25351264	25351264	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:25351264G>T	uc003grl.3	+	7	946	c.910G>T	c.(910-912)GAT>TAT	p.D304Y	ZCCHC4_uc003grm.1_RNA|ZCCHC4_uc003grn.3_Missense_Mutation_p.D70Y	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	304							methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(2)	2		Breast(46;0.0503)				TCAAAGCCAAGGTGTATAATT	0.358												
PCDH7	5099	broad.mit.edu	37	4	30726135	30726135	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:30726135G>A	uc003gsk.1	+	1	4099	c.3091G>A	c.(3091-3093)GTG>ATG	p.V1031M	PCDH7_uc011bxw.1_Missense_Mutation_p.V984M|PCDH7_uc011bxx.1_Missense_Mutation_p.V1031M	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	1031	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CAACACATTTGTGGGAGCAGG	0.453												
ARAP2	116984	broad.mit.edu	37	4	36161102	36161102	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:36161102G>A	uc003gsq.1	-	14	2806	c.2468C>T	c.(2467-2469)CCG>CTG	p.P823L		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	823					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						TAGAACATCCGGTTTCACTAC	0.423												
KLF3	51274	broad.mit.edu	37	4	38698867	38698867	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:38698867C>T	uc003gth.3	+	6	1353	c.1021C>T	c.(1021-1023)CGC>TGC	p.R341C		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	341	C2H2-type 3.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						CCATAGGAAACGCCACATGCT	0.512												
WDR19	57728	broad.mit.edu	37	4	39230289	39230289	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:39230289C>T	uc003gtv.2	+	17	2115	c.1961C>T	c.(1960-1962)GCA>GTA	p.A654V	WDR19_uc011byi.1_Missense_Mutation_p.A494V|WDR19_uc003gtw.1_Missense_Mutation_p.A251V	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	654					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CCAATGCTGGCACAGAATTTA	0.388												
RFC1	5981	broad.mit.edu	37	4	39293450	39293450	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:39293450C>T	uc003gty.1	-	23	3114	c.2980G>A	c.(2980-2982)GTA>ATA	p.V994I	RFC1_uc003gtx.1_Missense_Mutation_p.V993I	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	994					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TCCATGTTTACAGTCCTTTTG	0.428												
KCTD8	386617	broad.mit.edu	37	4	44450516	44450516	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:44450516C>T	uc003gwu.2	-	1	309	c.25G>A	c.(25-27)GGC>AGC	p.G9S		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	9						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						GTGCTGCCGCCGCTGCCCGTG	0.567										HNSCC(17;0.042)		
PDGFRA	5156	broad.mit.edu	37	4	55146512	55146512	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:55146512G>T	uc003han.3	+	16	2517	c.2186G>T	c.(2185-2187)GGT>GTT	p.G729V	PDGFRA_uc003haa.2_Missense_Mutation_p.G489V|PDGFRA_uc010igq.1_Missense_Mutation_p.G623V|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Missense_Mutation_p.G108V	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	729	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAAACAATGGTGACTACATG	0.393			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
LPHN3	23284	broad.mit.edu	37	4	62598963	62598963	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:62598963C>T	uc010ihh.2	+	5	1059	c.886C>T	c.(886-888)CGG>TGG	p.R296W	LPHN3_uc003hcq.3_Missense_Mutation_p.R296W|LPHN3_uc010ihg.1_Missense_Mutation_p.R364W|LPHN3_uc003hcs.1_Missense_Mutation_p.R125W	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	296	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TTACACCCTACGGATCGAAGG	0.393												
TMPRSS11F	389208	broad.mit.edu	37	4	68964641	68964641	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:68964641T>A	uc003hdt.1	-	2	176	c.127A>T	c.(127-129)ATT>TTT	p.I43F		NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	43	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CCAATTGCAATTCCTATGATT	0.383												
COX18	285521	broad.mit.edu	37	4	73930979	73930979	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:73930979C>T	uc003hgm.1	-	3	692	c.586G>A	c.(586-588)GCA>ACA	p.A196T	COX18_uc003hgn.1_Missense_Mutation_p.A45T|COX18_uc011cbc.1_Missense_Mutation_p.A196T|COX18_uc010iih.1_Missense_Mutation_p.A196T	NM_173827	NP_776188	Q8N8Q8	COX18_HUMAN	mitochondrial COX18 precursor	196					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity				0	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTGAATGTGCTGCCCCCGTG	0.368												
ANKRD17	26057	broad.mit.edu	37	4	73956848	73956848	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:73956848C>T	uc003hgp.2	-	29	6614	c.6497G>A	c.(6496-6498)TGC>TAC	p.C2166Y	ANKRD17_uc003hgo.2_Missense_Mutation_p.C2053Y|ANKRD17_uc003hgq.2_Missense_Mutation_p.C1915Y|ANKRD17_uc003hgr.2_Missense_Mutation_p.C2165Y	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2166					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCTGGGGGCATCCCATTGG	0.507												
ANKRD17	26057	broad.mit.edu	37	4	74021806	74021806	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:74021806T>C	uc003hgp.2	-	4	899	c.782A>G	c.(781-783)AAT>AGT	p.N261S	ANKRD17_uc003hgo.2_Missense_Mutation_p.N148S|ANKRD17_uc003hgq.2_Missense_Mutation_p.N261S|ANKRD17_uc003hgr.2_Missense_Mutation_p.N261S|ANKRD17_uc011cbd.1_5'Flank	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	261	ANK 1.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTGTGTTCATTTACACTTCG	0.418												
SEC31A	22872	broad.mit.edu	37	4	83799934	83799934	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:83799934C>T	uc003hnf.2	-	4	515	c.351G>A	c.(349-351)CAG>CAA	p.Q117Q	SEC31A_uc011ccl.1_Silent_p.Q117Q|SEC31A_uc003hnl.2_Silent_p.Q117Q|SEC31A_uc003hng.2_Silent_p.Q117Q|SEC31A_uc003hnh.2_Silent_p.Q117Q|SEC31A_uc003hni.2_Silent_p.Q117Q|SEC31A_uc003hnj.2_Silent_p.Q117Q|SEC31A_uc011ccm.1_Silent_p.Q112Q|SEC31A_uc011ccn.1_Silent_p.Q117Q|SEC31A_uc003hnk.2_Silent_p.Q117Q|SEC31A_uc003hnm.2_Silent_p.Q117Q|SEC31A_uc003hnn.1_Silent_p.Q117Q|SEC31A_uc003hno.2_Silent_p.Q117Q	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	117					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GCTTGTCATTCTGGGCAATCA	0.388												
PTPN13	5783	broad.mit.edu	37	4	87662887	87662887	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:87662887T>C	uc003hpz.2	+	16	2885	c.2405T>C	c.(2404-2406)GTC>GCC	p.V802A	PTPN13_uc003hpy.2_Missense_Mutation_p.V802A|PTPN13_uc003hqa.2_Missense_Mutation_p.V802A|PTPN13_uc003hqb.2_Missense_Mutation_p.V802A	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	802	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCTAAAGGTGTCCTTGTGTTT	0.428												
PTPN13	5783	broad.mit.edu	37	4	87735693	87735693	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:87735693C>A	uc003hpz.2	+	48	7927	c.7447C>A	c.(7447-7449)CTT>ATT	p.L2483I	PTPN13_uc003hpy.2_Missense_Mutation_p.L2488I|PTPN13_uc003hqa.2_Missense_Mutation_p.L2464I|PTPN13_uc003hqb.2_Missense_Mutation_p.L2292I	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2483						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCAGCCTCAGCTTCTGAAGTG	0.418												
PKD2	5311	broad.mit.edu	37	4	88996024	88996024	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:88996024C>T	uc003hre.2	+	14	2649	c.2583C>T	c.(2581-2583)GAC>GAT	p.D861D	PKD2_uc011cdf.1_Silent_p.D279D|PKD2_uc011cdg.1_Silent_p.D187D|PKD2_uc011cdh.1_Silent_p.D84D	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	861	Potential.|C-terminal coiled coil domain.|Cytoplasmic (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CCAAGATTGACGCCGTGATCG	0.547												
HERC5	51191	broad.mit.edu	37	4	89415436	89415436	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:89415436A>G	uc003hrt.2	+	18	2551	c.2398A>G	c.(2398-2400)ATG>GTG	p.M800V	HERC5_uc011cdm.1_Missense_Mutation_p.M438V	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	800	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTGGACCAAATGCCATCATT	0.393												
FAM13A	10144	broad.mit.edu	37	4	89658707	89658707	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:89658707C>A	uc003hse.1	-	21	2771	c.2563_splice	c.e21-1	p.G855_splice	FAM13A_uc011cdp.1_Translation_Start_Site|FAM13A_uc003hsa.1_Intron|FAM13A_uc003hsb.1_Splice_Site_p.G529_splice|FAM13A_uc003hsd.1_Intron|FAM13A_uc003hsc.1_Splice_Site_p.G515_splice|FAM13A_uc011cdq.1_Splice_Site_p.G501_splice|FAM13A_uc003hsf.1_Splice_Site_p.G441_splice|FAM13A_uc003hsg.1_Intron	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						AGGGGGAACCCTGTGACAGGT	0.507												
GRID2	2895	broad.mit.edu	37	4	94316824	94316824	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:94316824A>G	uc011cdt.1	+	9	1570	c.1312A>G	c.(1312-1314)ATG>GTG	p.M438V	GRID2_uc011cdu.1_Missense_Mutation_p.M343V	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	438	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGAGAATAACATGCGTGGAGT	0.403												
COL25A1	84570	broad.mit.edu	37	4	109774059	109774059	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:109774059G>A	uc003hze.1	-	24	1874	c.1343C>T	c.(1342-1344)ACG>ATG	p.T448M	COL25A1_uc003hzg.2_Missense_Mutation_p.T448M|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Intron	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	448	Extracellular (Potential).|Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGGAGTTACCGTGACAGTTAA	0.363												
FAT4	79633	broad.mit.edu	37	4	126371970	126371970	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:126371970A>G	uc003ifj.3	+	9	9799	c.9799A>G	c.(9799-9801)ACT>GCT	p.T3267A	FAT4_uc011cgp.1_Missense_Mutation_p.T1565A|FAT4_uc003ifi.1_Missense_Mutation_p.T745A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3267	Cadherin 31.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTACCATCTTACTGTGAAAGC	0.423												
HSPA4L	22824	broad.mit.edu	37	4	128722950	128722950	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:128722950G>A	uc003ifm.2	+	6	793	c.540G>A	c.(538-540)GCG>GCA	p.A180A	HSPA4L_uc010iny.1_Silent_p.A139A|HSPA4L_uc011cgr.1_Silent_p.A147A	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	180					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TTGCACTGGCGTATGGAATTT	0.338												
UCP1	7350	broad.mit.edu	37	4	141488942	141488942	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:141488942C>T	uc011chj.1	-	2	392	c.316G>A	c.(316-318)GGG>AGG	p.G106R	UCP1_uc011chk.1_Missense_Mutation_p.G106R	NM_021833	NP_068605	P25874	UCP1_HUMAN	uncoupling protein 1	106					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	all_hematologic(180;0.162)					CTTTCTTTCCCTGCGGTGAGG	0.567												
TBC1D9	23158	broad.mit.edu	37	4	141590148	141590148	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:141590148C>T	uc010ioj.2	-	9	1783	c.1511G>A	c.(1510-1512)CGC>CAC	p.R504H		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	504						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTTCTCTGTGCGGTACATGCA	0.542												
HHIP	64399	broad.mit.edu	37	4	145568052	145568052	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:145568052G>A	uc003ijs.1	+	1	880	c.225G>A	c.(223-225)CGG>CGA	p.R75R	uc003ijq.1_5'Flank|HHIP_uc003ijr.1_Silent_p.R75R	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	75						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)		TCTACCCTCGGCTGTCCTGCT	0.622												
NR3C2	4306	broad.mit.edu	37	4	149357500	149357500	+	Silent	SNP	G	G	A	rs146027424		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:149357500G>A	uc003ilj.3	-	2	847	c.513C>T	c.(511-513)TCC>TCT	p.S171S	NR3C2_uc003ilk.3_Silent_p.S171S|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	171	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CACCATTCACGGAGCTCCCAG	0.478												
LRBA	987	broad.mit.edu	37	4	151520184	151520184	+	Silent	SNP	C	C	T	rs138018109	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:151520184C>T	uc010ipj.2	-	38	6495	c.6021G>A	c.(6019-6021)GCG>GCA	p.A2007A	LRBA_uc003ilt.3_Silent_p.A666A|LRBA_uc003ilu.3_Silent_p.A2007A	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2007						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TTTTTAGTGTCGCTTCAGGAT	0.488												
DCHS2	54798	broad.mit.edu	37	4	155254305	155254305	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:155254305C>T	uc003inw.2	-	9	1558	c.1558G>A	c.(1558-1560)GCC>ACC	p.A520T	DCHS2_uc003inx.2_Missense_Mutation_p.A1019T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	520	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGCGGGCTGGCGATGGAGTAC	0.652												
TKTL2	84076	broad.mit.edu	37	4	164394544	164394544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:164394544G>A	uc003iqp.3	-	1	504	c.343C>T	c.(343-345)CGA>TGA	p.R115*		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	115						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AACGGCAATCGGGGGGTAGGG	0.522												
DCTD	1635	broad.mit.edu	37	4	183815664	183815664	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:183815664G>A	uc003ivf.2	-	4	513	c.339C>T	c.(337-339)TGC>TGT	p.C113C	DCTD_uc003ivg.2_Silent_p.C124C|DCTD_uc010irw.2_Silent_p.C54C|DCTD_uc003ivh.2_Silent_p.C54C	NM_001921	NP_001912	P32321	DCTD_HUMAN	dCMP deaminase isoform b	113		Zinc; catalytic (By similarity).			nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding				0		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		TGAGCTTAGCGCATTCATTAC	0.473												
PLEKHG4B	153478	broad.mit.edu	37	5	182187	182187	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:182187T>C	uc003jak.2	+	18	3615	c.3565T>C	c.(3565-3567)TCC>CCC	p.S1189P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1189	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCGACCACACTCCACCATCTC	0.632												
SDHA	6389	broad.mit.edu	37	5	235283	235283	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:235283C>T	uc003jao.3	+	9	1204	c.1089C>T	c.(1087-1089)CAC>CAT	p.H363H	SDHA_uc003jan.2_Silent_p.H363H|SDHA_uc011clv.1_Silent_p.H363H|SDHA_uc011clw.1_Silent_p.H315H|SDHA_uc003jap.3_Silent_p.H363H|SDHA_uc003jaq.3_Silent_p.H138H|SDHA_uc003jar.3_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	363					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AGAAAGATCACGTCTACCTGC	0.572									Familial_Paragangliomas			
SLC12A7	10723	broad.mit.edu	37	5	1089189	1089189	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:1089189G>T	uc003jbu.2	-	4	463	c.397C>A	c.(397-399)CTG>ATG	p.L133M		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	133	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)	ATGACGCCCAGGATGTTCTGC	0.632												
ADAMTS16	170690	broad.mit.edu	37	5	5303508	5303508	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:5303508C>T	uc003jdl.2	+	19	3055	c.2917C>T	c.(2917-2919)CCT>TCT	p.P973S	ADAMTS16_uc003jdk.1_Missense_Mutation_p.P973S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	973	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GTGCCCTCAGCCTGCTCCCTC	0.701												
CTNND2	1501	broad.mit.edu	37	5	11384986	11384986	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:11384986G>A	uc003jfa.1	-	7	1113	c.968C>T	c.(967-969)TCG>TTG	p.S323L	CTNND2_uc010itt.2_Missense_Mutation_p.S232L|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	323					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CAGGCCGGCCGAGGACACGAC	0.567												
DNAH5	1767	broad.mit.edu	37	5	13885313	13885313	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:13885313T>C	uc003jfd.2	-	19	2810	c.2768A>G	c.(2767-2769)GAC>GGC	p.D923G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	923	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGTCAAGGTGTCAAAATTTCC	0.333									Kartagener_syndrome			
FBXL7	23194	broad.mit.edu	37	5	15937257	15937257	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:15937257C>T	uc003jfn.1	+	4	1919	c.1438C>T	c.(1438-1440)CGC>TGC	p.R480C		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	480					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CCACTGCAAGCGCTGCGTCAT	0.532												
CDH18	1016	broad.mit.edu	37	5	19473685	19473685	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:19473685C>A	uc003jgc.2	-	12	2400	c.2023G>T	c.(2023-2025)GCC>TCC	p.A675S	CDH18_uc003jgd.2_Missense_Mutation_p.A675S|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	675	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTCCTCAAGGCTGTGATGTCA	0.522												
PDZD2	23037	broad.mit.edu	37	5	31983413	31983413	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:31983413C>T	uc003jhl.2	+	3	1017	c.629C>T	c.(628-630)GCG>GTG	p.A210V	PDZD2_uc003jhm.2_Missense_Mutation_p.A210V|PDZD2_uc011cnx.1_Missense_Mutation_p.A36V	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	210					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.A210V(1)		central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GACCGAACTGCGAAAAAGGGG	0.542												
RAI14	26064	broad.mit.edu	37	5	34823757	34823757	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:34823757G>A	uc003jir.2	+	15	2006	c.1810G>A	c.(1810-1812)GCC>ACC	p.A604T	RAI14_uc010iur.2_Missense_Mutation_p.A575T|RAI14_uc011coj.1_Missense_Mutation_p.A604T|RAI14_uc003jis.2_Missense_Mutation_p.A607T|RAI14_uc003jit.2_Missense_Mutation_p.A604T|RAI14_uc011cok.1_Missense_Mutation_p.A596T	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	604	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					ATACCAAGAAGCCCAAGAAGA	0.373												
NIPBL	25836	broad.mit.edu	37	5	36985440	36985440	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:36985440G>T	uc003jkl.3	+	10	2657	c.2158G>T	c.(2158-2160)GGG>TGG	p.G720W	NIPBL_uc003jkk.3_Missense_Mutation_p.G720W|NIPBL_uc003jkm.1_Missense_Mutation_p.G599W	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	720					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)			AAAGAGTGATGGGCATCCTGA	0.453												
NUP155	9631	broad.mit.edu	37	5	37314390	37314390	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:37314390C>T	uc003jku.1	-	22	2464	c.2346G>A	c.(2344-2346)CAG>CAA	p.Q782Q	NUP155_uc003jkt.1_Silent_p.Q723Q|NUP155_uc010iuz.1_Silent_p.Q782Q	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	782					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAACCAACTGCTGAATTGCCT	0.313												
NUP155	9631	broad.mit.edu	37	5	37352911	37352911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:37352911G>A	uc003jku.1	-	5	602	c.484C>T	c.(484-486)CGA>TGA	p.R162*	NUP155_uc003jkt.1_Nonsense_Mutation_p.R103*|NUP155_uc010iuz.1_Nonsense_Mutation_p.R162*	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	162					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGAGGTGTCGCACATGAGGT	0.408												
SEPP1	6414	broad.mit.edu	37	5	42807037	42807037	+	RNA	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:42807037A>G	uc011cps.1	-	4		c.565T>C			SEPP1_uc011cpt.1_RNA|SEPP1_uc011cpu.1_RNA|SEPP1_uc011cpv.1_RNA|SEPP1_uc003jna.2_RNA			P49908	SEPP1_HUMAN	Homo sapiens cDNA FLJ37321 fis, clone BRAMY2018122.						response to oxidative stress	extracellular region	selenium binding				0						TCCATTTAAAAGAGTCCAGAC	0.313												
SNX18	112574	broad.mit.edu	37	5	53814902	53814902	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:53814902G>T	uc003jpj.3	+	1	1310	c.1120G>T	c.(1120-1122)GTC>TTC	p.V374F	SNX18_uc011cqg.1_Missense_Mutation_p.V374F|SNX18_uc003jpi.3_Missense_Mutation_p.V374F	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	374	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GCAGTGCGACGTCTTCCAGCA	0.622												
SNX18	112574	broad.mit.edu	37	5	53815132	53815132	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:53815132C>T	uc003jpj.3	+	1	1540	c.1350C>T	c.(1348-1350)AAC>AAT	p.N450N	SNX18_uc011cqg.1_Silent_p.N450N|SNX18_uc003jpi.3_Silent_p.N450N	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	450	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				ACACGGCCAACGAGTTCGCGC	0.607												
GZMK	3003	broad.mit.edu	37	5	54327395	54327395	+	Silent	SNP	C	C	T	rs142007081		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:54327395C>T	uc003jpl.1	+	4	611	c.567C>T	c.(565-567)GGC>GGT	p.G189G		NM_002104	NP_002095	P49863	GRAK_HUMAN	granzyme K precursor	189	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACTACAACGGCGACCCTTTTA	0.463												
GPBP1	65056	broad.mit.edu	37	5	56531794	56531794	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:56531794C>T	uc003jrh.3	+	6	1687	c.413C>T	c.(412-414)CCG>CTG	p.P138L	GPBP1_uc010iwg.2_Missense_Mutation_p.P138L|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Missense_Mutation_p.P145L|GPBP1_uc003jrk.3_Missense_Mutation_p.P145L|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TTCTTCCAGCCGTCTTTAAAT	0.323												
SV2C	22987	broad.mit.edu	37	5	75427714	75427714	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:75427714A>T	uc003kei.1	+	2	273	c.139A>T	c.(139-141)AGT>TGT	p.S47C		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	47	Interaction with SYT1 (By similarity).|Cytoplasmic (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GAGGTCCTACAGTCGGTTCCA	0.498												
NR2F1	7025	broad.mit.edu	37	5	92923833	92923833	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:92923833G>A	uc003kkj.2	+	2	2361	c.674G>A	c.(673-675)CGC>CAC	p.R225H		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	225					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGGCCGCGCGCCTGCTCTTC	0.657												
NR2F1	7025	broad.mit.edu	37	5	92929431	92929431	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:92929431C>T	uc003kkj.2	+	3	2842	c.1155C>T	c.(1153-1155)ATC>ATT	p.I385I		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	385					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CCTCCGTCATCGAGCAGCTCT	0.567												
FAM81B	153643	broad.mit.edu	37	5	94782294	94782294	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:94782294G>A	uc003kla.1	+	8	968	c.922G>A	c.(922-924)GAA>AAA	p.E308K	FAM81B_uc010jbe.1_Missense_Mutation_p.E104K	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	308										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TAATCTGTACGAAGAAGTTGA	0.279												
SLCO4C1	353189	broad.mit.edu	37	5	101631744	101631744	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:101631744G>A	uc003knm.2	-	1	510	c.223C>T	c.(223-225)CTC>TTC	p.L75F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	75	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGTGACCGGAGCTTCTCTTCG	0.572												
KCNN2	3781	broad.mit.edu	37	5	113698585	113698585	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:113698585C>T	uc003kqo.2	+	1	570	c.113C>T	c.(112-114)GCG>GTG	p.A38V		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	38						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CAGCCCCCCGCGTCTGTCGGA	0.711												
ATG12	9140	broad.mit.edu	37	5	115177372	115177372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:115177372G>A	uc003krh.2	-	1	128	c.19C>T	c.(19-21)CAA>TAA	p.Q7*	AP3S1_uc003krl.2_5'Flank|AP3S1_uc003krk.2_5'Flank|AP3S1_uc003krm.2_5'Flank|ATG12_uc003kri.2_Nonsense_Mutation_p.Q7*|ATG12_uc003krj.2_RNA	NM_004707	NP_004698	O94817	ATG12_HUMAN	APG12 autophagy 12-like	Error:Variant_position_missing_in_O94817_after_alignment					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		AGTGAAACTTGGTGTTCCCGG	0.567												
FTMT	94033	broad.mit.edu	37	5	121188080	121188080	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:121188080G>A	uc003kss.2	+	1	431	c.422G>A	c.(421-423)CGC>CAC	p.R141H		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	141	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGCCGGATCCGCCTGCAGGAC	0.572												
LOX	4015	broad.mit.edu	37	5	121413317	121413317	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:121413317G>A	uc003ksu.2	-	1	739	c.364C>T	c.(364-366)CGT>TGT	p.R122C	LOX_uc010jcq.2_5'Flank|LOX_uc011cwk.1_5'Flank|LOX_uc010jcr.2_5'Flank	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein	122					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		AACCAGTGACGGGCGGTGGGC	0.701												
SHROOM1	134549	broad.mit.edu	37	5	132158995	132158995	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:132158995G>A	uc003kxx.2	-	9	2978	c.2173C>T	c.(2173-2175)CGC>TGC	p.R725C	SHROOM1_uc003kxy.1_Missense_Mutation_p.R725C	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	725	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGGCGCACGCGCGCCAGGCGA	0.697												
FSTL4	23105	broad.mit.edu	37	5	132545909	132545909	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:132545909C>T	uc003kyn.1	-	14	1908	c.1690G>A	c.(1690-1692)GTG>ATG	p.V564M	FSTL4_uc003kym.1_Missense_Mutation_p.V213M	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	564						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACTTGTGCACGTCCCCCCAG	0.498												
TCF7	6932	broad.mit.edu	37	5	133481970	133481970	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:133481970G>A	uc003kyt.2	+	10	1327	c.1131G>A	c.(1129-1131)CCG>CCA	p.P377P	TCF7_uc003kyv.2_3'UTR|TCF7_uc003kyw.2_Silent_p.P262P|TCF7_uc003kyx.2_Silent_p.P175P|TCF7_uc003kyy.2_Silent_p.P262P|TCF7_uc003kyz.2_Missense_Mutation_p.V287I|TCF7_uc003kza.2_3'UTR|TCF7_uc003kzb.2_Silent_p.P191P|TCF7_uc010jdu.2_RNA	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	Error:Variant_position_missing_in_P36402_after_alignment					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding				0		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCAGCCCCGTTCCTTCCGA	0.557											OREG0016787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PITX1	5307	broad.mit.edu	37	5	134364669	134364669	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:134364669T>C	uc010jea.2	-	3	1138	c.745A>G	c.(745-747)ACC>GCC	p.T249A	PITX1_uc011cxy.1_Missense_Mutation_p.T249A	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	249	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GAGGAGCCGGTGAGGTTGTTG	0.662												
NEUROG1	4762	broad.mit.edu	37	5	134870907	134870907	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:134870907G>A	uc003lax.2	-	1	733	c.474C>T	c.(472-474)GGC>GGT	p.G158G		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	158					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCGGGCACCGCCTCCGGGCA	0.711												
TRPC7	57113	broad.mit.edu	37	5	135692587	135692587	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:135692587G>A	uc003lbn.1	-	1	489	c.486C>T	c.(484-486)CAC>CAT	p.H162H	TRPC7_uc010jef.1_Silent_p.H154H|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.H154H|TRPC7_uc010jei.1_Silent_p.H154H|TRPC7_uc010jej.1_Translation_Start_Site	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	163	Cytoplasmic (Potential).|ANK 4.				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)			GCGTGATGTCGTGGGAGAAGC	0.662												
TRPC7	57113	broad.mit.edu	37	5	135692718	135692718	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:135692718G>A	uc003lbn.1	-	1	358	c.355C>T	c.(355-357)CGC>TGC	p.R119C	TRPC7_uc010jef.1_Missense_Mutation_p.R111C|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R111C|TRPC7_uc010jei.1_Missense_Mutation_p.R111C|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	120	Cytoplasmic (Potential).|ANK 3.				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)			TCCACGATGCGCACATAGCCC	0.662												
LRRTM2	26045	broad.mit.edu	37	5	138208851	138208851	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:138208851G>T	uc011cyz.1	-	2	1856	c.1399C>A	c.(1399-1401)CTC>ATC	p.L467I	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_RNA|LRRTM2_uc011cza.1_Missense_Mutation_p.L333I|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	467	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGGATCGGAGCTGCCTGTGG	0.423												
DNAJC18	202052	broad.mit.edu	37	5	138773104	138773104	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:138773104C>T	uc003len.2	-	2	189	c.184G>A	c.(184-186)GGG>AGG	p.G62R	DNAJC18_uc010jff.2_Missense_Mutation_p.G62R	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	62					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)|kidney(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTGGAGTTCCCCTCACCCTGC	0.398												
NDUFA2	4695	broad.mit.edu	37	5	140027106	140027106	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140027106G>A	uc003lgp.2	-	1	135	c.63C>T	c.(61-63)ATC>ATT	p.I21I	IK_uc011czk.1_5'Flank|IK_uc003lgq.2_5'Flank	NM_002488	NP_002479	O43678	NDUA2_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	21					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		NADH(DB00157)	GACATAAGTGGATGCGAATCT	0.657												
HARS2	23438	broad.mit.edu	37	5	140077214	140077214	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140077214A>G	uc003lgx.2	+	11	1474	c.1258A>G	c.(1258-1260)AAC>GAC	p.N420D	HARS2_uc011czr.1_Missense_Mutation_p.N395D|HARS2_uc011czs.1_Missense_Mutation_p.N276D|HARS2_uc011czt.1_Missense_Mutation_p.N248D|HARS2_uc011czu.1_Missense_Mutation_p.N246D|ZMAT2_uc003lgy.1_5'Flank	NM_012208	NP_036340	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2 precursor	420					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACAGAAGAACTTTCTCCA	0.433												
PCDHA3	56145	broad.mit.edu	37	5	140182243	140182243	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140182243C>T	uc003lhf.2	+	1	1461	c.1461C>T	c.(1459-1461)AAC>AAT	p.N487N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.N487N	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	487	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCCCTGGTGT	0.667												
PCDHA4	56144	broad.mit.edu	37	5	140188216	140188216	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140188216G>A	uc003lhi.2	+	1	1545	c.1444G>A	c.(1444-1446)GCG>ACG	p.A482T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A482T|PCDHA4_uc011daa.1_Missense_Mutation_p.A482T	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	482	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.657												
PCDHA7	56141	broad.mit.edu	37	5	140215247	140215247	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140215247G>A	uc003lhq.2	+	1	1279	c.1279G>A	c.(1279-1281)GCG>ACG	p.A427T	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_uc011dac.1_Missense_Mutation_p.A427T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTTACCGCGCGGGACGG	0.622												
PCDHA11	56138	broad.mit.edu	37	5	140250554	140250554	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140250554C>T	uc003lia.2	+	1	2724	c.1866C>T	c.(1864-1866)CGC>CGT	p.R622R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.R622R	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	622	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGTTCCGCGTGGGGCTGT	0.647												
PCDHA12	56137	broad.mit.edu	37	5	140256852	140256852	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140256852G>A	uc003lic.2	+	1	1922	c.1795G>A	c.(1795-1797)GCT>ACT	p.A599T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A599T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	599	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGGACGCTGACTCCGG	0.682												
PCDHA13	56136	broad.mit.edu	37	5	140263524	140263524	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140263524C>T	uc003lif.2	+	1	1671	c.1671C>T	c.(1669-1671)GAC>GAT	p.D557D	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_Silent_p.D557D|PCDHA13_uc003lid.2_Silent_p.D557D	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	557	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.697												
PCDHB2	56133	broad.mit.edu	37	5	140475274	140475274	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140475274G>A	uc003lil.2	+	1	1038	c.900G>A	c.(898-900)TCG>TCA	p.S300S	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	300	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCAAAATCGGGAGAACTGC	0.418												
PCDHB7	56129	broad.mit.edu	37	5	140553683	140553683	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140553683G>A	uc003lit.2	+	1	1441	c.1267G>A	c.(1267-1269)GTC>ATC	p.V423I		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	423	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCATCACCGTCACCGACTT	0.517												
PCDHB12	56124	broad.mit.edu	37	5	140589878	140589878	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140589878G>A	uc003liz.2	+	1	1588	c.1399G>A	c.(1399-1401)GCC>ACC	p.A467T	PCDHB12_uc011dak.1_Missense_Mutation_p.A130T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	467	Extracellular (Potential).|Cadherin 5.				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)			CAACAGCCCCGCCCTGCACAT	0.637												
PCDHB13	56123	broad.mit.edu	37	5	140594150	140594150	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140594150C>T	uc003lja.1	+	1	642	c.455C>T	c.(454-456)ACG>ATG	p.T152M		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	152	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGGACTACGTTTCCTCTG	0.438												
PCDHB15	56121	broad.mit.edu	37	5	140626476	140626476	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140626476G>A	uc003lje.2	+	1	1330	c.1330G>A	c.(1330-1332)GTC>ATC	p.V444I		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	444	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGTCGGACGTCAATGACAA	0.587												
PCDHGA1	56114	broad.mit.edu	37	5	140712338	140712338	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140712338C>T	uc003lji.1	+	1	2087	c.2087C>T	c.(2086-2088)GCG>GTG	p.A696V	PCDHGA1_uc011dan.1_Missense_Mutation_p.A696V	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	696	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGCGGCCGCG	0.672												
PCDHGA6	56109	broad.mit.edu	37	5	140755314	140755314	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140755314A>G	uc003ljy.1	+	1	1664	c.1664A>G	c.(1663-1665)CAG>CGG	p.Q555R	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_uc011dau.1_Missense_Mutation_p.Q555R	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	555	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGGACCAGAATGACAAT	0.637												
PCDHGB5	56101	broad.mit.edu	37	5	140779357	140779357	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140779357G>A	uc003lkf.1	+	1	1663	c.1663G>A	c.(1663-1665)GCA>ACA	p.A555T	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.A555T	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	555	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)			AAACGACAACGCACCGCGGGT	0.677												
PCDHGA9	56107	broad.mit.edu	37	5	140784685	140784685	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140784685G>A	uc003lkh.1	+	1	2166	c.2166G>A	c.(2164-2166)TCG>TCA	p.S722S	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_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.S722S	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	722	Cytoplasmic (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)			GGCACTCCTCGCATCTGCTGC	0.577												
SLC36A1	206358	broad.mit.edu	37	5	150847278	150847278	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:150847278C>T	uc003luc.2	+	7	732	c.515C>T	c.(514-516)GCG>GTG	p.A172V	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.A172V|SLC36A1_uc010jhw.1_Missense_Mutation_p.A172V	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	172	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GTGATAGAAGCGGCCAATGGG	0.532												
SGCD	6444	broad.mit.edu	37	5	155771622	155771622	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:155771622A>G	uc003lwd.3	+	2	600	c.124A>G	c.(124-126)ATG>GTG	p.M42V	SGCD_uc003lwa.1_Missense_Mutation_p.M43V|SGCD_uc003lwb.2_Missense_Mutation_p.M43V|SGCD_uc003lwc.3_Missense_Mutation_p.M43V	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	delta-sarcoglycan isoform 3	42	Helical; Signal-anchor for type II membrane protein; (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGCTCCTCATGATTTTAAT	0.458												
SOX30	11063	broad.mit.edu	37	5	157065329	157065329	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:157065329G>T	uc003lxb.1	-	4	2131	c.1789C>A	c.(1789-1791)CTT>ATT	p.L597I	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.L292I	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	597	Pro-rich.				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATGGCCAAGGGGAGGGGGC	0.537												
STC2	8614	broad.mit.edu	37	5	172750373	172750373	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:172750373C>T	uc003mco.1	-	3	1665	c.355G>A	c.(355-357)GGC>AGC	p.G119S	STC2_uc003mcn.1_Missense_Mutation_p.G34S	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	119					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTATGCAGCCGAACCTGTGC	0.597												
RNF44	22838	broad.mit.edu	37	5	175956364	175956364	+	Silent	SNP	G	G	A	rs148448080		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:175956364G>A	uc003mek.1	-	10	1686	c.1161C>T	c.(1159-1161)TTC>TTT	p.F387F	RNF44_uc011dfo.1_Silent_p.F295F|RNF44_uc003mel.1_Silent_p.F76F	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	ring finger protein 44	387	RING-type; atypical.						zinc ion binding				0	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGCGCCTCGAAGTCACTGA	0.612												
HK3	3101	broad.mit.edu	37	5	176314250	176314250	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:176314250G>A	uc003mfa.2	-	12	1781	c.1689C>T	c.(1687-1689)AGC>AGT	p.S563S	HK3_uc003mez.2_Silent_p.S119S	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	563	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTAGATCTCGCTGGTGATCT	0.627												
DDX41	51428	broad.mit.edu	37	5	176940764	176940764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:176940764G>T	uc003mho.2	-	10	1041	c.1020C>A	c.(1018-1020)TAC>TAA	p.Y340*	DDX41_uc003mhm.2_Nonsense_Mutation_p.Y120*|DDX41_uc003mhn.2_Nonsense_Mutation_p.Y209*|DDX41_uc003mhp.2_Nonsense_Mutation_p.Y209*|DDX41_uc003mhq.1_Nonsense_Mutation_p.Y120*	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	340	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAGGGCCAGGTAGCGACAGA	0.617												
RMND5B	64777	broad.mit.edu	37	5	177571054	177571054	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:177571054G>A	uc003mim.2	+	7	819	c.639G>A	c.(637-639)CTG>CTA	p.L213L	RMND5B_uc003min.2_Silent_p.L213L|RMND5B_uc003mio.2_Silent_p.L200L|RMND5B_uc003mip.2_Silent_p.L213L|RMND5B_uc011dgf.1_Silent_p.L254L|RMND5B_uc003miq.2_Silent_p.L153L	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog	213										ovary(1)|skin(1)	2	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			CGAAGCAGCTGGAGGCCCTCA	0.652												
ZNF354A	6940	broad.mit.edu	37	5	178154086	178154086	+	Missense_Mutation	SNP	C	C	T	rs142465132	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:178154086C>T	uc003mjj.2	-	3	272	c.74G>A	c.(73-75)CGA>CAA	p.R25Q		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	25	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		CCACTCATCTCGGGTAAACAG	0.537												
GRM6	2916	broad.mit.edu	37	5	178410152	178410152	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:178410152G>A	uc003mjr.2	-	9	2374	c.2195C>T	c.(2194-2196)ACG>ATG	p.T732M	GRM6_uc003mjq.2_Missense_Mutation_p.T135M	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	732	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GGGGTCCACCGTCCGCTGTTC	0.627												
CANX	821	broad.mit.edu	37	5	179132840	179132840	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:179132840C>A	uc003mkk.2	+	2	335	c.158C>A	c.(157-159)CCT>CAT	p.P53H	CANX_uc011dgp.1_Missense_Mutation_p.P88H|CANX_uc010jlb.1_Intron|CANX_uc003mkl.2_Missense_Mutation_p.P53H|CANX_uc011dgq.1_5'UTR	NM_001746	NP_001737	P27824	CALX_HUMAN	calnexin precursor	53	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding				0	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGCTCCTCCTTCATCTCCC	0.259												
FLT4	2324	broad.mit.edu	37	5	180047278	180047278	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:180047278G>T	uc003mma.3	-	17	2516	c.2437C>A	c.(2437-2439)CTG>ATG	p.L813M	FLT4_uc003mlz.3_Missense_Mutation_p.L813M|FLT4_uc003mmb.1_Missense_Mutation_p.L346M	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	813	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|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)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATGGACAGGTAGCCCGTC	0.627									Congenital_Hereditary_Lymphedema			
FLT4	2324	broad.mit.edu	37	5	180052971	180052971	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:180052971C>T	uc003mma.3	-	10	1398	c.1319G>A	c.(1318-1320)CGC>CAC	p.R440H	FLT4_uc003mlz.3_Missense_Mutation_p.R440H|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.R440H	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	440	Ig-like C2-type 5.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|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)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGGCCTGGCGGCTGTGACG	0.657									Congenital_Hereditary_Lymphedema			
FAM50B	26240	broad.mit.edu	37	6	3850440	3850440	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:3850440A>G	uc003mvu.2	+	2	507	c.395A>G	c.(394-396)GAC>GGC	p.D132G		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	132						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GACCAGGCCGACGCGGCCGAG	0.547												
F13A1	2162	broad.mit.edu	37	6	6266819	6266819	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:6266819C>T	uc003mwv.2	-	4	666	c.543G>A	c.(541-543)ACG>ACA	p.T181T	F13A1_uc011dib.1_Silent_p.T118T	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	181					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGAGAATGTACGTGTCTGTTT	0.368												
RREB1	6239	broad.mit.edu	37	6	7229250	7229250	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:7229250G>A	uc003mxc.2	+	10	1308	c.918G>A	c.(916-918)CTG>CTA	p.L306L	RREB1_uc003mxb.2_Silent_p.L306L|RREB1_uc010jnx.2_Silent_p.L306L	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	306					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AAACAAACCTGCGGAGGTGCA	0.502												
RREB1	6239	broad.mit.edu	37	6	7248772	7248772	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:7248772C>T	uc003mxc.2	+	12	5025	c.4635C>T	c.(4633-4635)TGC>TGT	p.C1545C	RREB1_uc003mxb.2_Silent_p.C1600C|RREB1_uc010jnx.2_Silent_p.C1334C	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1545	C2H2-type 15.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTCAGACCTGCGAGCGAACCT	0.542												
BMP6	654	broad.mit.edu	37	6	7862640	7862640	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:7862640C>T	uc003mxu.3	+	4	1291	c.1113C>T	c.(1111-1113)CGC>CGT	p.R371R		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	371					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					TGCACGTGCGCACCACCAGGT	0.637												
HIVEP1	3096	broad.mit.edu	37	6	12123069	12123069	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:12123069G>T	uc003nac.2	+	4	3220	c.3041G>T	c.(3040-3042)AGA>ATA	p.R1014I	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1014					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTACACTACAGAGTCGCTGGG	0.493												
RANBP9	10048	broad.mit.edu	37	6	13711196	13711196	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:13711196G>C	uc003nbb.2	-	1	601	c.542C>G	c.(541-543)TCT>TGT	p.S181C		NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	181	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)			GTTGTTCTGAGAGAGGCCGAT	0.667												
ID4	3400	broad.mit.edu	37	6	19838301	19838301	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:19838301C>T	uc003ncw.2	+	1	685	c.316C>T	c.(316-318)CTG>TTG	p.L106L		NM_001546	NP_001537	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative	106							transcription corepressor activity				0	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			GGACCTGCAGCTGGCGCTGGA	0.701												
E2F3	1871	broad.mit.edu	37	6	20402537	20402537	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:20402537T>C	uc003nda.2	+	1	401	c.74T>C	c.(73-75)GTC>GCC	p.V25A	E2F3_uc003ncz.2_Missense_Mutation_p.V25A	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	25					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GCGGCTGTCGTCGCCGCCGCC	0.562												
E2F3	1871	broad.mit.edu	37	6	20402541	20402541	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:20402541C>T	uc003nda.2	+	1	405	c.78C>T	c.(76-78)GCC>GCT	p.A26A	E2F3_uc003ncz.2_Silent_p.A26A	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	26	Poly-Ala.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTGTCGTCGCCGCCGCCGCTG	0.567												
E2F3	1871	broad.mit.edu	37	6	20402547	20402547	+	Silent	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:20402547C>A	uc003nda.2	+	1	411	c.84C>A	c.(82-84)GCC>GCA	p.A28A	E2F3_uc003ncz.2_Silent_p.A28A	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	28	Poly-Ala.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TCGCCGCCGCCGCTGCAGCCT	0.577												
BTN2A2	10385	broad.mit.edu	37	6	26384083	26384083	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:26384083C>T	uc003nhq.2	+	2	120	c.34C>T	c.(34-36)CCA>TCA	p.P12S	BTN2A2_uc011dkf.1_Missense_Mutation_p.P12S|BTN2A2_uc011dkg.1_Missense_Mutation_p.P12S|BTN2A2_uc003nhr.2_Missense_Mutation_p.P12S|BTN2A2_uc011dkh.1_Missense_Mutation_p.P12S|BTN2A2_uc003nhs.2_Missense_Mutation_p.P12S|BTN2A2_uc003nht.2_Missense_Mutation_p.P12S	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	12					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						CTTCTCCCTGCCAGCCTCcct	0.488												
OR2B6	26212	broad.mit.edu	37	6	27925524	27925524	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:27925524G>A	uc011dkx.1	+	1	506	c.506G>A	c.(505-507)TGT>TAT	p.C169Y		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CTGCCACTCTGTGACCCCTAT	0.488												
ZKSCAN4	387032	broad.mit.edu	37	6	28213039	28213039	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:28213039C>T	uc003nks.1	-	5	1737	c.1493G>A	c.(1492-1494)CGG>CAG	p.R498Q	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.R343Q	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	498	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						ACTTCTATTCCGTGTGAAACT	0.443												
SCAND3	114821	broad.mit.edu	37	6	28540480	28540480	+	Silent	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:28540480T>C	uc003nlo.2	-	4	3804	c.3186A>G	c.(3184-3186)TTA>TTG	p.L1062L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1062					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ttccccgtgataaccaccgta	0												
OR2H2	7932	broad.mit.edu	37	6	29556085	29556085	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:29556085G>A	uc003nmr.1	+	1	403	c.364G>A	c.(364-366)GTG>ATG	p.V122M	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	122	Cytoplasmic (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGATCGCTACGTGGCTGTCTG	0.577												
MOG	4340	broad.mit.edu	37	6	29638078	29638078	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:29638078C>T	uc003nnf.2	+	6	791	c.613C>T	c.(613-615)CCC>TCC	p.P205S	MOG_uc003nmy.1_Missense_Mutation_p.P205S|MOG_uc003nmz.2_3'UTR|MOG_uc011dlt.1_Missense_Mutation_p.P135S|MOG_uc003nna.2_Missense_Mutation_p.P89S|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_3'UTR|MOG_uc003nne.2_Missense_Mutation_p.P205S|MOG_uc003nng.2_Intron|MOG_uc003nnh.2_Intron|MOG_uc003nni.2_Intron|MOG_uc003nnj.2_Intron|MOG_uc003nnk.2_Intron	NM_206809	NP_996532	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein isoform	205	Cytoplasmic (Potential).				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)	1						TCTGAGGGTGCCCTGCTGGAA	0.493												
ZNRD1	30834	broad.mit.edu	37	6	30030011	30030011	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:30030011G>A	uc003noz.2	+	4	407	c.257G>A	c.(256-258)CGC>CAC	p.R86H	NCRNA00171_uc011dme.1_5'Flank|NCRNA00171_uc003nox.1_5'Flank|NCRNA00171_uc003rto.2_5'Flank|ZNRD1_uc003npa.2_Missense_Mutation_p.R86H	NM_014596	NP_055411	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	86	TFIIS-type.					nucleolus	DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding				0						GTTGACAGGCGCTGCCCTCGA	0.542												
TRIM26	7726	broad.mit.edu	37	6	30153692	30153692	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:30153692C>T	uc003npr.2	-	9	1790	c.1581G>A	c.(1579-1581)TGG>TGA	p.W527*	TRIM26_uc003nps.2_Nonsense_Mutation_p.W527*|TRIM26_uc010jry.2_Nonsense_Mutation_p.W257*|TRIM26_uc003npt.2_Nonsense_Mutation_p.W527*	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	527	B30.2/SPRY.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GCCACTTGAGCCACAGGAAGG	0.577												
HLA-E	3133	broad.mit.edu	37	6	30457758	30457758	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:30457758A>G	uc003nqg.2	+	2	358	c.320A>G	c.(319-321)AAT>AGT	p.N107S	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.N148S	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	107	Alpha-1.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(4)|ovary(1)	5						GGCTACTACAATCAGAGCGAG	0.667												
SKIV2L	6499	broad.mit.edu	37	6	31928014	31928014	+	Missense_Mutation	SNP	C	C	T	rs146717555		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:31928014C>T	uc003nyn.1	+	4	643	c.254C>T	c.(253-255)ACG>ATG	p.T85M	RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	85						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CAGAGGAAGACGGATCCCTGG	0.517												
CYP21A2	1589	broad.mit.edu	37	6	32007841	32007841	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:32007841G>A	uc003nze.1	+	7	916	c.798G>A	c.(796-798)GCG>GCA	p.A266A	CYP21A2_uc003nzf.1_Silent_p.A236A	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	265					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						AAGGGGTGGCGCAGCCGAGCA	0.637												
TNXB	7148	broad.mit.edu	37	6	32017099	32017099	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:32017099G>A	uc003nzl.2	-	28	9901	c.9699C>T	c.(9697-9699)TAC>TAT	p.Y3233Y	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3280	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CGTGGAGGCCGTACAGATGCA	0.697												
TNXB	7148	broad.mit.edu	37	6	32017224	32017224	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:32017224C>T	uc003nzl.2	-	28	9776	c.9574G>A	c.(9574-9576)GAC>AAC	p.D3192N	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3239	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GTGAAGGAGTCGAAGCGGCCC	0.701												
RGL2	5863	broad.mit.edu	37	6	33261421	33261421	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:33261421G>A	uc003odv.2	-	14	1697	c.1564C>T	c.(1564-1566)CGG>TGG	p.R522W	RGL2_uc003odu.2_Missense_Mutation_p.R82W|RGL2_uc010jur.2_Missense_Mutation_p.R82W|RGL2_uc003odw.2_Missense_Mutation_p.R440W|RGL2_uc011drb.1_3'UTR	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	522					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						CGAAGCACCCGTGGGGCAGGA	0.572												
ITPR3	3710	broad.mit.edu	37	6	33631649	33631649	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:33631649C>T	uc011drk.1	+	11	1359	c.1140C>T	c.(1138-1140)TTC>TTT	p.F380F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	380	Cytoplasmic (Potential).|MIR 5.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CCGACTCTTTCGTGCCCCGGT	0.607												
ITPR3	3710	broad.mit.edu	37	6	33638232	33638232	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:33638232C>T	uc011drk.1	+	19	2539	c.2320C>T	c.(2320-2322)CGC>TGC	p.R774C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	774	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CTTTGACCTGCGCGCCTCCTT	0.622												
ITPR3	3710	broad.mit.edu	37	6	33641487	33641487	+	Silent	SNP	C	C	T	rs146528103	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:33641487C>T	uc011drk.1	+	23	3267	c.3048C>T	c.(3046-3048)TTC>TTT	p.F1016F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1016	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CCCCTGCCTTCGACTCTACCA	0.383												
GRM4	2914	broad.mit.edu	37	6	33995965	33995965	+	Missense_Mutation	SNP	G	G	A	rs146041340		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:33995965G>A	uc003oir.3	-	9	2791	c.2621C>T	c.(2620-2622)ACG>ATG	p.T874M	GRM4_uc011dsn.1_Missense_Mutation_p.T827M|GRM4_uc010jvh.2_Missense_Mutation_p.T874M|GRM4_uc010jvi.2_Missense_Mutation_p.T566M|GRM4_uc003oio.2_Missense_Mutation_p.T566M|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.T734M|GRM4_uc003oiq.2_Missense_Mutation_p.T741M|GRM4_uc011dsm.1_Missense_Mutation_p.T705M	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	874	Cytoplasmic (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GCCCTTCTGCGTGAACTTGTT	0.617												
C6orf138	442213	broad.mit.edu	37	6	47847178	47847178	+	Missense_Mutation	SNP	C	C	T	rs150590011		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:47847178C>T	uc011dwm.1	-	3	1436	c.1351G>A	c.(1351-1353)GTC>ATC	p.V451I	C6orf138_uc011dwn.1_Missense_Mutation_p.V215I	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	468	Helical; (Potential).					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						TAGAGGATGACAACAAATGGC	0.443												
CRISP1	167	broad.mit.edu	37	6	49806157	49806157	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:49806157T>G	uc003ozw.2	-	7	694	c.615A>C	c.(613-615)AAA>AAC	p.K205N	CRISP1_uc003ozx.2_Intron	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	205					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)					TACTGCAAAGTTTGTCTTCAC	0.363												
PKHD1	5314	broad.mit.edu	37	6	51613045	51613045	+	Silent	SNP	C	C	T	rs147206007		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:51613045C>T	uc003pah.1	-	58	9645	c.9369G>A	c.(9367-9369)GCG>GCA	p.A3123A	PKHD1_uc010jzn.1_Silent_p.A1106A|PKHD1_uc003pai.2_Silent_p.A3123A	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3123	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	p.A3123V(1)		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)					GACTTGAATGCGCCACATTGT	0.478												
HMGCLL1	54511	broad.mit.edu	37	6	55378846	55378846	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:55378846C>T	uc003pcn.2	-	6	791	c.632G>A	c.(631-633)GGG>GAG	p.G211E	HMGCLL1_uc003pco.2_Missense_Mutation_p.G181E|HMGCLL1_uc010jzx.2_Missense_Mutation_p.G82E|HMGCLL1_uc011dxc.1_Missense_Mutation_p.G149E|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Missense_Mutation_p.G149E	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	211							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCATAAGTACCCTCGTGCTGG	0.299												
COL9A1	1297	broad.mit.edu	37	6	71003924	71003924	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:71003924A>G	uc003pfg.3	-	5	801	c.642T>C	c.(640-642)ATT>ATC	p.I214I		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	214	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CAAAGCCATCAATGTCAATTG	0.398												
RIMS1	22999	broad.mit.edu	37	6	72596851	72596851	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:72596851G>A	uc003pga.2	+	1	202	c.125G>A	c.(124-126)CGG>CAG	p.R42Q		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	42	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTGATGGACCGGCAGAAGGAA	0.607												
COL12A1	1303	broad.mit.edu	37	6	75858174	75858174	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:75858174C>T	uc003phs.2	-	22	4353	c.4187G>A	c.(4186-4188)CGA>CAA	p.R1396Q	COL12A1_uc003pht.2_Missense_Mutation_p.R232Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1396	Fibronectin type-III 9.				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						ACGATGGGTTCGCTCAGAAAT	0.398												
ELOVL4	6785	broad.mit.edu	37	6	80656946	80656946	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:80656946C>T	uc003pja.3	-	1	370	c.51G>A	c.(49-51)ACG>ACA	p.T17T	ELOVL4_uc011dyt.1_RNA	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	elongation of very long chain fatty acids-like	17					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			ovary(1)|skin(1)	2		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CGTTGAGTGCCGTGGACACTA	0.657												
ANKRD6	22881	broad.mit.edu	37	6	90333701	90333701	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:90333701C>T	uc003pni.3	+	12	1484	c.1143C>T	c.(1141-1143)TCC>TCT	p.S381S	ANKRD6_uc003pne.3_Silent_p.S381S|ANKRD6_uc003pnf.3_Silent_p.S346S|ANKRD6_uc011dzy.1_Silent_p.S381S|ANKRD6_uc010kcd.2_Silent_p.S322S|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_5'UTR	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	381							protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GGTGTTCATCCCCACCCCCAC	0.547												
FHL5	9457	broad.mit.edu	37	6	97052726	97052726	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:97052726G>A	uc003pos.1	+	4	665	c.260G>A	c.(259-261)CGC>CAC	p.R87H	FHL5_uc003pot.1_Missense_Mutation_p.R87H	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	87	LIM zinc-binding 1.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AAGGATGAGCGCCTGCTGTGC	0.522												
C6orf167	253714	broad.mit.edu	37	6	97627291	97627291	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:97627291C>A	uc003ppb.2	-	17	2795	c.2529G>T	c.(2527-2529)GAG>GAT	p.E843D	C6orf167_uc011eaf.1_Missense_Mutation_p.E803D	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	843					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		TACCAACTGCCTCTTCCAGAT	0.358												
SIM1	6492	broad.mit.edu	37	6	100896062	100896062	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:100896062G>A	uc003pqj.3	-	7	1017	c.810C>T	c.(808-810)CAC>CAT	p.H270H	SIM1_uc010kcu.2_Silent_p.H270H	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	270	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGTCGCAGCCGTGCACATGGT	0.622												
GRIK2	2898	broad.mit.edu	37	6	102134229	102134229	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:102134229G>A	uc003pqp.3	+	6	1200	c.951_splice	c.e6+1	p.T317_splice	GRIK2_uc003pqn.2_Splice_Site_p.T317_splice|GRIK2_uc003pqo.3_Splice_Site_p.T317_splice|GRIK2_uc010kcw.2_Splice_Site_p.T317_splice	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2						glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATTTATGACGGTATGAATACC	0.378												
GRIK2	2898	broad.mit.edu	37	6	102483233	102483233	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:102483233G>A	uc003pqp.3	+	14	2352	c.2103G>A	c.(2101-2103)ACG>ACA	p.T701T	GRIK2_uc003pqo.3_Silent_p.T701T|GRIK2_uc010kcw.2_Silent_p.T701T	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	701	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAATCTCCACGTATGACAAAA	0.383												
SMPD2	6610	broad.mit.edu	37	6	109764884	109764884	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:109764884G>A	uc003pti.2	+	10	1442	c.1048G>A	c.(1048-1050)GCC>ACC	p.A350T	PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral	350	Helical; (Potential).				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TGGAGGAGGGGCCGGGGAAGC	0.617												
C6orf186	728464	broad.mit.edu	37	6	110636677	110636677	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:110636677C>T	uc010kdu.1	-	3	425	c.425G>A	c.(424-426)TGC>TAC	p.C142Y	C6orf186_uc003pub.2_Intron	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	chromosome 6 open reading frame 186 precursor	142						extracellular region					0						CATGTGATTGCATGCAATCTG	0.408												
REV3L	5980	broad.mit.edu	37	6	111694065	111694065	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:111694065G>A	uc003puy.3	-	13	5816	c.5493C>T	c.(5491-5493)GAC>GAT	p.D1831D	REV3L_uc003pux.3_Silent_p.D1753D|REV3L_uc003puz.3_Silent_p.D1753D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1831					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)		CACAGGCCACGTCTACAAGTT	0.423								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
FYN	2534	broad.mit.edu	37	6	112015695	112015695	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:112015695A>G	uc003pvj.2	-	11	1496	c.1156T>C	c.(1156-1158)TAT>CAT	p.Y386H	FYN_uc003pvi.2_Missense_Mutation_p.Y331H|FYN_uc003pvk.2_Missense_Mutation_p.Y386H|FYN_uc003pvh.2_Missense_Mutation_p.Y383H|FYN_uc010kdy.1_Missense_Mutation_p.Y77H	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	386	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CTATGGATATAATTCATGCGC	0.458												
NKAIN2	154215	broad.mit.edu	37	6	124979530	124979530	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:124979530G>A	uc003pzo.2	+	4	749	c.472G>A	c.(472-474)GCA>ACA	p.A158T	NKAIN2_uc003pzn.1_Missense_Mutation_p.A158T|NKAIN2_uc003pzp.2_Missense_Mutation_p.A157T|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Missense_Mutation_p.A68T	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	158	Helical; (Potential).					integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		GATTGTCCTCGCAGTAAGTGT	0.507												
NCOA7	135112	broad.mit.edu	37	6	126210197	126210197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:126210197C>T	uc010kes.2	+	11	1446	c.997C>T	c.(997-999)CGA>TGA	p.R333*	NCOA7_uc003qae.3_Nonsense_Mutation_p.R333*|NCOA7_uc003qah.2_Nonsense_Mutation_p.R322*|NCOA7_uc003qai.2_Nonsense_Mutation_p.R333*|NCOA7_uc010ket.2_Nonsense_Mutation_p.R218*	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	333					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAAGGAAAAACGACAGCAGAA	0.448												
PTPRK	5796	broad.mit.edu	37	6	128404958	128404958	+	Missense_Mutation	SNP	C	C	T	rs61756668	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:128404958C>T	uc003qbk.2	-	9	1844	c.1477G>A	c.(1477-1479)GTA>ATA	p.V493I	PTPRK_uc003qbj.2_Missense_Mutation_p.V493I|PTPRK_uc010kfc.2_Missense_Mutation_p.V493I|PTPRK_uc011ebu.1_Missense_Mutation_p.V493I|PTPRK_uc003qbl.1_Missense_Mutation_p.V363I|PTPRK_uc011ebv.1_Missense_Mutation_p.V493I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	493	Extracellular (Potential).|Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTTACTGGTACGGGACCAGGC	0.328												
AHI1	54806	broad.mit.edu	37	6	135811814	135811814	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:135811814G>A	uc003qgi.2	-	5	466	c.82C>T	c.(82-84)CGT>TGT	p.R28C	AHI1_uc003qgh.2_Missense_Mutation_p.R28C|AHI1_uc003qgj.2_Missense_Mutation_p.R28C|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.R28C	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	28	Potential.					adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTCTTTTCACGCATTAGATCA	0.343												
PEX7	5191	broad.mit.edu	37	6	137191048	137191048	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:137191048G>A	uc003qhd.2	+	7	756	c.654G>A	c.(652-654)GCG>GCA	p.A218A	PEX7_uc010kgx.2_RNA	NM_000288	NP_000279	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	218	WD 4.		A -> V (in RCDP1).		ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TGACCGGGGCGGTTGACTGTA	0.403												
KIAA1244	57221	broad.mit.edu	37	6	138655927	138655927	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:138655927G>A	uc003qhu.2	+	33	5944	c.5944G>A	c.(5944-5946)GGT>AGT	p.G1982S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1982					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCTGAAGGCCGGTGGTGGGGA	0.622												
HIVEP2	3097	broad.mit.edu	37	6	143094904	143094904	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:143094904C>A	uc003qjd.2	-	5	1715	c.972G>T	c.(970-972)AAG>AAT	p.K324N		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAATCGGCACCTTCATTGGAC	0.453												
PEX3	8504	broad.mit.edu	37	6	143793296	143793296	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:143793296G>T	uc003qjl.2	+	8	841	c.579_splice	c.e8-1	p.S193_splice	PEX3_uc011edx.1_Splice_Site_p.S193_splice	NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3						protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TCTGTTTCTAGTGTTTCTCTT	0.333												
FBXO30	84085	broad.mit.edu	37	6	146127127	146127127	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:146127127C>T	uc003qla.2	-	2	614	c.415G>A	c.(415-417)GCC>ACC	p.A139T	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	139							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATCATGGTGGCTACTTTGAGG	0.393												
PLEKHG1	57480	broad.mit.edu	37	6	151153303	151153303	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:151153303C>T	uc003qny.1	+	16	3368	c.3056C>T	c.(3055-3057)GCC>GTC	p.A1019V	PLEKHG1_uc011eel.1_Missense_Mutation_p.A1059V|PLEKHG1_uc011eem.1_Missense_Mutation_p.A1078V|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A1019V	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	1019					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GACCTGGCTGCCATCTTGGAA	0.502												
SYNE1	23345	broad.mit.edu	37	6	152529216	152529216	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:152529216G>A	uc010kiw.2	-	125	23317	c.22715C>T	c.(22714-22716)GCA>GTA	p.A7572V	SYNE1_uc010kiv.2_Missense_Mutation_p.A2096V|SYNE1_uc003qos.3_Missense_Mutation_p.A2096V|SYNE1_uc003qot.3_Missense_Mutation_p.A7501V|SYNE1_uc003qou.3_Missense_Mutation_p.A7572V|SYNE1_uc003qor.3_Missense_Mutation_p.A472V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7572	HAT 11.|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)		AAGCTTTTCTGCCATCTCCCT	0.532										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152623082	152623082	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:152623082G>A	uc010kiw.2	-	92	18065	c.17463C>T	c.(17461-17463)GTC>GTT	p.V5821V	SYNE1_uc010kiv.2_Silent_p.V345V|SYNE1_uc003qos.3_Silent_p.V345V|SYNE1_uc003qot.3_Silent_p.V5750V|SYNE1_uc003qou.3_Silent_p.V5821V|SYNE1_uc010kiy.1_Silent_p.V43V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5821	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)		CCAGCCCCTCGACCTCGGTCA	0.607										HNSCC(10;0.0054)		
FNDC1	84624	broad.mit.edu	37	6	159654490	159654490	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:159654490C>T	uc010kjv.2	+	11	3146	c.2946C>T	c.(2944-2946)CCC>CCT	p.P982P	FNDC1_uc010kjw.1_Silent_p.P867P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	982						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCGTCCGCCCGCAGCACGGT	0.667												
IGF2R	3482	broad.mit.edu	37	6	160479944	160479944	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:160479944G>A	uc003qta.2	+	22	3053	c.2905G>A	c.(2905-2907)GTC>ATC	p.V969I		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	969	7.|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)		GCAGTTTAATGTCTGCGGCAC	0.488												
SLC22A2	6582	broad.mit.edu	37	6	160679772	160679772	+	Silent	SNP	G	G	A	rs139039970		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:160679772G>A	uc003qtf.2	-	1	188	c.18C>T	c.(16-18)GAC>GAT	p.D6D	SLC22A2_uc003qte.1_Silent_p.D6D|SLC22A2_uc003qth.1_Silent_p.D6D	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	6	Cytoplasmic (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CCAGGACATCGTCCACGGTGG	0.617												
MLLT4	4301	broad.mit.edu	37	6	168363236	168363236	+	Missense_Mutation	SNP	G	G	A	rs150601242	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:168363236G>A	uc003qwd.2	+	31	5108	c.4966G>A	c.(4966-4968)GCT>ACT	p.A1656T	MLLT4_uc003qwc.1_Missense_Mutation_p.A1644T|MLLT4_uc003qwg.1_Missense_Mutation_p.A955T	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1646	Potential.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAAACGAGACGCTGAAGAAAA	0.552			T	MLL	AL							
WDR27	253769	broad.mit.edu	37	6	170089045	170089045	+	Silent	SNP	A	A	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:170089045A>T	uc003qwx.2	-	2	577	c.57T>A	c.(55-57)GTT>GTA	p.V19V	WDR27_uc010kkw.1_Silent_p.V19V|WDR27_uc003qwy.2_Silent_p.V19V|WDR27_uc011egw.1_RNA|WDR27_uc010kkx.2_Silent_p.V19V			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	19										pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ATTTTTCTATAACTATATCAC	0.383												
INTS1	26173	broad.mit.edu	37	7	1510813	1510813	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:1510813G>A	uc003skn.2	-	46	6404	c.6303C>T	c.(6301-6303)AAC>AAT	p.N2101N	INTS1_uc003skm.1_Silent_p.N238N	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	2101					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGAAGGCGAGGTTGCGGCAAC	0.687												
INTS1	26173	broad.mit.edu	37	7	1535864	1535864	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:1535864C>T	uc003skn.2	-	12	1740	c.1639G>A	c.(1639-1641)GTG>ATG	p.V547M	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	547					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCATGGACACGGCCAGGACG	0.642												
SDK1	221935	broad.mit.edu	37	7	4056923	4056923	+	Silent	SNP	G	G	A	rs144372494		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:4056923G>A	uc003smx.2	+	17	2680	c.2541G>A	c.(2539-2541)GCG>GCA	p.A847A	SDK1_uc010kso.2_Silent_p.A123A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	847	Fibronectin type-III 2.				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)		AGGTGGCGGCGTACAACGGGG	0.587												
TNRC18	84629	broad.mit.edu	37	7	5427872	5427872	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:5427872G>A	uc003soi.3	-	5	1932	c.1583C>T	c.(1582-1584)GCG>GTG	p.A528V	TNRC18_uc010ksx.1_Missense_Mutation_p.A454V	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	528							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTGGTGCTGCGCGGCCAGCAC	0.721												
RNF216	54476	broad.mit.edu	37	7	5662686	5662686	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:5662686G>A	uc003soy.1	-	17	2596	c.2406C>T	c.(2404-2406)TTC>TTT	p.F802F	RNF216_uc010ksz.1_Silent_p.F424F|RNF216_uc010kta.1_Silent_p.F424F|RNF216_uc011jwj.1_Silent_p.F424F|RNF216_uc003sox.1_Silent_p.F859F	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	802	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GTGGGTGCGCGAAGGCATAGG	0.667												
DAGLB	221955	broad.mit.edu	37	7	6449906	6449906	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:6449906G>T	uc003sqa.2	-	14	1845	c.1675C>A	c.(1675-1677)CTT>ATT	p.L559I	DAGLB_uc003spy.2_Missense_Mutation_p.L105I|DAGLB_uc003spz.2_Missense_Mutation_p.L256I|DAGLB_uc011jwt.1_Missense_Mutation_p.L373I|DAGLB_uc011jwu.1_Missense_Mutation_p.L430I|DAGLB_uc003sqb.2_Missense_Mutation_p.L278I|DAGLB_uc003sqc.2_Missense_Mutation_p.L278I|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.L518I	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	559	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)		TCCCCCAGAAGAGGCTGTGTC	0.612												
COL28A1	340267	broad.mit.edu	37	7	7493103	7493103	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:7493103C>A	uc003src.1	-	17	1525	c.1408G>T	c.(1408-1410)GGG>TGG	p.G470W	COL28A1_uc011jxe.1_Missense_Mutation_p.G153W|COL28A1_uc003srd.2_Missense_Mutation_p.G25W	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	470					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTGCGGGCCCTTGTGGACCA	0.383												
HOXA5	3202	broad.mit.edu	37	7	27181657	27181657	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:27181657G>A	uc003syn.1	-	2	671	c.610C>T	c.(610-612)CGC>TGC	p.R204C		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	204	Homeobox.				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GTCTGGTAGCGCGTGTAGGCC	0.557											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CHN2	1124	broad.mit.edu	37	7	29438071	29438071	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:29438071C>T	uc003szz.2	+	5	696	c.259C>T	c.(259-261)CGG>TGG	p.R87W	CHN2_uc011jzs.1_Missense_Mutation_p.R162W|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.R52W|CHN2_uc011jzt.1_Missense_Mutation_p.R100W|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Missense_Mutation_p.R72W	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	87	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						AGAAAGCCAGCGGCAACCAGG	0.507												
INMT	11185	broad.mit.edu	37	7	30795440	30795440	+	Silent	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:30795440T>C	uc003tbs.1	+	3	781	c.765T>C	c.(763-765)ATT>ATC	p.I255I	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.I254I	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	255						cytoplasm	amine N-methyltransferase activity				0						TCTGCTTCATTGTGGCTCGCA	0.512												
NEUROD6	63974	broad.mit.edu	37	7	31377947	31377947	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:31377947G>A	uc003tch.2	-	2	1289	c.936C>T	c.(934-936)AGC>AGT	p.S312S		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	312					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)	2						AAGGGAAGTGGCTGTCGGTGG	0.448												
CCDC129	223075	broad.mit.edu	37	7	31682655	31682655	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:31682655A>G	uc003tcj.1	+	11	2664	c.1671A>G	c.(1669-1671)ACA>ACG	p.T557T	CCDC129_uc011kad.1_Silent_p.T567T|CCDC129_uc003tci.1_Silent_p.T408T|CCDC129_uc011kae.1_Silent_p.T583T|CCDC129_uc003tck.1_Silent_p.T465T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	557											0						CCAGACCCACAGCCACTTCCA	0.532												
KBTBD2	25948	broad.mit.edu	37	7	32909836	32909836	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:32909836T>G	uc003tdb.2	-	4	1652	c.993A>C	c.(991-993)AAA>AAC	p.K331N	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	331	Kelch 1.										0			GBM - Glioblastoma multiforme(11;0.0499)			TGTGATTTGTTTTTGTGTTTT	0.408												
NPSR1	387129	broad.mit.edu	37	7	34917755	34917755	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:34917755G>T	uc003tei.1	+	9	1221	c.1093G>T	c.(1093-1095)GGT>TGT	p.G365C	NPSR1_uc010kww.1_Missense_Mutation_p.G354C|NPSR1_uc011kar.1_Missense_Mutation_p.G299C	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	Error:Variant_position_missing_in_Q6W5P4_after_alignment						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	GAACTGGAAGGGTACTTGGCC	0.557												
CDK13	8621	broad.mit.edu	37	7	40118358	40118358	+	Silent	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:40118358T>C	uc003thh.3	+	11	3219	c.2937T>C	c.(2935-2937)CTT>CTC	p.L979L	CDK13_uc003thi.3_Silent_p.L979L|CDK13_uc003thj.2_Silent_p.L30L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	979	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						ATTACATGCTTGCCTTGGATC	0.443												
NPC1L1	29881	broad.mit.edu	37	7	44556854	44556854	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:44556854A>G	uc003tlb.2	-	16	3376	c.3320T>C	c.(3319-3321)CTG>CCG	p.L1107P	NPC1L1_uc003tlc.2_Missense_Mutation_p.L1080P|NPC1L1_uc011kbw.1_Missense_Mutation_p.L1034P|NPC1L1_uc003tla.2_Missense_Mutation_p.L83P	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1107	Cytoplasmic (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)	CACTTTCCGCAGGTCAGCAGT	0.577												
NPC1L1	29881	broad.mit.edu	37	7	44573082	44573082	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:44573082A>G	uc003tlb.2	-	8	2413	c.2357T>C	c.(2356-2358)CTG>CCG	p.L786P	NPC1L1_uc003tlc.2_Missense_Mutation_p.L786P|NPC1L1_uc011kbw.1_Missense_Mutation_p.L786P|NPC1L1_uc003tld.2_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	786	Helical; Name=7; (Potential).|SSD.				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)	TGACATCTGCAGGAGGAAGTC	0.642												
VSTM2A	222008	broad.mit.edu	37	7	54617746	54617746	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:54617746C>T	uc010kzf.2	+	4	922	c.517C>T	c.(517-519)CGC>TGC	p.R173C	VSTM2A_uc010kze.2_Missense_Mutation_p.R173C|VSTM2A_uc003tqc.3_Missense_Mutation_p.R173C	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2	173						extracellular region					0			STAD - Stomach adenocarcinoma(5;0.0525)			TATGAAGCCCCGCAAGAACGT	0.587												
PCLO	27445	broad.mit.edu	37	7	82430834	82430834	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:82430834C>T	uc003uhx.2	-	22	15296	c.15007G>A	c.(15007-15009)GCT>ACT	p.A5003T		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4926					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTTTACTTACCTTCAGTGTCT	0.333												
AKAP9	10142	broad.mit.edu	37	7	91726523	91726523	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:91726523G>A	uc003ulg.2	+	41	10475	c.10250G>A	c.(10249-10251)CGC>CAC	p.R3417H	AKAP9_uc003ulf.2_Missense_Mutation_p.R3409H|AKAP9_uc003uli.2_Missense_Mutation_p.R3040H|AKAP9_uc003ulj.2_Missense_Mutation_p.R1187H|AKAP9_uc003ull.2_Missense_Mutation_p.R313H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3421	Potential.				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)			GATCTTCAGCGCCAGCTGGAA	0.458			T	BRAF	papillary thyroid							
TFPI2	7980	broad.mit.edu	37	7	93518426	93518426	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:93518426G>A	uc003umy.1	-	3	456	c.381C>T	c.(379-381)TCC>TCT	p.S127S	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.S127S|TFPI2_uc003una.1_Silent_p.S116S|TFPI2_uc003unb.1_Silent_p.S127S|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	127	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GACACCCACCGGAAAAGAATT	0.438												
ASB4	51666	broad.mit.edu	37	7	95157219	95157219	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:95157219C>T	uc011kij.1	+	3	582	c.582C>T	c.(580-582)TAC>TAT	p.Y194Y	ASB4_uc003unx.2_Silent_p.Y194Y	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	194	ANK 4.				intracellular signal transduction					central_nervous_system(1)	1	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TGGCCTTCTACGTGGAACACG	0.592											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DLX6	1750	broad.mit.edu	37	7	96639257	96639257	+	Silent	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:96639257G>T	uc003uom.2	+	4	696	c.696G>T	c.(694-696)TCG>TCT	p.S232S	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	142					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TTTCTGCCTCGGCCAAGGGTG	0.617												
TRRAP	8295	broad.mit.edu	37	7	98608683	98608683	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:98608683C>T	uc003upp.2	+	70	11114	c.10905C>T	c.(10903-10905)CGC>CGT	p.R3635R	TRRAP_uc011kis.1_Silent_p.R3606R|TRRAP_uc003upr.2_Silent_p.R3341R|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3635	PI3K/PI4K.				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)			AGGTCCTCCGCGACATCCTCA	0.502												
PVRIG	79037	broad.mit.edu	37	7	99818409	99818409	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:99818409G>A	uc003uue.2	+	6	995	c.623G>A	c.(622-624)CGC>CAC	p.R208H	GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|GATS_uc011kjl.1_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Missense_Mutation_p.R208H	NM_024070	NP_076975	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin	208						integral to membrane				skin(2)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCGTCCCGCACCAGCCCC	0.697												
GATS	352954	broad.mit.edu	37	7	99821311	99821311	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:99821311C>T	uc003uua.3	-	4	671	c.422G>A	c.(421-423)CGG>CAG	p.R141Q	GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc011kjl.1_5'Flank|GATS_uc010lgu.2_RNA	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	141											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCAGGTCCCGCTTGAGCAC	0.602												
SLC12A9	56996	broad.mit.edu	37	7	100456716	100456716	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:100456716G>A	uc003uwp.2	+	7	1052	c.910G>A	c.(910-912)GTC>ATC	p.V304I	SLC12A9_uc003uwq.2_Missense_Mutation_p.V215I|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Missense_Mutation_p.V40I|SLC12A9_uc003uws.2_Intron|SLC12A9_uc003uwt.2_Missense_Mutation_p.V40I|SLC12A9_uc003uwv.2_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	304	Helical; (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGCACGATCGTCGCCGTCGC	0.627												
SH2B2	10603	broad.mit.edu	37	7	101944461	101944461	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:101944461C>T	uc011kko.1	+	2	801	c.756C>T	c.(754-756)GCC>GCT	p.A252A		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	209	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						ACGACGCGGCCGCGGGCTCCG	0.721												
ORAI2	80228	broad.mit.edu	37	7	102087007	102087007	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:102087007G>A	uc010lhz.1	+	4	508	c.273G>A	c.(271-273)CGG>CGA	p.R91R	ORAI2_uc003uzj.2_Silent_p.R91R|ORAI2_uc003uzk.2_Silent_p.R91R|ORAI2_uc011kks.1_Silent_p.R14R	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	91						integral to membrane	protein binding			ovary(1)|kidney(1)	2						AGTACCCGCGGCCGCTGCTGA	0.662												
SRPK2	6733	broad.mit.edu	37	7	104783701	104783701	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:104783701C>T	uc003vct.2	-	9	1044	c.857G>A	c.(856-858)CGC>CAC	p.R286H	SRPK2_uc003vcu.2_Missense_Mutation_p.R286H|SRPK2_uc003vcv.2_Missense_Mutation_p.R297H|SRPK2_uc003vcw.1_Missense_Mutation_p.R286H	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	286	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTCCTGCAGGCGCTTCTCCAA	0.398												
PUS7	54517	broad.mit.edu	37	7	105148680	105148680	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:105148680C>T	uc003vcx.2	-	2	499	c.280G>A	c.(280-282)GAG>AAG	p.E94K	PUS7_uc010lji.2_Missense_Mutation_p.E94K|PUS7_uc003vcy.2_Missense_Mutation_p.E94K|PUS7_uc003vcz.1_Missense_Mutation_p.E94K	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	94					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						TCCTCCTCCTCGCACTCCTCT	0.493												
LAMB1	3912	broad.mit.edu	37	7	107621183	107621183	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:107621183G>A	uc003vew.2	-	8	1085	c.750C>T	c.(748-750)TCC>TCT	p.S250S	LAMB1_uc003vev.2_Silent_p.S274S|LAMB1_uc003vex.2_Silent_p.S250S|LAMB1_uc010ljn.1_Silent_p.S336S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	250	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTCCATCCTGGAATCCAGAA	0.383												
DOCK4	9732	broad.mit.edu	37	7	111430583	111430583	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:111430583C>T	uc003vfx.2	-	31	3514	c.3245G>A	c.(3244-3246)CGG>CAG	p.R1082Q	DOCK4_uc011kmm.1_5'Flank|DOCK4_uc003vfw.2_Missense_Mutation_p.R523Q|DOCK4_uc003vfy.2_Missense_Mutation_p.R1118Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1082					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CATGACATTCCGAAGATCTGG	0.458												
TES	26136	broad.mit.edu	37	7	115892010	115892010	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:115892010G>A	uc003vho.2	+	5	1080	c.899G>A	c.(898-900)CGA>CAA	p.R300Q	TES_uc011kmy.1_Missense_Mutation_p.R58Q|TES_uc003vhp.2_Missense_Mutation_p.R291Q|uc003vhq.1_5'Flank	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	testin isoform 1	300	LIM zinc-binding 2.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding				0	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GAGAAACCCCGATGTGCTGGC	0.493												
RNF148	378925	broad.mit.edu	37	7	122342061	122342061	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:122342061A>G	uc003vkk.1	-	1	961	c.744T>C	c.(742-744)GAT>GAC	p.D248D	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_3'UTR	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	248						integral to membrane	zinc ion binding				0						CTAATTCCTCATCCCCTTCTT	0.398												
CCDC136	64753	broad.mit.edu	37	7	128445885	128445885	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:128445885G>A	uc003vnv.1	+	7	1386	c.1019G>A	c.(1018-1020)CGG>CAG	p.R340Q	CCDC136_uc003vnu.1_Missense_Mutation_p.R378Q|CCDC136_uc003vnw.1_Missense_Mutation_p.R340Q|CCDC136_uc003vnx.1_Missense_Mutation_p.R156Q|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	340						integral to membrane	protein binding			ovary(2)	2						GAGCAGAGGCGGCTGCAGAGG	0.557												
LRGUK	136332	broad.mit.edu	37	7	133884088	133884088	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:133884088A>G	uc003vrm.1	+	14	1678	c.1662A>G	c.(1660-1662)GAA>GAG	p.E554E		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	554	Guanylate kinase-like.						ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						GTCGTGCAGAAATTGAATTTG	0.363												
KIAA1549	57670	broad.mit.edu	37	7	138601707	138601707	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:138601707C>T	uc011kql.1	-	2	2714	c.2665G>A	c.(2665-2667)GGT>AGT	p.G889S	KIAA1549_uc003vuk.3_Missense_Mutation_p.G839S|KIAA1549_uc011kqj.1_Missense_Mutation_p.G889S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	889						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						GTGGCAGCACCGGTGCTGGTT	0.652			O	BRAF	pilocytic astrocytoma							
KLRG2	346689	broad.mit.edu	37	7	139168284	139168284	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:139168284G>A	uc003vvb.2	-	1	174	c.105C>T	c.(103-105)CCC>CCT	p.P35P	KLRG2_uc010lnc.2_Silent_p.P35P	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	35	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					GCACCTTCGCGGGCACCTGCG	0.701												
ZNF777	27153	broad.mit.edu	37	7	149129302	149129302	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:149129302C>T	uc003wfv.2	-	6	2224	c.2061G>A	c.(2059-2061)GCG>GCA	p.A687A		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CATGCTTGCCCGCGTGCACGC	0.652												
ZNF467	168544	broad.mit.edu	37	7	149463221	149463221	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:149463221C>T	uc003wgd.2	-	5	511	c.370G>A	c.(370-372)GCG>ACG	p.A124T	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGTCAGGCGCGGGAAAGGGG	0.642												
SSPO	23145	broad.mit.edu	37	7	149512418	149512418	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:149512418G>A	uc010lpk.2	+	76	10738	c.10738G>A	c.(10738-10740)GTG>ATG	p.V3580M		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3580					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGCTGTGCGTGCCCCCAGC	0.711												
ZNF862	643641	broad.mit.edu	37	7	149559477	149559477	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:149559477G>A	uc010lpn.2	+	7	3420	c.3228G>A	c.(3226-3228)ACG>ACA	p.T1076T	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	1076					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						TGGCCGTCACGGAGTACGACC	0.617												
ABCB8	11194	broad.mit.edu	37	7	150739088	150739088	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:150739088G>A	uc003wil.3	+	15	1802	c.1709G>A	c.(1708-1710)CGC>CAC	p.R570H	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Missense_Mutation_p.R553H|ABCB8_uc011kvd.1_Missense_Mutation_p.R465H|ABCB8_uc003wim.3_Missense_Mutation_p.R348H|ABCB8_uc003wik.3_Missense_Mutation_p.R553H	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	570	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)		GAAAACATCCGCTTTGGGAAG	0.547												
NUB1	51667	broad.mit.edu	37	7	151057316	151057316	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:151057316C>T	uc003wjx.2	+	8	860	c.855C>T	c.(853-855)GAC>GAT	p.D285D	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Silent_p.D261D|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_RNA|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	261					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTCTGTTGGACGCTGACAAAT	0.448												
NUB1	51667	broad.mit.edu	37	7	151072987	151072987	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:151072987C>T	uc003wjx.2	+	13	1526	c.1521C>T	c.(1519-1521)ACC>ACT	p.T507T	NUB1_uc003wjw.2_Silent_p.T469T|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	483					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATCCTGAAACCGACAACCGTC	0.498												
MLL3	58508	broad.mit.edu	37	7	151874710	151874710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:151874710G>A	uc003wla.2	-	38	8047	c.7828C>T	c.(7828-7830)CGA>TGA	p.R2610*	MLL3_uc003wkz.2_Nonsense_Mutation_p.R1671*|MLL3_uc003wky.2_Nonsense_Mutation_p.R119*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2610	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)		TGGGGAGGTCGTCGCATGGGG	0.527			N		medulloblastoma							
ARHGEF10	9639	broad.mit.edu	37	8	1857614	1857614	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:1857614C>T	uc003wpr.2	+	18	2299	c.2121C>T	c.(2119-2121)GCC>GCT	p.A707A	ARHGEF10_uc003wpq.1_Silent_p.A731A|ARHGEF10_uc003wps.2_Silent_p.A669A|ARHGEF10_uc003wpv.2_Silent_p.A440A|ARHGEF10_uc010lre.2_Silent_p.A387A	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	732					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGAGCCTGGCCGTGGTTGCTA	0.622												
SGK223	157285	broad.mit.edu	37	8	8235027	8235027	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:8235027C>T	uc003wsh.3	-	2	892	c.892G>A	c.(892-894)GCA>ACA	p.A298T		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	298							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TCCTGCTCTGCGGGCCCGGAA	0.677												
PRSS55	203074	broad.mit.edu	37	8	10388924	10388924	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:10388924A>G	uc003wta.2	+	3	482	c.467A>G	c.(466-468)GAC>GGC	p.D156G	uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	156	Extracellular (Potential).|Peptidase S1.	Charge relay system (By similarity).			proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						ATGGACAATGACATTGCCTTG	0.557												
C8orf74	203076	broad.mit.edu	37	8	10557880	10557880	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:10557880C>A	uc003wtd.1	+	4	813	c.784C>A	c.(784-786)CCC>ACC	p.P262T	C8orf74_uc003wte.1_RNA	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	hypothetical protein LOC203076	262											0				COAD - Colon adenocarcinoma(149;0.0811)		CCTCAACGCCCCCACCCCTAT	0.587												
EFHA2	286097	broad.mit.edu	37	8	16884801	16884801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:16884801C>T	uc003wxd.2	+	1	55	c.13C>T	c.(13-15)CGA>TGA	p.R5*		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	5						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GGCTGCGCTGCGAAGGCTCTT	0.627												
EFHA2	286097	broad.mit.edu	37	8	16884877	16884877	+	Missense_Mutation	SNP	G	G	A	rs2705203		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:16884877G>A	uc003wxd.2	+	1	131	c.89G>A	c.(88-90)CGG>CAG	p.R30Q		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	30						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		CCGTGGGGGCGGCCTGCGGTG	0.587												
ASAH1	427	broad.mit.edu	37	8	17919227	17919227	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:17919227T>C	uc003wyl.2	-	9	983	c.671A>G	c.(670-672)AAT>AGT	p.N224S	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.N199S|ASAH1_uc003wyn.2_Missense_Mutation_p.N240S|ASAH1_uc003wyo.2_Missense_Mutation_p.N218S	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	224					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		GAAACGTTCATTCAGTGTAAG	0.438												
SORBS3	10174	broad.mit.edu	37	8	22428685	22428685	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:22428685G>A	uc003xbv.2	+	18	2034	c.1694G>A	c.(1693-1695)CGT>CAT	p.R565H	SORBS3_uc003xbw.3_Missense_Mutation_p.R223H	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	565					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACCTCCCCCCGTCGCACTGGC	0.697												
PDLIM2	64236	broad.mit.edu	37	8	22438965	22438965	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:22438965G>A	uc003xby.2	+	3	567	c.167G>A	c.(166-168)AGC>AAC	p.S56N	PDLIM2_uc003xbx.1_Missense_Mutation_p.S56N|PDLIM2_uc003xbz.2_Missense_Mutation_p.S56N|PDLIM2_uc003xca.2_Missense_Mutation_p.S56N|PDLIM2_uc003xcb.2_Missense_Mutation_p.S56N|PDLIM2_uc003xcc.1_Missense_Mutation_p.S56N	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 2	56	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AACGGGGAAAGCGCGGAGGGC	0.672												
EGR3	1960	broad.mit.edu	37	8	22548299	22548299	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:22548299C>T	uc003xcm.1	-	2	1209	c.851G>A	c.(850-852)CGC>CAC	p.R284H	EGR3_uc011kzn.1_Missense_Mutation_p.R246H|EGR3_uc011kzo.1_Missense_Mutation_p.R230H	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	284	C2H2-type 1.				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GCTGAAACGGCGGTCGCAGCC	0.697												
CLU	1191	broad.mit.edu	37	8	27461863	27461863	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:27461863C>T	uc003xfw.1	-	5	937	c.879G>A	c.(877-879)ACG>ACA	p.T293T	CLU_uc010lux.1_Silent_p.T158T|CLU_uc003xfx.1_Silent_p.T293T|CLU_uc003xfy.1_Silent_p.T304T|CLU_uc003xfz.1_Silent_p.T345T	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	293					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GCAGGCAGCCCGTGGAGTTGT	0.612												
HMBOX1	79618	broad.mit.edu	37	8	28902933	28902933	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:28902933G>A	uc003xhd.3	+	7	1249	c.907G>A	c.(907-909)GCT>ACT	p.A303T	HMBOX1_uc010lvd.2_Missense_Mutation_p.A303T|HMBOX1_uc003xhc.3_Missense_Mutation_p.A303T|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.A303T|HMBOX1_uc011lay.1_Missense_Mutation_p.A303T|HMBOX1_uc003xhf.2_Missense_Mutation_p.A291T|HMBOX1_uc003xhg.2_Missense_Mutation_p.A291T	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	303	Homeobox.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		AATTGCAAACGCTTGCAATGC	0.458												
WRN	7486	broad.mit.edu	37	8	30949415	30949415	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:30949415G>A	uc003xio.3	+	16	2686	c.1898_splice	c.e16+1	p.L633_splice	WRN_uc010lvk.2_Splice_Site_p.L100_splice	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein						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)		ATATTAAATTGTGAGTAAttt	0.214			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
WRN	7486	broad.mit.edu	37	8	30969237	30969237	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:30969237G>A	uc003xio.3	+	19	2983	c.2195G>A	c.(2194-2196)CGA>CAA	p.R732Q	WRN_uc010lvk.2_Missense_Mutation_p.R199Q	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	732					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)		GGTTTTGATCGACCAAACCTG	0.403			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
NRG1	3084	broad.mit.edu	37	8	31498176	31498176	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:31498176T>C	uc003xip.2	+	1	909	c.676T>C	c.(676-678)TCT>CCT	p.S226P		NM_013962	NP_039256	Q02297	NRG1_HUMAN	neuregulin 1 isoform GGF2	Error:Variant_position_missing_in_Q02297_after_alignment					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTTCCGAGCCTCTTTCCCCCC	0.672												
C8orf41	80185	broad.mit.edu	37	8	33367395	33367395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:33367395G>A	uc003xjl.3	-	2	1228	c.703C>T	c.(703-705)CAG>TAG	p.Q235*	C8orf41_uc003xjk.3_Nonsense_Mutation_p.Q235*|C8orf41_uc010lvv.2_Nonsense_Mutation_p.Q235*|C8orf41_uc003xjm.3_Nonsense_Mutation_p.Q235*|C8orf41_uc003xjn.1_Nonsense_Mutation_p.Q235*	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	235							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CGAGTGACCTGTTGCAGAGTC	0.443												
ADAM9	8754	broad.mit.edu	37	8	38912090	38912090	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:38912090C>T	uc003xmr.2	+	13	1471	c.1393C>T	c.(1393-1395)CGG>TGG	p.R465W	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_5'Flank	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	465	Extracellular (Potential).|Disintegrin.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TAAAGACTGTCGGGTAAGGAA	0.358												
ANK1	286	broad.mit.edu	37	8	41581130	41581130	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:41581130T>C	uc003xok.2	-	8	817	c.733A>G	c.(733-735)ATC>GTC	p.I245V	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.I245V|ANK1_uc003xoj.2_Missense_Mutation_p.I245V|ANK1_uc003xol.2_Missense_Mutation_p.I245V|ANK1_uc003xom.2_Missense_Mutation_p.I278V	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	245	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGGGAGGCGATGTGCAGTGGC	0.632												
ANK1	286	broad.mit.edu	37	8	41583342	41583342	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:41583342G>A	uc003xok.2	-	6	633	c.549C>T	c.(547-549)AAC>AAT	p.N183N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.N183N|ANK1_uc003xoj.2_Silent_p.N183N|ANK1_uc003xol.2_Silent_p.N183N|ANK1_uc003xom.2_Silent_p.N216N	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	183	ANK 5.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGTGTCGTCGTTGCGGGCCG	0.687												
IKBKB	3551	broad.mit.edu	37	8	42166502	42166502	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:42166502G>A	uc003xow.1	+	8	828	c.651G>A	c.(649-651)ACG>ACA	p.T217T	IKBKB_uc003xov.2_Silent_p.T217T|IKBKB_uc010lxh.1_Silent_p.T112T|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.T215T|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.T158T	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	217	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGTGCATCACGGGCTTCCGGC	0.632												
VDAC3	7419	broad.mit.edu	37	8	42262421	42262421	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:42262421T>C	uc011lct.1	+	9	882	c.739T>C	c.(739-741)TAT>CAT	p.Y247H	VDAC3_uc003xpc.2_Missense_Mutation_p.Y248H	NM_005662	NP_005653	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3 isoform b	247	Beta stranded; (By similarity).				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			upper_aerodigestive_tract(1)	1	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TGGACTGGGTTATACTCAGAC	0.378												
PXDNL	137902	broad.mit.edu	37	8	52321537	52321537	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:52321537C>T	uc003xqu.3	-	17	2748	c.2647G>A	c.(2647-2649)GCA>ACA	p.A883T	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	883					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCTCTCGTGCATAGACTGAA	0.662												
ST18	9705	broad.mit.edu	37	8	53077775	53077775	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:53077775C>T	uc003xqz.2	-	7	1371	c.1215G>A	c.(1213-1215)ATG>ATA	p.M405I	ST18_uc011ldq.1_Missense_Mutation_p.M52I|ST18_uc011ldr.1_Missense_Mutation_p.M370I|ST18_uc011lds.1_Missense_Mutation_p.M310I|ST18_uc003xra.2_Missense_Mutation_p.M405I|ST18_uc003xrb.2_Missense_Mutation_p.M405I	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	405						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)				CATTTTCATGCATGGCAAGAA	0.413												
OPRK1	4986	broad.mit.edu	37	8	54163462	54163462	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:54163462C>G	uc003xrh.1	-	1	511	c.136G>C	c.(136-138)GAC>CAC	p.D46H	OPRK1_uc003xri.1_Missense_Mutation_p.D46H|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	46	Extracellular (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGCTGCGCGTCCTCCGAGCCG	0.716												
XKR4	114786	broad.mit.edu	37	8	56015092	56015092	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:56015092G>T	uc003xsf.2	+	1	76	c.44G>T	c.(43-45)AGC>ATC	p.S15I		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	15						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			AAGAAAAGCAGCGACGTGGCG	0.607												
PLAG1	5324	broad.mit.edu	37	8	57079206	57079206	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:57079206C>T	uc003xsq.3	-	3	1550	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	PLAG1_uc003xsr.3_Missense_Mutation_p.V367M|PLAG1_uc010lyi.2_Missense_Mutation_p.V367M|PLAG1_uc010lyj.2_Missense_Mutation_p.V285M	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	367	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAAGAGGGCACGCCACCTTGT	0.458			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma							
CA8	767	broad.mit.edu	37	8	61137128	61137128	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:61137128A>G	uc003xtz.1	-	6	841	c.593T>C	c.(592-594)ATA>ACA	p.I198T	CA8_uc003xua.1_Missense_Mutation_p.I198T	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	198					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				AAAGCAAGGTATTGTTTTGGA	0.269												
VCPIP1	80124	broad.mit.edu	37	8	67577032	67577032	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:67577032G>A	uc003xwn.2	-	1	2421	c.2162C>T	c.(2161-2163)ACG>ATG	p.T721M	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	721					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AGCCTGTTCCGTAATATTCTG	0.378												
JPH1	56704	broad.mit.edu	37	8	75227597	75227597	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:75227597C>T	uc003yae.2	-	2	678	c.638G>A	c.(637-639)CGG>CAG	p.R213Q	JPH1_uc003yaf.2_Missense_Mutation_p.R213Q|JPH1_uc003yag.1_Missense_Mutation_p.R77Q	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	213	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGAGCCCCTCCGGAAGAGGCC	0.652												
ZFHX4	79776	broad.mit.edu	37	8	77775852	77775852	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:77775852C>A	uc003yav.2	+	11	10154	c.9767C>A	c.(9766-9768)CCT>CAT	p.P3256H		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3252						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)			CCTTATGGCCCTACAATGCCC	0.403										HNSCC(33;0.089)		
PEX2	5828	broad.mit.edu	37	8	77895873	77895873	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:77895873T>C	uc003yax.2	-	4	1000	c.542A>G	c.(541-543)CAA>CGA	p.Q181R	PEX2_uc003yay.2_Missense_Mutation_p.Q181R|PEX2_uc003yaz.2_Missense_Mutation_p.Q181R	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	181					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1						ACATATGTTTTGAGGCTTGCA	0.373												
RALYL	138046	broad.mit.edu	37	8	85799874	85799874	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:85799874C>T	uc003ycq.3	+	9	1137	c.721C>T	c.(721-723)CTG>TTG	p.L241L	RALYL_uc003ycr.3_Silent_p.L241L|RALYL_uc003ycs.3_Silent_p.L241L|RALYL_uc010lzy.2_Silent_p.L230L|RALYL_uc003yct.3_Silent_p.L254L|RALYL_uc003ycu.3_Silent_p.L168L|RALYL_uc003ycv.3_Intron	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	241	Potential.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						GAGTCTAGTGCTGATCCAAGA	0.493												
SLC7A13	157724	broad.mit.edu	37	8	87242019	87242019	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:87242019C>T	uc003ydq.1	-	1	586	c.488G>A	c.(487-489)AGC>AAC	p.S163N	SLC7A13_uc003ydr.1_Missense_Mutation_p.S163N	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	163	Helical; Name=5; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						CAGCACTGAGCTAGCTATCTG	0.433												
CNGB3	54714	broad.mit.edu	37	8	87590929	87590929	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:87590929C>A	uc003ydx.2	-	17	2137	c.2091G>T	c.(2089-2091)GAG>GAT	p.E697D	CNGB3_uc010maj.2_Missense_Mutation_p.E554D	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	697	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GAGCTGCTTGCTCTCGCTTCA	0.463												
TMEM64	169200	broad.mit.edu	37	8	91637965	91637965	+	Silent	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:91637965G>T	uc003yen.2	-	3	1077	c.1077C>A	c.(1075-1077)ACC>ACA	p.T359T	TMEM64_uc003yeo.2_Silent_p.T98T|TMEM64_uc011lgf.1_Silent_p.T307T	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	transmembrane protein 64 isoform 1	359						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(11;0.0598)			AAGAGCCACTGGTATTTGGTT	0.388												
TSPYL5	85453	broad.mit.edu	37	8	98289974	98289974	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:98289974C>T	uc003yhy.2	-	1	203	c.99G>A	c.(97-99)CCG>CCA	p.P33P		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	33					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					CCGGGTCGCGCGGGGCGTCGT	0.711												
TSPYL5	85453	broad.mit.edu	37	8	98290067	98290067	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:98290067G>A	uc003yhy.2	-	1	110	c.6C>T	c.(4-6)AGC>AGT	p.S2S		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	2					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					GACTTCGGCCGCTCATGGTGG	0.706												
FBXO43	286151	broad.mit.edu	37	8	101146558	101146558	+	Missense_Mutation	SNP	C	C	T	rs77680502	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:101146558C>T	uc003yjd.2	-	4	2422	c.1709G>A	c.(1708-1710)CGG>CAG	p.R570Q	FBXO43_uc003yje.2_Missense_Mutation_p.R536Q	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	570					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AAGCTGGAGCCGAGTGGCAGC	0.488												
RNF19A	25897	broad.mit.edu	37	8	101271373	101271373	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:101271373C>T	uc003yjj.1	-	11	2245	c.1928G>A	c.(1927-1929)CGA>CAA	p.R643Q	RNF19A_uc003yjk.1_Missense_Mutation_p.R643Q	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	643					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AGCATGACTTCGGGTGGCACT	0.483											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PABPC1	26986	broad.mit.edu	37	8	101733683	101733683	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:101733683G>A	uc003yjs.1	-	1	633	c.129C>T	c.(127-129)TGC>TGT	p.C43C	PABPC1_uc011lhc.1_Silent_p.C43C|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Silent_p.C43C|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	43	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TCATGTCCCTGCAGACCCGGA	0.612												
UBR5	51366	broad.mit.edu	37	8	103277490	103277490	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:103277490C>T	uc003ykr.1	-	53	7472	c.7439G>A	c.(7438-7440)CGC>CAC	p.R2480H	UBR5_uc003yks.1_Missense_Mutation_p.R2479H|UBR5_uc003ykq.2_5'UTR	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2480	HECT.				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	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			AGAGCCATGGCGCTTTCGGTT	0.388												
LRP12	29967	broad.mit.edu	37	8	105502978	105502978	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:105502978C>T	uc003yma.2	-	7	2598	c.2503G>A	c.(2503-2505)GCC>ACC	p.A835T	LRP12_uc003ymb.2_Missense_Mutation_p.A816T|LRP12_uc003ylz.2_Missense_Mutation_p.A241T	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	835	Cytoplasmic (Potential).				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)			GGTATCTGGGCAGTGTGGACA	0.443												
TRHR	7201	broad.mit.edu	37	8	110099964	110099964	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:110099964T>A	uc003ymz.3	+	1	239	c.223T>A	c.(223-225)TTG>ATG	p.L75M		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	75	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)			TCTCATGGTCTTGGTGGCCGC	0.522												
CSMD3	114788	broad.mit.edu	37	8	113318256	113318256	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:113318256T>G	uc003ynu.2	-	51	8210	c.8051A>C	c.(8050-8052)AAC>ACC	p.N2684T	CSMD3_uc003yns.2_Missense_Mutation_p.N1886T|CSMD3_uc003ynt.2_Missense_Mutation_p.N2644T|CSMD3_uc011lhx.1_Missense_Mutation_p.N2580T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2684	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGGGGTCTTGTTATGATTGCT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116616339	116616339	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:116616339C>T	uc003ynz.2	-	3	2277	c.1818G>A	c.(1816-1818)GCG>GCA	p.A606A	TRPS1_uc011lhy.1_Silent_p.A610A|TRPS1_uc003yny.2_Silent_p.A619A|TRPS1_uc010mcy.2_Silent_p.A606A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	606					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)			AGCTTCCAGCCGCCCCAGGAG	0.483									Langer-Giedion_syndrome			
EXT1	2131	broad.mit.edu	37	8	118819539	118819539	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:118819539A>G	uc003yok.1	-	9	2573	c.1800T>C	c.(1798-1800)GAT>GAC	p.D600D		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	600	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCTTAGAGTTATCCCAGAAGT	0.532			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome			
FAM135B	51059	broad.mit.edu	37	8	139165377	139165377	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:139165377G>C	uc003yuy.2	-	13	1512	c.1341C>G	c.(1339-1341)AAC>AAG	p.N447K	FAM135B_uc003yux.2_Missense_Mutation_p.N348K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.N9K|FAM135B_uc003yvb.2_Missense_Mutation_p.N9K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	447										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCATACAGTTATCTTCCT	0.338										HNSCC(54;0.14)		
DENND3	22898	broad.mit.edu	37	8	142178354	142178354	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:142178354C>T	uc003yvy.2	+	13	2043	c.1765C>T	c.(1765-1767)CGG>TGG	p.R589W	DENND3_uc010mep.2_Missense_Mutation_p.R550W|DENND3_uc003yvz.1_Missense_Mutation_p.R273W	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	589										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AACAGACATACGGATCTTTCC	0.557												
SLC45A4	57210	broad.mit.edu	37	8	142228929	142228929	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:142228929G>A	uc003ywd.1	-	4	965	c.657C>T	c.(655-657)GGC>GGT	p.G219G	SLC45A4_uc003ywc.1_Silent_p.G219G|SLC45A4_uc010meq.1_Silent_p.G217G	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	270					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)			CATCCAGGGCGCCGGGCTCCT	0.677												
PTP4A3	11156	broad.mit.edu	37	8	142435181	142435181	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:142435181C>T	uc003ywg.1	+	2	473	c.139C>T	c.(139-141)CGT>TGT	p.R47C	PTP4A3_uc003ywh.1_Missense_Mutation_p.R47C|PTP4A3_uc010met.1_Intron	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	47						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-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;0.0474)			CACTGTGGTGCGTGTGTGTGA	0.657												
PTP4A3	11156	broad.mit.edu	37	8	142441098	142441098	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:142441098G>A	uc003ywg.1	+	5	810	c.476G>A	c.(475-477)CGG>CAG	p.R159Q	PTP4A3_uc003ywh.1_Missense_Mutation_p.R134Q|PTP4A3_uc010met.1_Missense_Mutation_p.G73S	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	159						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-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;0.0474)			CAGAGGCTGCGGTTCAAAGAC	0.592												
BAI1	575	broad.mit.edu	37	8	143624776	143624776	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:143624776C>T	uc003ywm.2	+	28	4609	c.4426C>T	c.(4426-4428)CGG>TGG	p.R1476W		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1476	Cytoplasmic (Potential).|Necessary for interaction with MAGI1.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCGGAAGTCGCGGTATGCAGA	0.627												
LY6E	4061	broad.mit.edu	37	8	144103050	144103050	+	Silent	SNP	C	C	T	rs145193551		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:144103050C>T	uc003yxn.2	+	4	394	c.240C>T	c.(238-240)GGC>GGT	p.G80G	LY6E_uc003yxm.2_Silent_p.G80G|LY6E_uc003yxo.2_RNA	NM_001127213	NP_001120685	Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E precursor	80	UPAR/Ly6.				cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane					0	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCCAGAAGGCGTCAATGTTG	0.607												
ZNF707	286075	broad.mit.edu	37	8	144776320	144776320	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:144776320C>T	uc003yze.3	+	7	1051	c.736C>T	c.(736-738)CGC>TGC	p.R246C	ZNF707_uc010mfh.2_Missense_Mutation_p.R246C|ZNF707_uc010mfi.2_Missense_Mutation_p.R246C|ZNF707_uc003yzf.3_Missense_Mutation_p.R246C|ZNF707_uc003yzh.3_Missense_Mutation_p.R173C|ZNF707_uc011lkq.1_RNA|BREA2_uc010mfj.1_5'Flank	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	246	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCTGAAGGACCGCCTGGCTCA	0.627												
FAM83H	286077	broad.mit.edu	37	8	144811446	144811446	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:144811446G>A	uc003yzk.2	-	3	564	c.495C>T	c.(493-495)AGC>AGT	p.S165S	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	165					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCAGCACTTCGCTGAGCAGGT	0.637												
PLEC	5339	broad.mit.edu	37	8	144992352	144992352	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:144992352G>A	uc003zaf.1	-	32	12218	c.12048C>T	c.(12046-12048)GAC>GAT	p.D4016D	PLEC_uc003zab.1_Silent_p.D3879D|PLEC_uc003zac.1_Silent_p.D3883D|PLEC_uc003zad.2_Silent_p.D3879D|PLEC_uc003zae.1_Silent_p.D3847D|PLEC_uc003zag.1_Silent_p.D3857D|PLEC_uc003zah.2_Silent_p.D3865D|PLEC_uc003zaj.2_Silent_p.D3906D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4016	Globular 2.				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						GCTTGCGGGCGTCCGACAGTG	0.697												
PARP10	84875	broad.mit.edu	37	8	145051961	145051961	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:145051961G>A	uc003zal.3	-	11	2877	c.2769C>T	c.(2767-2769)CGC>CGT	p.R923R	PLEC_uc003zaj.2_5'Flank|PARP10_uc003zak.3_Silent_p.R620R|PARP10_uc011lku.1_Silent_p.R935R|PARP10_uc011lkv.1_RNA	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	923	PARP catalytic.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	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)			ACAGGGAGGCGCGCCTGGCGA	0.716												
DGAT1	8694	broad.mit.edu	37	8	145541660	145541660	+	Missense_Mutation	SNP	C	C	T	rs144983092		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:145541660C>T	uc003zbv.3	-	9	1040	c.772G>A	c.(772-774)GCC>ACC	p.A258T	DGAT1_uc010mfv.2_Intron	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	258	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AAGGTGGGGGCGAAGAGGAAG	0.622												
NFKBIL2	4796	broad.mit.edu	37	8	145666250	145666250	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:145666250G>A	uc011llg.1	-	9	1030	c.1015C>T	c.(1015-1017)CGT>TGT	p.R339C		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	339	TPR 7.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	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)			TCAGCAAAACGCAGCTGGGGG	0.677												
RECQL4	9401	broad.mit.edu	37	8	145737873	145737873	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:145737873T>C	uc003zdj.2	-	18	2989	c.2957A>G	c.(2956-2958)GAG>GGG	p.E986G		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	986					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CATGTCAAACTCCACGGAGCT	0.647			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			
ZNF250	58500	broad.mit.edu	37	8	146107413	146107413	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:146107413G>A	uc003zeq.3	-	6	1287	c.1170C>T	c.(1168-1170)ACC>ACT	p.T390T	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.T385T|ZNF250_uc010mgg.2_Silent_p.T385T	NM_021061	NP_066405	P15622	ZN250_HUMAN	zinc finger protein 250 isoform a	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GCTTCTCCCCGGTGTGCACGT	0.592												
RFX3	5991	broad.mit.edu	37	9	3293099	3293099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:3293099G>A	uc003zhr.2	-	7	1021	c.709C>T	c.(709-711)CGA>TGA	p.R237*	RFX3_uc010mhd.2_Nonsense_Mutation_p.R237*|RFX3_uc003zhs.1_Nonsense_Mutation_p.R237*|RFX3_uc003zht.1_Nonsense_Mutation_p.R237*|RFX3_uc010mhe.1_Nonsense_Mutation_p.R212*	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	237	RFX-type winged-helix.				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTCCTGGTTCGTAGCCCCATA	0.358												
GLIS3	169792	broad.mit.edu	37	9	4118134	4118134	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:4118134C>T	uc003zhw.1	-	3	1073	c.879G>A	c.(877-879)CCG>CCA	p.P293P	GLIS3_uc003zhx.1_Silent_p.P448P|GLIS3_uc003zic.1_Silent_p.P448P|GLIS3_uc003zie.1_Silent_p.P448P|GLIS3_uc010mhh.1_Silent_p.P323P|GLIS3_uc003zid.1_Silent_p.P226P|GLIS3_uc010mhi.1_Silent_p.P255P|GLIS3_uc003zif.1_Silent_p.P226P|GLIS3_uc003zig.1_Silent_p.P292P|GLIS3_uc003zih.1_Silent_p.P226P|GLIS3_uc003zhy.1_Silent_p.P226P|GLIS3_uc003zhz.1_Silent_p.P226P|GLIS3_uc003zib.1_Silent_p.P292P|GLIS3_uc010mhg.1_Silent_p.P226P	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	293	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		gaggagggagcggaggcgcgg	0.507												
GLIS3	169792	broad.mit.edu	37	9	4118413	4118413	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:4118413G>A	uc003zhw.1	-	3	794	c.600C>T	c.(598-600)CGC>CGT	p.R200R	GLIS3_uc003zhx.1_Silent_p.R355R|GLIS3_uc003zic.1_Silent_p.R355R|GLIS3_uc003zie.1_Silent_p.R355R|GLIS3_uc010mhh.1_Silent_p.R230R|GLIS3_uc003zid.1_Silent_p.R133R|GLIS3_uc010mhi.1_Silent_p.R162R|GLIS3_uc003zif.1_Silent_p.R133R|GLIS3_uc003zig.1_Silent_p.R199R|GLIS3_uc003zih.1_Silent_p.R133R|GLIS3_uc003zhy.1_Silent_p.R133R|GLIS3_uc003zhz.1_Silent_p.R133R|GLIS3_uc003zib.1_Silent_p.R199R|GLIS3_uc010mhg.1_Silent_p.R133R	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	200					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGCAGCTGCCGCGCACGCCCA	0.736												
GLIS3	169792	broad.mit.edu	37	9	4118512	4118512	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:4118512C>T	uc003zhw.1	-	3	695	c.501G>A	c.(499-501)ACG>ACA	p.T167T	GLIS3_uc003zhx.1_Silent_p.T322T|GLIS3_uc003zic.1_Silent_p.T322T|GLIS3_uc003zie.1_Silent_p.T322T|GLIS3_uc010mhh.1_Silent_p.T197T|GLIS3_uc003zid.1_Silent_p.T100T|GLIS3_uc010mhi.1_Silent_p.T129T|GLIS3_uc003zif.1_Silent_p.T100T|GLIS3_uc003zig.1_Silent_p.T166T|GLIS3_uc003zih.1_Silent_p.T100T|GLIS3_uc003zhy.1_Silent_p.T100T|GLIS3_uc003zhz.1_Silent_p.T100T|GLIS3_uc003zib.1_Silent_p.T166T|GLIS3_uc010mhg.1_Silent_p.T100T	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	167					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ACGTGGGCGACGTGCGGATGA	0.642												
PTPRD	5789	broad.mit.edu	37	9	8341799	8341799	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:8341799G>C	uc003zkk.2	-	39	5552	c.4841C>G	c.(4840-4842)ACT>AGT	p.T1614S	PTPRD_uc003zkp.2_Missense_Mutation_p.T1208S|PTPRD_uc003zkq.2_Missense_Mutation_p.T1207S|PTPRD_uc003zkr.2_Missense_Mutation_p.T1198S|PTPRD_uc003zks.2_Missense_Mutation_p.T1207S|PTPRD_uc003zkl.2_Missense_Mutation_p.T1605S|PTPRD_uc003zkm.2_Missense_Mutation_p.T1601S|PTPRD_uc003zkn.2_Missense_Mutation_p.T1203S|PTPRD_uc003zko.2_Missense_Mutation_p.T1204S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1614	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTTCCACAAGTCACTGCTTC	0.413										TSP Lung(15;0.13)		
FREM1	158326	broad.mit.edu	37	9	14806679	14806679	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:14806679C>T	uc003zlm.2	-	18	3844	c.3254G>A	c.(3253-3255)AGC>AAC	p.S1085N	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1085	CSPG 7.				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)		GCCAATATTGCTTTTTTCAAA	0.423												
KIAA1797	54914	broad.mit.edu	37	9	20944746	20944746	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:20944746C>T	uc003zog.1	+	31	3891	c.3528C>T	c.(3526-3528)AGC>AGT	p.S1176S	KIAA1797_uc003zoh.1_Silent_p.S612S	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1176						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TAGATGACAGCGGGAGCCAGA	0.502												
CDKN2A	1029	broad.mit.edu	37	9	21971132	21971132	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:21971132C>T	uc003zpk.2	-	2	438	c.226G>A	c.(226-228)GCC>ACC	p.A76T	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R131H	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	76					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.A76V(3)|p.A76fs*70(2)|p.E61_L94del(1)|p.A76fs*64(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.A76T(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTGAGAGTGGCGGGGTCGGCG	0.711		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
TEK	7010	broad.mit.edu	37	9	27212860	27212860	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:27212860G>A	uc003zqi.3	+	17	3284	c.2842G>A	c.(2842-2844)GTG>ATG	p.V948M	TEK_uc011lno.1_Missense_Mutation_p.V905M|TEK_uc011lnp.1_Missense_Mutation_p.V800M	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	948	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CGCTGCCGACGTGGCCCGGGG	0.552												
FANCG	2189	broad.mit.edu	37	9	35074153	35074153	+	Silent	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:35074153G>T	uc003zwb.1	-	14	2313	c.1821C>A	c.(1819-1821)GCC>GCA	p.A607A	VCP_uc003zvy.2_5'Flank|VCP_uc003zvz.2_5'Flank|VCP_uc010mkh.1_5'Flank|VCP_uc010mki.1_5'Flank|FANCG_uc003zwa.1_Silent_p.A349A|FANCG_uc010mkj.1_Silent_p.A349A	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	607			A -> T (in a colorectal cancer sample; somatic mutation).		cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.A607T(1)		ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTTCAAGGAAGGCGTCACGAT	0.512			Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
TLN1	7094	broad.mit.edu	37	9	35711592	35711592	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:35711592C>T	uc003zxt.2	-	29	4233	c.3879G>A	c.(3877-3879)CCG>CCA	p.P1293P		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1293					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCTTCATACCGGAGCCTGGC	0.592												
CCIN	881	broad.mit.edu	37	9	36170043	36170043	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:36170043C>T	uc003zzb.3	+	1	655	c.544C>T	c.(544-546)CGC>TGC	p.R182C		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	182	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			TATCTTTGGCCGCCTGCTCCG	0.542												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478												
NOL8	55035	broad.mit.edu	37	9	95077084	95077084	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:95077084G>T	uc004arv.2	-	7	2160	c.1823C>A	c.(1822-1824)CCC>CAC	p.P608H	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.P540H	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	608					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						TATGATACTGGGATCCTCATG	0.413												
BICD2	23299	broad.mit.edu	37	9	95481859	95481859	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:95481859C>T	uc004aso.1	-	5	1125	c.1068G>A	c.(1066-1068)GAG>GAA	p.E356E	BICD2_uc004asp.1_Silent_p.E356E	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	356	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						CCTTTTCCCGCTCCATCTGCA	0.622												
WNK2	65268	broad.mit.edu	37	9	96051495	96051495	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:96051495G>A	uc004ati.1	+	20	4570	c.4570G>A	c.(4570-4572)GGG>AGG	p.G1524R	WNK2_uc011lud.1_Missense_Mutation_p.G1487R|WNK2_uc004atj.2_Missense_Mutation_p.G1487R|WNK2_uc004atk.2_Missense_Mutation_p.G1124R|WNK2_uc004atl.1_Missense_Mutation_p.G82R	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1524					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						CCCCCACAGCGGGACCCCACA	0.711												
PHF2	5253	broad.mit.edu	37	9	96422584	96422584	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:96422584G>A	uc004aub.2	+	12	1587	c.1440G>A	c.(1438-1440)CCG>CCA	p.P480P	PHF2_uc011lug.1_Silent_p.P363P|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	480	Pro-rich.				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)		AGGCCACCCCGCCTCAATCCC	0.488												
PHF2	5253	broad.mit.edu	37	9	96422621	96422621	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:96422621A>G	uc004aub.2	+	12	1624	c.1477A>G	c.(1477-1479)ACT>GCT	p.T493A	PHF2_uc011lug.1_Missense_Mutation_p.T376A|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	493	Pro-rich.|Lys-rich.				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)		CAAAAAAAAGACTCCCAAAAC	0.433												
PHF2	5253	broad.mit.edu	37	9	96422642	96422642	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:96422642C>A	uc004aub.2	+	12	1645	c.1498C>A	c.(1498-1500)CCC>ACC	p.P500T	PHF2_uc011lug.1_Missense_Mutation_p.P383T|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	500	Pro-rich.|Lys-rich.				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)		TGTGAAGATGCCCAAGCCATC	0.418												
PTCH1	5727	broad.mit.edu	37	9	98209302	98209302	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:98209302G>A	uc004avk.3	-	23	4424	c.4236C>T	c.(4234-4236)CCC>CCT	p.P1412P	PTCH1_uc010mrn.2_Silent_p.P204P|PTCH1_uc010mro.2_Silent_p.P1261P|PTCH1_uc010mrp.2_Silent_p.P1261P|PTCH1_uc010mrq.2_Silent_p.P1261P|PTCH1_uc004avl.3_Silent_p.P1261P|PTCH1_uc010mrr.2_Silent_p.P1346P|PTCH1_uc004avm.3_Silent_p.P1411P	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1412	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGGCACGTGGGGGTCCTCAA	0.667									Basal_Cell_Nevus_syndrome			
KIAA1529	57653	broad.mit.edu	37	9	100124588	100124588	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:100124588G>A	uc011lut.1	+	40	5089	c.4316G>A	c.(4315-4317)GGT>GAT	p.G1439D	KIAA1529_uc004axe.1_Intron|KIAA1529_uc004axg.1_Missense_Mutation_p.G1300D|KIAA1529_uc004axh.1_Intron|KIAA1529_uc011luw.1_Intron	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GGGGCTGGTGGTGCTGTGTGC	0.602												
TRIM14	9830	broad.mit.edu	37	9	100850119	100850119	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:100850119C>T	uc004ayd.2	-	6	980	c.962G>A	c.(961-963)CGC>CAC	p.R321H	TRIM14_uc004ayf.1_Missense_Mutation_p.R228H|TRIM14_uc011luz.1_Missense_Mutation_p.R99H|TRIM14_uc011lva.1_Missense_Mutation_p.R102H|TRIM14_uc004ayg.1_Missense_Mutation_p.R321H|TRIM14_uc004ayh.1_Missense_Mutation_p.R321H|TRIM14_uc004ayi.1_Intron|TRIM14_uc004ayj.1_Missense_Mutation_p.R228H	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	321	B30.2/SPRY.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CCAGTAGTGGCGGCCGGTGGC	0.627												
GABBR2	9568	broad.mit.edu	37	9	101470716	101470716	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:101470716G>A	uc004ays.2	-	1	460	c.304C>T	c.(304-306)CGG>TGG	p.R102W		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	102	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCATAGAGCCGCAGGTCGAGG	0.677												
PPP3R2	5535	broad.mit.edu	37	9	104357038	104357038	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:104357038G>A	uc004bbr.2	-	1	246	c.175C>T	c.(175-177)CGG>TGG	p.R59W	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	56	EF-hand 2.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	ATCACTCGCCGCACCAACGGG	0.582												
SVEP1	79987	broad.mit.edu	37	9	113341460	113341460	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:113341460C>T	uc010mtz.2	-	1	701	c.364G>A	c.(364-366)GTG>ATG	p.V122M	SVEP1_uc010mua.1_Missense_Mutation_p.V122M|SVEP1_uc004beu.2_Missense_Mutation_p.V122M|uc004bew.1_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	122	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ACGATGGCCACGCGCGTGGCC	0.652												
SLC46A2	57864	broad.mit.edu	37	9	115652385	115652385	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:115652385G>A	uc004bgk.2	-	1	809	c.577C>T	c.(577-579)CAT>TAT	p.H193Y		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	193	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						TTGAAGAGATGCCCGGAAGCC	0.642												
AMBP	259	broad.mit.edu	37	9	116836367	116836367	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:116836367T>A	uc004bie.3	-	4	666	c.403A>T	c.(403-405)ACC>TCC	p.T135S	AMBP_uc011lxk.1_Missense_Mutation_p.T76S|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	135					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AATTTCTTGGTCAGGAAAATG	0.498												
PAPPA	5069	broad.mit.edu	37	9	118949583	118949583	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:118949583G>A	uc004bjn.2	+	2	947	c.566G>A	c.(565-567)CGC>CAC	p.R189H	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.1_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	189					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						AATGCCCACCGCAGCTACCTC	0.552												
GSN	2934	broad.mit.edu	37	9	124072991	124072991	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:124072991C>T	uc004blf.1	+	4	595	c.534C>T	c.(532-534)CAC>CAT	p.H178H	GSN_uc004bld.1_Silent_p.H127H|GSN_uc010mvq.1_Silent_p.H138H|GSN_uc010mvr.1_Silent_p.H138H|GSN_uc010mvu.1_Silent_p.H127H|GSN_uc010mvt.1_Silent_p.H127H|GSN_uc010mvs.1_Silent_p.H127H|GSN_uc004ble.1_Silent_p.H127H|GSN_uc010mvv.1_Silent_p.H127H|GSN_uc011lyh.1_Silent_p.H144H|GSN_uc011lyi.1_Silent_p.H127H|GSN_uc011lyj.1_Silent_p.H151H|GSN_uc004blg.1_5'Flank	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	178					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						GATTCAAGCACGTGGTACCCA	0.582												
GSN	2934	broad.mit.edu	37	9	124089585	124089585	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:124089585G>T	uc004blf.1	+	13	1802	c.1741_splice	c.e13-1	p.V581_splice	GSN_uc004bld.1_Splice_Site_p.V530_splice|GSN_uc010mvq.1_Splice_Site_p.V541_splice|GSN_uc010mvr.1_Splice_Site_p.V541_splice|GSN_uc010mvu.1_Splice_Site_p.V530_splice|GSN_uc010mvt.1_Splice_Site_p.V530_splice|GSN_uc010mvs.1_Splice_Site_p.V530_splice|GSN_uc004ble.1_Splice_Site_p.V530_splice|GSN_uc010mvv.1_Splice_Site_p.V530_splice|GSN_uc011lyh.1_Splice_Site_p.V547_splice|GSN_uc011lyi.1_Splice_Site_p.V530_splice|GSN_uc011lyj.1_Splice_Site_p.V554_splice|GSN_uc004blg.1_Splice_Site_p.V312_splice	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						TACCCTCCCAGGTATTGCCTA	0.592												
PTGS1	5742	broad.mit.edu	37	9	125140230	125140230	+	Silent	SNP	C	C	T	rs138230380		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:125140230C>T	uc004bmg.1	+	3	282	c.147C>T	c.(145-147)TTC>TTT	p.F49F	PTGS1_uc011lys.1_Silent_p.F24F|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Silent_p.F49F|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	49	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GTGTCCGCTTCGGCCTTGACC	0.597												
DENND1A	57706	broad.mit.edu	37	9	126392754	126392754	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:126392754A>G	uc004bnz.1	-	10	853	c.620T>C	c.(619-621)CTG>CCG	p.L207P	DENND1A_uc011lzl.1_Missense_Mutation_p.L24P|DENND1A_uc004bny.1_Missense_Mutation_p.L24P|DENND1A_uc011lzm.1_Missense_Mutation_p.L175P|DENND1A_uc004boa.1_Missense_Mutation_p.L207P|DENND1A_uc004bob.1_Missense_Mutation_p.L177P|DENND1A_uc004boc.2_Missense_Mutation_p.L175P	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	207	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						GCAGGCAGTCAGCTGGAACAG	0.507												
OLFML2A	169611	broad.mit.edu	37	9	127566419	127566419	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:127566419G>T	uc004bov.2	+	6	1079	c.966G>T	c.(964-966)AAG>AAT	p.K322N	OLFML2A_uc010mwr.1_Missense_Mutation_p.K286N|OLFML2A_uc004bow.2_Missense_Mutation_p.K108N	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	322											0						TGCCGCCCAAGGTGGAGGGCA	0.642												
RPL12	6136	broad.mit.edu	37	9	130211929	130211929	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:130211929C>T	uc004bqy.1	-	3	258	c.170G>A	c.(169-171)AGG>AAG	p.R57K	RPL12_uc004bqx.1_RNA|RPL12_uc004bqz.1_Intron|SNORA65_uc004bra.1_5'Flank|LRSAM1_uc004brb.1_5'Flank|LRSAM1_uc010mxk.1_5'Flank|LRSAM1_uc004brc.1_5'Flank|LRSAM1_uc004brd.1_5'Flank	NM_000976	NP_000967	P30050	RL12_HUMAN	ribosomal protein L12	57					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						CACTGTAATCCTCAGGCCCTT	0.502												
C9orf117	286207	broad.mit.edu	37	9	130475026	130475026	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:130475026G>A	uc004brn.1	+	7	1216	c.1176G>A	c.(1174-1176)ACG>ACA	p.T392T	PTRH1_uc004brm.2_Intron|C9orf117_uc010mxl.1_RNA	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	hypothetical protein LOC286207	392											0						TTGACGTGACGTTCCAGCCAT	0.622												
NAIF1	203245	broad.mit.edu	37	9	130829272	130829272	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:130829272C>T	uc004bta.2	-	1	328	c.109G>A	c.(109-111)GCC>ACC	p.A37T	NAIF1_uc004bsz.2_RNA|SLC25A25_uc004btb.2_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	37	Required for nuclear localization and apoptosis-inducing activity.				apoptosis|induction of apoptosis	nucleus					0						GGTACCCCGGCGTTGAAGTGG	0.612												
PTGES2	80142	broad.mit.edu	37	9	130885323	130885323	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:130885323C>T	uc004bti.2	-	5	1255	c.777G>A	c.(775-777)GCG>GCA	p.A259A	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Silent_p.A68A|PTGES2_uc004btl.2_Silent_p.A68A|PTGES2_uc004btm.2_RNA	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	259	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						AGTCAAAGGACGCCAGAGCCT	0.642												
SLC27A4	10999	broad.mit.edu	37	9	131107438	131107438	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:131107438G>A	uc004but.2	+	3	450	c.166G>A	c.(166-168)GGC>AGC	p.G56S	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	56					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						ACACAGTGGCGGCCTGGTCCT	0.632												
SPTAN1	6709	broad.mit.edu	37	9	131392621	131392621	+	Silent	SNP	G	G	A	rs140856932		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:131392621G>A	uc004bvl.3	+	51	6827	c.6714G>A	c.(6712-6714)TCG>TCA	p.S2238S	SPTAN1_uc004bvm.3_Silent_p.S2243S|SPTAN1_uc004bvn.3_Silent_p.S2218S|SPTAN1_uc004bvo.3_Silent_p.S5S|SPTAN1_uc004bvp.3_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2238	Spectrin 23.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGGAAGAGTCGGGGACCCTCG	0.597												
DOLK	22845	broad.mit.edu	37	9	131708898	131708898	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:131708898C>G	uc004bwr.2	-	1	1115	c.685G>C	c.(685-687)GTG>CTG	p.V229L	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	229	Helical; (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						ACTACCACCACCAGCAGGAAG	0.532												
C9orf50	375759	broad.mit.edu	37	9	132382797	132382797	+	Silent	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:132382797A>G	uc004byc.3	-	1	259	c.57T>C	c.(55-57)CCT>CCC	p.P19P	C9orf50_uc004byb.3_Intron	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	19										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)				CTCCGTCGCCAGGGAGCCCCT	0.751												
NUP214	8021	broad.mit.edu	37	9	134027125	134027125	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:134027125G>A	uc004cag.2	+	17	2391	c.2280G>A	c.(2278-2280)TCG>TCA	p.S760S	NUP214_uc004cah.2_Silent_p.S750S|NUP214_uc004cai.2_Silent_p.S190S|NUP214_uc004caf.1_Silent_p.S749S|NUP214_uc010mzf.2_Silent_p.S58S	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	760	Leucine-zipper 1.|11 X 5 AA approximate repeats.				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)		TTTTCTAGTCGCTTCATGGAG	0.393			T	DEK|SET|ABL1	AML|T-ALL							
POMT1	10585	broad.mit.edu	37	9	134387493	134387493	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:134387493A>G	uc004cav.2	+	11	1320	c.1118A>G	c.(1117-1119)AAT>AGT	p.N373S	POMT1_uc004cax.2_Missense_Mutation_p.N351S|POMT1_uc011mcj.1_Missense_Mutation_p.N129S|POMT1_uc004cau.2_Missense_Mutation_p.N351S|POMT1_uc004caw.2_Missense_Mutation_p.N297S|POMT1_uc011mck.1_Missense_Mutation_p.N234S|POMT1_uc011mcl.1_Missense_Mutation_p.N199S|POMT1_uc011mcm.1_Missense_Mutation_p.N321S|POMT1_uc011mcn.1_Missense_Mutation_p.N76S	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	373	MIR 1.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAAGATGTCAATAACTGGTGG	0.532												
BARHL1	56751	broad.mit.edu	37	9	135464717	135464717	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:135464717G>A	uc004cbp.1	+	3	984	c.792G>A	c.(790-792)CCG>CCA	p.P264P		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	264						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		ATTTCTACCCGCAGAGTCTGG	0.662												
BRD3	8019	broad.mit.edu	37	9	136913440	136913440	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:136913440C>T	uc004cew.2	-	6	1039	c.851G>A	c.(850-852)CGC>CAC	p.R284H	BRD3_uc004cex.2_Missense_Mutation_p.R284H	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	284						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTTGATGGGGCGGCCACCACT	0.682			T	NUT|C15orf55	lethal midline carcinoma of young people							
MRPS2	51116	broad.mit.edu	37	9	138393760	138393760	+	Silent	SNP	C	C	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:138393760C>A	uc004cfv.3	+	3	314	c.240C>A	c.(238-240)TCC>TCA	p.S80S	C9orf116_uc004cfs.1_5'Flank|C9orf116_uc004cft.1_5'Flank|C9orf116_uc004cfu.1_5'Flank|MRPS2_uc004cfw.3_5'UTR|MRPS2_uc004cfx.3_5'UTR|MRPS2_uc010nat.2_Silent_p.S61S	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	80					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)		AACTGTTTTCCGTGAGAAGCC	0.562												
UBAC1	10422	broad.mit.edu	37	9	138837033	138837033	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:138837033C>T	uc004cgt.2	-	7	935	c.717G>A	c.(715-717)ACG>ACA	p.T239T	UBAC1_uc004cgs.1_Silent_p.T239T|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	239						Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CAGGAAGAGGCGTGTCTATGG	0.632												
QSOX2	169714	broad.mit.edu	37	9	139100961	139100961	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:139100961C>T	uc010nbi.2	-	12	1748	c.1710G>A	c.(1708-1710)ACG>ACA	p.T570T		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	570					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTGCGGAATACGTGTCTAAGA	0.577												
GPSM1	26086	broad.mit.edu	37	9	139243180	139243180	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:139243180C>T	uc004chd.2	+	10	1459	c.1239C>T	c.(1237-1239)AGC>AGT	p.S413S		NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1 (AGS3-like, C.	413	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		AGAGGCTGAGCGCGGAGACCT	0.692												
SEC16A	9919	broad.mit.edu	37	9	139371886	139371886	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:139371886G>A	uc004chx.2	-	3	491	c.182C>T	c.(181-183)GCG>GTG	p.A61V	SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.A61V|SEC16A_uc010nbn.2_Missense_Mutation_p.A61V|SEC16A_uc010nbo.1_Missense_Mutation_p.A61V	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)		ACTTTGGAGCGCCTGTCTACT	0.557												
AGPAT2	10555	broad.mit.edu	37	9	139571949	139571949	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:139571949C>T	uc004cii.1	-	2	344	c.242G>A	c.(241-243)CGG>CAG	p.R81Q	AGPAT2_uc004cij.1_Missense_Mutation_p.R81Q	NM_006412	NP_006403	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	81					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GCGCGGGTCCCGCACCTCGAA	0.642												
C9orf173	441476	broad.mit.edu	37	9	140147654	140147654	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:140147654G>A	uc004cmk.1	+	6	909	c.897G>A	c.(895-897)ACG>ACA	p.T299T	C9orf173_uc004cmj.1_Missense_Mutation_p.R295H|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_Missense_Mutation_p.R239H|C9orf173_uc004cml.1_Silent_p.T244T|COBRA1_uc004cmm.3_5'Flank			Q8N7X2	CI173_HUMAN	SubName: Full=LOC441476 protein;	303										pancreas(1)	1						CAGGGTGTACGCAGACCCAAG	0.672												
PNPLA7	375775	broad.mit.edu	37	9	140437253	140437253	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:140437253C>T	uc004cnf.2	-	6	769	c.432G>A	c.(430-432)CGG>CGA	p.R144R	PNPLA7_uc010ncj.1_Silent_p.R169R	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	144					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGCCCAGGACCCTGCAAGAGC	0.627												
CACNA1B	774	broad.mit.edu	37	9	140846799	140846799	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:140846799T>C	uc004cog.2	+	7	1185	c.1040T>C	c.(1039-1041)ATG>ACG	p.M347T		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	347	Helical; Name=S6 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCTTCTTCATGCTCAACCTG	0.587												
FRMPD4	9758	broad.mit.edu	37	X	12735698	12735698	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:12735698A>G	uc004cuz.1	+	16	3259	c.2753A>G	c.(2752-2754)GAG>GGG	p.E918G	FRMPD4_uc011mij.1_Missense_Mutation_p.E910G	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	918					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						GAAATGACTGAGAGTTCTGAA	0.498												
NHS	4810	broad.mit.edu	37	X	17744539	17744539	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:17744539G>A	uc004cxx.2	+	6	2588	c.2250G>A	c.(2248-2250)GCG>GCA	p.A750A	NHS_uc011mix.1_Silent_p.A771A|NHS_uc004cxy.2_Silent_p.A594A|NHS_uc004cxz.2_Silent_p.A573A|NHS_uc004cya.2_Silent_p.A473A	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	750						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					CAGACAAAGCGGACACTAGCT	0.483												
IL1RAPL1	11141	broad.mit.edu	37	X	29973926	29973926	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:29973926G>A	uc004dby.2	+	11	2588	c.2080G>A	c.(2080-2082)GTG>ATG	p.V694M		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	694	Cytoplasmic (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TATATCCAGTGTGATATGGTG	0.537												
FAM47C	442444	broad.mit.edu	37	X	37029394	37029394	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:37029394G>A	uc004ddl.1	+	1	2925	c.2911G>A	c.(2911-2913)GAC>AAC	p.D971N		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	971										ovary(3)	3						TGATGAACCCGACATTCTTGA	0.453												
ATP6AP2	10159	broad.mit.edu	37	X	40458981	40458981	+	Silent	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:40458981C>T	uc004det.2	+	7	828	c.726C>T	c.(724-726)GAC>GAT	p.D242D	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Silent_p.D166D|ATP6AP2_uc011mkm.1_Silent_p.D210D|ATP6AP2_uc011mkn.1_Silent_p.D164D|ATP6AP2_uc004deu.1_Silent_p.D107D	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	242	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0						TCCTTGTTGACGCTCTGCAAA	0.398												
CCNB3	85417	broad.mit.edu	37	X	50053923	50053923	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:50053923G>C	uc004dox.3	+	6	3052	c.2754G>C	c.(2752-2754)ATG>ATC	p.M918I	CCNB3_uc004doy.2_Missense_Mutation_p.M918I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	918					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					CCTTGAAGATGTCTACCATCA	0.468												
ZXDA	7789	broad.mit.edu	37	X	57936601	57936601	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:57936601C>T	uc004dve.2	-	1	467	c.254G>A	c.(253-255)GGC>GAC	p.G85D		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	85					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GAAGTCGTCGCCGCCGCCGCT	0.627												
ITGB1BP2	26548	broad.mit.edu	37	X	70524391	70524391	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:70524391G>A	uc004dzr.1	+	10	783	c.754_splice	c.e10-1	p.L252_splice	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Splice_Site_p.L234_splice	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2						muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					TTTTCTCTCAGCTTCATGTCC	0.488												
COX7B	1349	broad.mit.edu	37	X	77158170	77158170	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:77158170A>G	uc004ecu.1	+	2	161	c.71A>G	c.(70-72)CAG>CGG	p.Q24R		NM_001866	NP_001857	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb precursor	24					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0						ATGGCAAGGCAGAGCCACCAG	0.368												
ATP7A	538	broad.mit.edu	37	X	77289155	77289155	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:77289155G>T	uc004ecx.3	+	17	3507	c.3347G>T	c.(3346-3348)GGC>GTC	p.G1116V		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1116	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						GTTGTGCCAGGCTGTGGTATT	0.388												
DACH2	117154	broad.mit.edu	37	X	86067899	86067899	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:86067899G>C	uc004eew.2	+	8	1451	c.1281G>C	c.(1279-1281)TTG>TTC	p.L427F	DACH2_uc004eex.2_Missense_Mutation_p.L414F|DACH2_uc010nmq.2_Missense_Mutation_p.L293F|DACH2_uc011mra.1_Missense_Mutation_p.L260F|DACH2_uc010nmr.2_Missense_Mutation_p.L208F|DACH2_uc004eey.2_Missense_Mutation_p.L110F|DACH2_uc004eez.2_Missense_Mutation_p.L110F	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						AGTCACCCTTGGACAAGATAC	0.443												
TCEAL5	340543	broad.mit.edu	37	X	102529191	102529191	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:102529191G>A	uc004ejz.1	-	3	596	c.301C>T	c.(301-303)CGG>TGG	p.R101W		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						TCGGCGGCCCGCGGCTGGCTC	0.592												
FAM199X	139231	broad.mit.edu	37	X	103430850	103430850	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:103430850G>A	uc004elw.2	+	3	687	c.521G>A	c.(520-522)CGG>CAG	p.R174Q	FAM199X_uc004elx.2_5'UTR	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	174										ovary(1)	1						AACAAGCACCGGAATTTAGAT	0.413												
TRPC5	7224	broad.mit.edu	37	X	111090507	111090507	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:111090507C>T	uc004epl.1	-	6	2454	c.1535G>A	c.(1534-1536)CGC>CAC	p.R512H	TRPC5_uc004epm.1_Missense_Mutation_p.R512H	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	512	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						AAGCAGCATGCGTCCCAAAGA	0.438												
ODZ1	10178	broad.mit.edu	37	X	123526014	123526014	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:123526014G>A	uc004euj.2	-	27	5619	c.5555C>T	c.(5554-5556)ACG>ATG	p.T1852M	ODZ1_uc011muj.1_Missense_Mutation_p.T1858M|ODZ1_uc010nqy.2_Missense_Mutation_p.T1859M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1852	Extracellular (Potential).|YD 6.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTGAATAAACGTCACCAATCC	0.408												
ZIC3	7547	broad.mit.edu	37	X	136649856	136649856	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:136649856G>A	uc004fak.2	+	1	1511	c.1006G>A	c.(1006-1008)GGG>AGG	p.G336R		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	336	C2H2-type 3.|Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CCCGGGCTGCGGGAAGATCTT	0.597												
AFF2	2334	broad.mit.edu	37	X	148055041	148055041	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:148055041C>T	uc004fcp.2	+	16	3787	c.3308C>T	c.(3307-3309)GCC>GTC	p.A1103V	AFF2_uc004fcq.2_Missense_Mutation_p.A1093V|AFF2_uc004fcr.2_Missense_Mutation_p.A1064V|AFF2_uc011mxb.1_Missense_Mutation_p.A1068V|AFF2_uc004fcs.2_Missense_Mutation_p.A1068V|AFF2_uc011mxc.1_Missense_Mutation_p.A744V	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1103					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)					GCTGATGCCGCCCTCTCCTTC	0.463												
HAUS7	55559	broad.mit.edu	37	X	152719895	152719895	+	Silent	SNP	G	G	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:152719895G>A	uc004fho.1	-	9	1590	c.1032C>T	c.(1030-1032)GGC>GGT	p.G344G	HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Silent_p.G403G|HAUS7_uc004fhp.1_RNA	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	HAUS augmin-like complex subunit 7	344					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0						AGATCTGCTCGCCTTGCTGCT	0.552												
PLXNA3	55558	broad.mit.edu	37	X	153694759	153694759	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:153694759C>T	uc004flm.2	+	16	3013	c.2840C>T	c.(2839-2841)GCG>GTG	p.A947V		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	947	IPT/TIG 2.|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)					CGTGGCCCGGCGTCCGGGGGC	0.662												
DNAH5	1767	broad.mit.edu	37	5	13751371	13751371	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:13751371delT	uc003jfd.2	-	65	11071	c.11029_splice	c.e65-1	p.V3677_splice	DNAH5_uc003jfc.2_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AACTTTCACCttttttataaa	0.318									Kartagener_syndrome			
QKI	9444	broad.mit.edu	37	6	163876309	163876310	+	Splice_Site	DEL	AG	AG	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:163876309_163876310delAG	uc003qui.2	+	2	694	c.143_splice	c.e2-1	p.E48_splice	QKI_uc003que.2_Splice_Site_p.E48_splice|QKI_uc003quf.2_Splice_Site_p.E48_splice|QKI_uc003qug.2_Splice_Site_p.E48_splice|QKI_uc003quh.2_Splice_Site_p.E48_splice|QKI_uc003quj.2_Splice_Site_p.E48_splice	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform						mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TACTTTTAACAGAAATTAGCAG	0.366												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
HHIP	64399	broad.mit.edu	37	4	145628239	145628239	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:145628238_145628238GA>G	uc003ijs.2	+	6	1664	c.984_splice	c.e6-1	p.R328_splice		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	328						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CCACAATGTAGAAAAAATCCA	0.388												
SLCO6A1	133482	broad.mit.edu	37	5	101755728	101755728	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:101755727_101755727TA>T	uc003knn.3	-	8	1449	c.1277_splice	c.e8-1	p.G426_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	426						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		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)		AAACAAGTCCTAAAAAAAAGG	0.343												
CDKL3	51265	broad.mit.edu	37	5	133536190	133536190	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:133536189_133536189TA>T	uc003kze.3	-	5	975	c.577_splice	c.e5-1	p.G193_splice		NM_002715	NP_002706	Q8IVW4	CDKL3_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, alpha isozyme (PPP2CA), mRNA.	0	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATTGGACCCTAAAAAATAAC	0.413												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
PHF3	23469	broad.mit.edu	37	6	64395813	64395814	+	Splice_Site	DEL	GT	GT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:64395812_64395813GGT>G	uc003pep.1	+	3	2214	c.2189_splice	c.e3+1	p.R730_splice	PHF3_uc010kaf.1_Splice_Site_p.R730_splice|PHF3_uc003pem.2_Splice_Site_p.R683_splice|PHF3_uc010kag.1_Splice_Site_p.R642_splice|PHF3_uc010kah.1_Splice_Site_p.R544_splice|PHF3_uc003pen.2_Splice_Site_p.R642_splice|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Frame_Shift_Del_p.R730fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	730					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CATGGCAACAGGTGTGTGTGTA	0.371												
C6orf170	221322	broad.mit.edu	37	6	121481252	121481252	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:121481251_121481251TA>T	uc003pyo.1	-	24	2748	c.2680_splice	c.e24-1	p.S894_splice	C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc010kej.1_Splice_Site|C6orf170_uc003pyp.1_Splice_Site_p.S454_splice	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	894					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		ATTATCACTCTAAAAAAGAAG	0.318												
SYNE1	23345	broad.mit.edu	37	6	152539540	152539541	+	Splice_Site	INS	-	-	T	rs35128811		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:152539539_152539540C>CT	uc021zhb.1	-	119	22268	c.22045_splice	c.e119-1	p.A7349_splice	SYNE1_uc003qos.4_Splice_Site_p.A1873_splice|SYNE1_uc003qot.4_Splice_Site_p.A7278_splice|SYNE1_uc003qou.4_Splice_Site_p.A7349_splice|SYNE1_uc003qor.4_Splice_Site_p.A249_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7349					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAACTCCAGCCTTTTTTTCCAC	0.347										HNSCC(10;0.0054)		
NBN	4683	broad.mit.edu	37	8	90967512	90967512	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:90967511_90967511CT>C	uc003yej.1	-	10	1507	c.1397_splice	c.e10+1	p.R466_splice	NBN_uc011lgb.1_Splice_Site_p.R466_splice|NBN_uc003yei.1_Splice_Site_p.R384_splice	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	466					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAAAACAGACCTTTTTTTGGT	0.338								Homologous recombination				
RASGRP2	10235	broad.mit.edu	37	11	64507638	64507638	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:64507637_64507637TG>T	uc009ypu.3	-	6	599	c.372_splice	c.e6-1	p.V124_splice	RASGRP2_uc001oat.3_Frame_Shift_Del_p.S26fs|RASGRP2_uc001oau.3_Splice_Site|RASGRP2_uc009ypv.3_Splice_Site_p.V124_splice|RASGRP2_uc009ypw.3_Splice_Site_p.V124_splice	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	124	N-terminal Ras-GEF.				Ras protein signal transduction|platelet activation|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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGTAGGGCTGGGGGGGCAG	0.572												
RBM19	9904	broad.mit.edu	37	12	114358498	114358499	+	Splice_Site	DEL	GA	GA	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:114358497_114358498TGA>T	uc009zwi.2	-	19	2450	c.2306_splice	c.e19-1	p.G769_splice	RBM19_uc001tvn.4_Splice_Site_p.G769_splice|RBM19_uc001tvm.3_Splice_Site_p.G769_splice	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	769	RRM 5.				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)					GGAGCACTCCTGAGAGAGAGAG	0.545												
OCA2	4948	broad.mit.edu	37	15	28200305	28200306	+	Splice_Site	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:28200304_28200305C>CT	uc001zbh.4	-	17	1952	c.1842_splice	c.e17+1	p.K614_splice	OCA2_uc010ayv.3_Splice_Site_p.K590_splice	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	614			K -> E (in OCA2).|K -> N (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		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)		AGCTGGGTACCTTTTTTTGGAG	0.441									Oculocutaneous Albinism			
SHMT1	6470	broad.mit.edu	37	17	18259317	18259317	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:18259316_18259316TA>T	uc002gta.3	-	2	172	c.-18_splice	c.e2-1		SHMT1_uc002gtb.3_Splice_Site|SHMT1_uc010vxt.2_Splice_Site|SHMT1_uc002gtd.1_Splice_Site|SHMT1_uc010vxu.1_Splice_Site	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGAAGCTGCCTAAAAAAATGG	0.408												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013286	+	Splice_Site	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:57013284_57013285C>CT	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGGA	0.297												
SERPINB8	5271	broad.mit.edu	37	18	61652328	61652329	+	Splice_Site	INS	-	-	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:61652327_61652328G>GA	uc002ljv.3	+	6	737	c.568_splice	c.e6-1	p.E190_splice	SERPINB8_uc002ljt.3_Splice_Site_p.E190_splice|SERPINB8_uc002lju.3_Splice_Site_p.E190_splice|SERPINB8_uc010xex.2_Splice_Site_p.E8_splice	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	190					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTTCCGTTAGGAAAAAAAGACA	0.376												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
SMARCB1	6598	broad.mit.edu	37	22	24134057	24134057	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:24134056_24134056TA>T	uc002zyd.3	+	2	412	c.205_splice	c.e2+2	p.D69_splice	SMARCB1_uc002zyg.2_Frame_Shift_Del_p.G69fs|SMARCB1_uc011ajb.1_Splice_Site_p.D69_splice|SMARCB1_uc002zya.3_Frame_Shift_Del_p.G69fs|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.G69fs|SMARCB1_uc002zyc.3_Splice_Site_p.D69_splice|SMARCB1_uc002zye.1_Frame_Shift_Del_p.G32fs|SMARCB1_uc002zyf.1_Splice_Site|SMARCB1_uc010gue.1_Splice_Site	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	78					DNA integration|cell cycle|chromatin remodeling|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	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGTCACATGGTAAAAAAACAA	0.438			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid						
CPT1B	1375	broad.mit.edu	37	22	51014627	51014628	+	Splice_Site	DEL	AT	AT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:51014626_51014627CAT>C	uc003bmm.3	-	6	798	c.699_splice	c.e6+1	p.Y233_splice	CPT1B_uc003bmk.4_Splice_Site_p.Y233_splice|CPT1B_uc003bml.3_Splice_Site_p.Y233_splice|CPT1B_uc003bmo.3_Splice_Site_p.Y233_splice|CPT1B_uc011asa.2_Splice_Site_p.Y199_splice|CPT1B_uc003bmn.3_Splice_Site_p.Y233_splice|CPT1B_uc011asb.2_Splice_Site_p.Y233_splice|CPT1B_uc003bmp.3_Splice_Site_p.Y30_splice|CPT1B_uc021wsc.1_Splice_Site	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	233					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CAGGAACTTACATAGTTACTTG	0.564											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AJAP1	55966	broad.mit.edu	37	1	4772068	4772068	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:4772068delG	uc001alm.1	+	2	519	c.138delG	c.(136-138)CCGfs	p.P46fs	AJAP1_uc001aln.2_Frame_Shift_Del_p.P46fs	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	46	Extracellular (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)		CCCTGGGCCCGGGGCCGGAGT	0.592												
SPEN	23013	broad.mit.edu	37	1	16254958	16254959	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:16254958_16254959delCT	uc001axk.1	+	11	2427_2428	c.2223_2224delCT	c.(2221-2226)CCCTCTfs	p.P741fs	SPEN_uc010obp.1_Frame_Shift_Del_p.P700fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	741_742	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGCGTCTCCCTCTCAGGCAGA	0.550												
HIVEP3	59269	broad.mit.edu	37	1	42048868	42048868	+	Frame_Shift_Del	DEL	G	G	-	rs151333512		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:42048868delG	uc001cgz.3	-	4	2814	c.1601delC	c.(1600-1602)CCTfs	p.P534fs	HIVEP3_uc001cha.3_Frame_Shift_Del_p.P534fs|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	534	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGAGGCACAGGGGGGGCGGT	0.597												
OLFML3	56944	broad.mit.edu	37	1	114523959	114523959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:114523959delC	uc001eer.1	+	3	898	c.789delC	c.(787-789)ATCfs	p.I263fs	OLFML3_uc001ees.1_Frame_Shift_Del_p.I243fs|OLFML3_uc001eet.1_Frame_Shift_Del_p.I119fs	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3 precursor	263	Olfactomedin-like.				multicellular organismal development	extracellular region					0	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGGGCTGATCCCCCCCTACG	0.557												
LASS2	29956	broad.mit.edu	37	1	150938724	150938725	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:150938724_150938725delCT	uc001evy.2	-	11	1429_1430	c.1042_1043delAG	c.(1042-1044)AGCfs	p.S348fs	LASS2_uc001evz.2_Frame_Shift_Del_p.S348fs|LASS2_uc009wmh.2_Frame_Shift_Del_p.S198fs	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	LAG1 longevity assurance 2	348	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCCTCTGAGCTCTCTGTTTCT	0.530												
KCNH1	3756	broad.mit.edu	37	1	210857408	210857408	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:210857408delG	uc001hib.2	-	11	2355	c.2185delC	c.(2185-2187)CTGfs	p.L729fs	KCNH1_uc001hic.2_Frame_Shift_Del_p.L702fs	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	729	Cytoplasmic (Potential).|Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGCAAGATCAGGGGGGCCTCA	0.572												
PROX1	5629	broad.mit.edu	37	1	214178556	214178556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:214178556delT	uc001hkh.2	+	3	2046	c.1774delT	c.(1774-1776)TTTfs	p.F592fs		NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	592	Prospero-type homeobox.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAAGCTCATGTTTTTTTATAC	0.383												
SDCCAG8	10806	broad.mit.edu	37	1	243468023	243468023	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:243468023delA	uc001hzw.2	+	7	840	c.684delA	c.(682-684)CTAfs	p.L228fs	SDCCAG8_uc010pyk.1_Frame_Shift_Del_p.L83fs|SDCCAG8_uc010pyl.1_Frame_Shift_Del_p.L40fs|SDCCAG8_uc001hzx.2_Frame_Shift_Del_p.L40fs|SDCCAG8_uc001hzy.1_Frame_Shift_Del_p.L76fs	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	228	Potential.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AGGAGAAGCTAAAACTTACTT	0.254												
ATE1	11101	broad.mit.edu	37	10	123673353	123673353	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:123673353delT	uc001lfp.2	-	4	371	c.289delA	c.(289-291)ATGfs	p.M97fs	ATE1_uc001lfq.2_Frame_Shift_Del_p.M97fs|ATE1_uc010qtr.1_Intron|ATE1_uc010qts.1_Frame_Shift_Del_p.M1fs|ATE1_uc010qtt.1_Frame_Shift_Del_p.M90fs|ATE1_uc001lfr.2_Translation_Start_Site|ATE1_uc009xzu.2_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	arginyltransferase 1 isoform 2	97					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity				0		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AATTTCAACATTTTTTTCAAA	0.378												
PHRF1	57661	broad.mit.edu	37	11	610707	610709	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:610707_610709delGGA	uc001lqe.2	+	16	4754_4756	c.4623_4625delGGA	c.(4621-4626)TCGGAG>TCG	p.E1543del	PHRF1_uc010qwc.1_In_Frame_Del_p.E1542del|PHRF1_uc010qwd.1_In_Frame_Del_p.E1541del|PHRF1_uc010qwe.1_In_Frame_Del_p.E1539del|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1543							RNA polymerase binding|zinc ion binding				0						CCAGCAACTCGGAGGAGAAGACC	0.635												
FBXO3	26273	broad.mit.edu	37	11	33792304	33792304	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:33792304delT	uc001muz.2	-	2	205	c.177delA	c.(175-177)AAAfs	p.K59fs	FBXO3_uc001muy.2_5'UTR|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Frame_Shift_Del_p.K59fs|FBXO3_uc001mvb.1_Frame_Shift_Del_p.K54fs|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	59					proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCAGCCAGTATTTTTTGCAAT	0.294												
BRMS1	25855	broad.mit.edu	37	11	66108714	66108714	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66108714delC	uc001ohp.1	-	4	468	c.321delG	c.(319-321)GGGfs	p.G107fs	BRMS1_uc001oho.1_Frame_Shift_Del_p.G107fs|BRMS1_uc009yre.2_5'Flank	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 1	107					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding				0						TCCGCTGCAGCCCCCCAAGGG	0.627												
NPAT	4863	broad.mit.edu	37	11	108044068	108044069	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:108044068_108044069insT	uc001pjz.3	-	13	1744_1745	c.1642_1643insA	c.(1642-1644)AGTfs	p.S548fs	NPAT_uc001pka.2_Frame_Shift_Ins_p.S343fs	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	548					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACAAAATTGACTTTTTTTAGAT	0.302												
HSPB2	3316	broad.mit.edu	37	11	111784474	111784475	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:111784474_111784475delCT	uc001pmg.2	+	2	498_499	c.404_405delCT	c.(403-405)GCTfs	p.A135fs	CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	NM_001541	NP_001532	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	135					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			ovary(2)|skin(1)	3		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-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;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTCCGAGCTGCTCTCTCCCATG	0.629												
ROBO3	64221	broad.mit.edu	37	11	124747920	124747921	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:124747920_124747921insG	uc001qbc.2	+	21	3266_3267	c.3074_3075insG	c.(3073-3075)GCGfs	p.A1025fs	ROBO3_uc010saq.1_3'UTR|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.1_Frame_Shift_Ins_p.A74fs|ROBO3_uc001qbe.2_5'UTR|ROBO3_uc001qbf.1_5'UTR	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	1025	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ATTGACCCAGCGGGGGAGGAGC	0.639												
ARID2	196528	broad.mit.edu	37	12	46230646	46230648	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:46230646_46230648delGAG	uc001ros.1	+	8	895_897	c.895_897delGAG	c.(895-897)GAGdel	p.E300del	ARID2_uc001ror.2_In_Frame_Del_p.E300del|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	300					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)		TCTTTCCTTTGAGGAGGGCAATG	0.409												
MLL2	8085	broad.mit.edu	37	12	49420302	49420303	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:49420302_49420303delAA	uc001rta.3	-	48	15446_15447	c.15446_15447delTT	c.(15445-15447)TTTfs	p.F5149fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5149					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						GGAAGACAGCAAAAGAGCTCAG	0.559			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
GEFT	115557	broad.mit.edu	37	12	58007272	58007274	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:58007272_58007274delAGA	uc001spb.2	+	4	918_920	c.458_460delAGA	c.(457-462)CAGAAG>CAG	p.K156del	GEFT_uc009zpy.2_In_Frame_Del_p.K195del|GEFT_uc001soz.1_In_Frame_Del_p.K30del|GEFT_uc001spa.2_In_Frame_Del_p.K50del|uc001spc.2_RNA|GEFT_uc001spd.2_5'Flank	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	156					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					GAGGAGGAACAGAAGAAGAAGGC	0.498												
MYBPC1	4604	broad.mit.edu	37	12	102043102	102043102	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:102043102delA	uc001tii.2	+	13	1288	c.1186delA	c.(1186-1188)AAAfs	p.K396fs	MYBPC1_uc001tif.1_Frame_Shift_Del_p.K409fs|MYBPC1_uc001tig.2_Frame_Shift_Del_p.K421fs|MYBPC1_uc010svq.1_Frame_Shift_Del_p.K383fs|MYBPC1_uc001tih.2_Frame_Shift_Del_p.K421fs|MYBPC1_uc001tij.2_Frame_Shift_Del_p.K396fs|MYBPC1_uc010svr.1_Frame_Shift_Del_p.K396fs|MYBPC1_uc010svs.1_Frame_Shift_Del_p.K396fs|MYBPC1_uc010svt.1_Frame_Shift_Del_p.K384fs|MYBPC1_uc010svu.1_Frame_Shift_Del_p.K377fs|MYBPC1_uc001tik.2_Frame_Shift_Del_p.K370fs	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	396	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						AGTTGAGGGTAAAAAACACAT	0.348												
NCOR2	9612	broad.mit.edu	37	12	124856837	124856837	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:124856837delG	uc010tba.1	-	20	2655	c.2538delC	c.(2536-2538)CCCfs	p.P846fs	NCOR2_uc010tay.1_Frame_Shift_Del_p.P846fs|NCOR2_uc010taz.1_Frame_Shift_Del_p.P829fs|NCOR2_uc010tbb.1_Frame_Shift_Del_p.P846fs|NCOR2_uc010tbc.1_Frame_Shift_Del_p.P828fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.P846fs	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	846					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTCAGCCGCGGGGGGCTTCT	0.697												
SACS	26278	broad.mit.edu	37	13	23908236	23908238	+	In_Frame_Del	DEL	TCT	TCT	-	rs148545339	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:23908236_23908238delTCT	uc001uon.2	-	10	10366_10368	c.9777_9779delAGA	c.(9775-9780)GAAGAT>GAT	p.E3259del	SACS_uc001uoo.2_In_Frame_Del_p.E3112del|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3259					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)		TTCTTCCTGATCTTCTTTCACAC	0.369												
NBEA	26960	broad.mit.edu	37	13	36125104	36125104	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:36125104delA	uc001uvb.2	+	43	6947	c.6741delA	c.(6739-6741)GTAfs	p.V2247fs	NBEA_uc010abi.2_Frame_Shift_Del_p.V903fs|NBEA_uc010tee.1_Frame_Shift_Del_p.V40fs|NBEA_uc010tef.1_Frame_Shift_Del_p.V40fs|NBEA_uc010teg.1_Frame_Shift_Del_p.V40fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2247						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAGCAACAGTAAAAAAAGTTG	0.378												
EDNRB	1910	broad.mit.edu	37	13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:78475267delA	uc001vko.2	-	4	1135	c.877delT	c.(877-879)TATfs	p.Y293fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.Y293fs|uc001vkn.1_Intron|EDNRB_uc010aez.1_Frame_Shift_Del_p.Y293fs|EDNRB_uc001vkp.1_Frame_Shift_Del_p.Y376fs	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	293	Helical; Name=5; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATTAGTGTATAAAAAAATGCA	0.343												
ATP4B	496	broad.mit.edu	37	13	114303832	114303832	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:114303832delG	uc001vtz.2	-	7	775	c.733delC	c.(733-735)CTGfs	p.L245fs		NM_000705	NP_000696	P51164	ATP4B_HUMAN	hydrogen/potassium-exchanging ATPase 4B	245	Extracellular (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	GCTGCCACCAGGGGGTTGCTG	0.537												
AKAP6	9472	broad.mit.edu	37	14	33015029	33015029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:33015029delA	uc001wrq.2	+	4	1340	c.1170delA	c.(1168-1170)CCAfs	p.P390fs	AKAP6_uc010aml.2_Frame_Shift_Del_p.P387fs	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	390					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTACATTGCCAAAAAGAGGAC	0.418												
OTX2	5015	broad.mit.edu	37	14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:57271049delG	uc001xcp.2	-	2	277	c.106delC	c.(106-108)CGGfs	p.R36fs	OTX2_uc010aou.2_Frame_Shift_Del_p.R36fs|OTX2_uc001xcq.2_Frame_Shift_Del_p.R44fs	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E 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			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CGCTGTTTCCGGGGGGTGGCT	0.632												
DIO2	1734	broad.mit.edu	37	14	80677760	80677760	+	Frame_Shift_Del	DEL	A	A	-	rs148778534		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:80677760delA	uc010tvq.1	-	2	458	c.56delT	c.(55-57)TTCfs	p.F19fs	uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Frame_Shift_Del_p.F19fs|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Frame_Shift_Del_p.F19fs|DIO2_uc010tvr.1_Frame_Shift_Del_p.F19fs|DIO2_uc010asy.2_Frame_Shift_Del_p.F19fs	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	19	Helical; (Potential).				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCAGTTGGAGAAAAAAACTGG	0.557												
WDR20	91833	broad.mit.edu	37	14	102675067	102675067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:102675067delC	uc001ykz.2	+	3	609	c.560delC	c.(559-561)GCCfs	p.A187fs	WDR20_uc001yky.1_Intron|WDR20_uc001yla.2_Frame_Shift_Del_p.A63fs|WDR20_uc001ylb.2_Frame_Shift_Del_p.A126fs|WDR20_uc010txu.1_Frame_Shift_Del_p.A218fs|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Frame_Shift_Del_p.A187fs|WDR20_uc001yle.2_Frame_Shift_Del_p.A126fs|WDR20_uc001ylf.2_Frame_Shift_Del_p.A199fs	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	187	WD 1.										0						GGCACCACAGCCCCCCACTAC	0.537												
PAK6	56924	broad.mit.edu	37	15	40558255	40558255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:40558255delC	uc010bbl.2	+	5	857	c.417delC	c.(415-417)GACfs	p.D139fs	PAK6_uc010bbm.2_Frame_Shift_Del_p.D139fs|PAK6_uc001zky.3_Frame_Shift_Del_p.D139fs|PAK6_uc010bbn.2_Frame_Shift_Del_p.D139fs|PAK6_uc001zlb.2_Frame_Shift_Del_p.D139fs	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	139	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AGCGCACTGACCCCCACGGCC	0.701												
B2M	567	broad.mit.edu	37	15	45007824	45007825	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:45007824_45007825insC	uc001zuc.2	+	2	331_332	c.271_272insC	c.(271-273)ACCfs	p.T91fs	B2M_uc010uek.1_Frame_Shift_Ins_p.T91fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	91	Ig-like C1-type.				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)		CACTGAATTCACCCCCACTGAA	0.416												
DENND4A	10260	broad.mit.edu	37	15	65994675	65994675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:65994675delT	uc002aph.2	-	17	2776	c.2398delA	c.(2398-2400)ATGfs	p.M800fs	DENND4A_uc002api.2_Frame_Shift_Del_p.M800fs|DENND4A_uc002apj.3_Frame_Shift_Del_p.M800fs	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	800	PPR 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TTTGACTGCATTTTTTTAAGC	0.279												
IREB2	3658	broad.mit.edu	37	15	78777134	78777134	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:78777134delA	uc002bdr.2	+	12	1607	c.1445delA	c.(1444-1446)GAAfs	p.E482fs	IREB2_uc010unb.1_Frame_Shift_Del_p.E232fs	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	482							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ATTGCAGCTGAAAAACAAAAG	0.333												
NDE1	54820	broad.mit.edu	37	16	15788046	15788046	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:15788046delC	uc002ddt.1	+	6	771	c.728delC	c.(727-729)ACCfs	p.T243fs	NDE1_uc010uzy.1_Frame_Shift_Del_p.T243fs|NDE1_uc002dds.2_Frame_Shift_Del_p.T243fs|NDE1_uc002ddu.1_Frame_Shift_Del_p.T180fs	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	243	Interaction with CENPF (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1						ACCGGGGGGACCCCCCTCACA	0.562												
ITGAD	3681	broad.mit.edu	37	16	31422111	31422111	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:31422111delC	uc002ebv.1	+	12	1317	c.1268delC	c.(1267-1269)GCCfs	p.A423fs	ITGAD_uc010cap.1_Frame_Shift_Del_p.A423fs	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	423	FG-GAP 4.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						GTCCTGGGGGCCCCCCGCTAC	0.647												
DNAJA2	10294	broad.mit.edu	37	16	47005467	47005468	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:47005467_47005468delAA	uc002eeo.2	-	3	297_298	c.155_156delTT	c.(154-156)TTTfs	p.F52fs	DNAJA2_uc002eep.2_5'UTR	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	52	J.				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CTTCATATGCAAAACTTATTTC	0.391												
SENP3	26168	broad.mit.edu	37	17	7466956	7466956	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:7466956delC	uc002ghm.2	+	2	836	c.563delC	c.(562-564)TCCfs	p.S188fs	EIF4A1_uc002gho.1_5'Flank|SENP3_uc002ghn.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	188					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				CGTTTTGACTCCCCCCGGGGG	0.597												
MPRIP	23164	broad.mit.edu	37	17	17046886	17046886	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:17046886delC	uc002gqu.1	+	9	1108	c.1052delC	c.(1051-1053)GCCfs	p.A351fs	MPRIP_uc002gqv.1_Frame_Shift_Del_p.A351fs|MPRIP_uc002gqw.1_Intron	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	351	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding				0						ACCAATGAAGCCCCCCCAGCT	0.652												
PIGW	284098	broad.mit.edu	37	17	34893474	34893474	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:34893474delT	uc002hmy.1	+	2	567	c.524delT	c.(523-525)GTTfs	p.V175fs	MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Frame_Shift_Del_p.V175fs	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan, class W	175	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTGGCTTTGTTTTTGGGTCT	0.423												
STAT5B	6777	broad.mit.edu	37	17	40379600	40379600	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:40379600delC	uc002hzh.2	-	3	401	c.232delG	c.(232-234)GAAfs	p.E78fs	STAT5B_uc002hzi.3_Frame_Shift_Del_p.E78fs	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	78					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AACCCATCTTCCCCCACCTGG	0.552												
TBX4	9496	broad.mit.edu	37	17	59560345	59560345	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:59560345delC	uc002izi.2	+	8	1151	c.1106delC	c.(1105-1107)TCCfs	p.S369fs	TBX4_uc010ddo.2_Frame_Shift_Del_p.S370fs|TBX4_uc010woy.1_Frame_Shift_Del_p.S370fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	369					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						TATTTCCGTTCCCCCCCTCCC	0.577												
LAMA3	3909	broad.mit.edu	37	18	21451595	21451595	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:21451595delC	uc002kuq.2	+	38	5054	c.4968delC	c.(4966-4968)TGCfs	p.C1656fs	LAMA3_uc002kur.2_Frame_Shift_Del_p.C1656fs|LAMA3_uc002kus.3_5'Flank|LAMA3_uc002kut.3_5'Flank	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1656	Domain III A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTGTGCCTGCCCCCCTGCCT	0.572												
CXXC1	30827	broad.mit.edu	37	18	47810449	47810449	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:47810449delG	uc002leq.3	-	10	1961	c.1228delC	c.(1228-1230)CAGfs	p.Q410fs	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Frame_Shift_Del_p.Q267fs|CXXC1_uc002ler.3_Frame_Shift_Del_p.Q414fs|CXXC1_uc010doy.2_Frame_Shift_Del_p.Q410fs|CXXC1_uc002les.2_Frame_Shift_Del_p.Q410fs	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	410					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TGGATGCGCTGGGGGAGGATC	0.557												
ALPK2	115701	broad.mit.edu	37	18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:56246941delA	uc002lhj.3	-	4	1281	c.1067delT	c.(1066-1068)TTAfs	p.L356fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	356							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						GCTTTCTAATAAAAAAACATG	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SERPINB8	5271	broad.mit.edu	37	18	61652327	61652328	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:61652327_61652328insA	uc002ljv.2	+	6	737_738	c.568_569insA	c.(568-570)GAAfs	p.E190fs	SERPINB8_uc002ljt.2_Frame_Shift_Ins_p.E190fs|SERPINB8_uc002lju.2_Frame_Shift_Ins_p.E190fs|SERPINB8_uc010xex.1_Frame_Shift_Ins_p.E8fs	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	190					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				TTTCCGTTAGGAAAAAAAGACA	0.376												
ZNF236	7776	broad.mit.edu	37	18	74639295	74639295	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:74639295delG	uc002lmi.2	+	24	4428	c.4230delG	c.(4228-4230)ACGfs	p.T1410fs	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1410					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCAGCTCACGGGGGAGCCTG	0.552												
CIRBP	1153	broad.mit.edu	37	19	1271433	1271433	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1271433delG	uc002lrr.3	+	4	465	c.316delG	c.(316-318)GGGfs	p.G106fs	C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Frame_Shift_Del_p.G95fs|CIRBP_uc002lrt.2_Frame_Shift_Del_p.G106fs|CIRBP_uc010xgl.1_Intron|CIRBP_uc002lrv.3_Frame_Shift_Del_p.G106fs|CIRBP_uc002lru.2_RNA	NM_001280	NP_001271	Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	106	Gly-rich.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		CTTCTTCCGTGGGGGCCGAGG	0.642												
REXO1	57455	broad.mit.edu	37	19	1827647	1827647	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1827647delT	uc002lua.3	-	2	1236	c.1141delA	c.(1141-1143)ACCfs	p.T381fs	REXO1_uc010dsr.1_Frame_Shift_Del_p.T335fs	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	381						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|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)		GGGGCCCCGGTTTTTTTCTTC	0.682												
SNAPC2	6618	broad.mit.edu	37	19	7987213	7987213	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:7987213delC	uc002miw.1	+	4	689	c.666delC	c.(664-666)AGCfs	p.S222fs	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	222					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						GTGGCCGCAGCCCCGAGCTCT	0.602												
MUC16	94025	broad.mit.edu	37	19	9059156	9059157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:9059156_9059157insT	uc002mkp.2	-	3	28493_28494	c.28289_28290insA	c.(28288-28290)AACfs	p.N9430fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9432	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						ATGGAGGGCTGTTTTTTTCCAC	0.510												
ZNF20	7568	broad.mit.edu	37	19	12244669	12244670	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12244669_12244670insCA	uc002mtf.1	-	4	474_475	c.331_332insTG	c.(331-333)GGAfs	p.G111fs	ZNF20_uc002mte.1_Frame_Shift_Ins_p.G76fs|ZNF20_uc002mtg.1_Frame_Shift_Ins_p.G111fs	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	111	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCAACTTCTCCACACACACTG	0.431												
TSHZ3	57616	broad.mit.edu	37	19	31769142	31769142	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:31769142delC	uc002nsy.3	-	2	1622	c.1557delG	c.(1555-1557)GGGfs	p.G519fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	519					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)					GGATATCAAGCCCCCCCTTGG	0.498												
MLL4	9757	broad.mit.edu	37	19	36215931	36215935	+	Frame_Shift_Del	DEL	CTGGA	CTGGA	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:36215931_36215935delCTGGA	uc010eei.2	+	11	3471_3475	c.3471_3475delCTGGA	c.(3469-3477)GGCTGGACTfs	p.G1157fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1157_1159					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTCCCAATGGCTGGACTGGAAAGCA	0.576												
DPF1	8193	broad.mit.edu	37	19	38709609	38709611	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:38709609_38709611delTCT	uc002ohl.2	-	4	494_496	c.467_469delAGA	c.(466-471)AAGATT>ATT	p.K156del	DPF1_uc002ohm.2_In_Frame_Del_p.K156del|DPF1_uc002ohn.2_In_Frame_Del_p.K74del|DPF1_uc010xtu.1_In_Frame_Del_p.K130del|DPF1_uc010xtv.1_In_Frame_Del_p.K130del|DPF1_uc010xtw.1_In_Frame_Del_p.K130del	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	156					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCAGCTCAATCTTCTTCTCCCC	0.640												
NUMBL	9253	broad.mit.edu	37	19	41183178	41183178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:41183178delC	uc002oon.2	-	7	857	c.689delG	c.(688-690)GGTfs	p.G230fs	NUMBL_uc010xvq.1_Frame_Shift_Del_p.G189fs|NUMBL_uc002ooo.2_Frame_Shift_Del_p.G230fs|NUMBL_uc010xvr.1_Frame_Shift_Del_p.G189fs	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	230					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGGCCGCCCACCCCCAGACAG	0.662												
FOXA3	3171	broad.mit.edu	37	19	46375988	46375988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:46375988delC	uc002pdr.2	+	2	922	c.725delC	c.(724-726)ACCfs	p.T242fs		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	242					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)	1		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TCGACCACCACCCCCGCGGCC	0.692												
TTC15	51112	broad.mit.edu	37	2	3405588	3405588	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:3405588delA	uc002qxm.1	+	3	1294	c.1088delA	c.(1087-1089)GAAfs	p.E363fs	TTC15_uc002qxn.1_Frame_Shift_Del_p.E363fs|TTC15_uc010ewm.1_Frame_Shift_Del_p.E363fs	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	363							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		TTTCTGGGTGAAAAAGCTGCA	0.383												
ZFP36L2	678	broad.mit.edu	37	2	43452037	43452039	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:43452037_43452039delGGA	uc002rsv.3	-	2	1195_1197	c.904_906delTCC	c.(904-906)TCCdel	p.S302del	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	302					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				aggaggaggcggaggaggagcag	0.606												
RHOQ	23433	broad.mit.edu	37	2	46808174	46808174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:46808174delA	uc002rva.2	+	5	889	c.570delA	c.(568-570)GTAfs	p.V190fs	uc002rvb.2_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	ras-like protein TC10 precursor	190					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AACACACTGTAAAAAAAAGAA	0.368												
DPP4	1803	broad.mit.edu	37	2	162891779	162891780	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:162891779_162891780insA	uc002ubz.2	-	9	1229_1230	c.668_669insT	c.(667-669)TTAfs	p.L223fs	DPP4_uc010fpb.2_5'UTR	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	223	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)	GGGCATATGCTAAAAAAGTGCC	0.421												
CHMP4B	128866	broad.mit.edu	37	20	32399335	32399336	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:32399335_32399336insC	uc002xaa.2	+	1	217_218	c.61_62insC	c.(61-63)ACCfs	p.T21fs		NM_176812	NP_789782	Q9H444	CHM4B_HUMAN	chromatin modifying protein 4B	21					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(1)|central_nervous_system(1)	2						GGGCGGCCCGACCCCCCAGGAG	0.550												
RAD18	56852	broad.mit.edu	37	3	8944121	8944121	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:8944121delT	uc003brd.2	-	10	1188	c.1111delA	c.(1111-1113)ACAfs	p.T371fs	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	371					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ATTGTTACTGTTTTTTGTGAC	0.318								Rad6_pathway				
PLXNB1	5364	broad.mit.edu	37	3	48455444	48455446	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:48455444_48455446delCCT	uc003csw.2	-	22	4514_4516	c.4244_4246delAGG	c.(4243-4248)GAGGTG>GTG	p.E1415del	PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_In_Frame_Del_p.E1232del|PLXNB1_uc003csx.2_In_Frame_Del_p.E1415del|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1415	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)		ATAGCCACCACCTCCTCCTTGGA	0.621												
COL7A1	1294	broad.mit.edu	37	3	48624754	48624754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:48624754delG	uc003ctz.2	-	23	3009	c.3008delC	c.(3007-3009)CCGfs	p.P1003fs		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1003	Nonhelical region (NC1).|Fibronectin type-III 9.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGTGTCTGCGGGGACCCAGG	0.602												
RBM5	10181	broad.mit.edu	37	3	50144924	50144924	+	Frame_Shift_Del	DEL	C	C	-	rs138796501	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:50144924delC	uc003cyg.2	+	12	1111	c.963delC	c.(961-963)GTCfs	p.V321fs	RBM5_uc011bdj.1_Frame_Shift_Del_p.V265fs|RBM5_uc011bdk.1_Frame_Shift_Del_p.V149fs	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	321	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGACTTGGTCCTCTCAGATG	0.478												
GNL3	26354	broad.mit.edu	37	3	52720836	52720836	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:52720836delA	uc003dfd.2	+	2	238	c.65delA	c.(64-66)CAAfs	p.Q22fs	PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Frame_Shift_Del_p.Q10fs|GNL3_uc003dff.2_Frame_Shift_Del_p.Q10fs|SNORD19_uc003dfg.1_5'Flank	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3	22	Basic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TATAAAATCCAAAAAAAGGTA	0.388												
PHLDB2	90102	broad.mit.edu	37	3	111664163	111664163	+	Frame_Shift_Del	DEL	G	G	-	rs144826196	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:111664163delG	uc010hqa.2	+	9	2857	c.2446delG	c.(2446-2448)GGGfs	p.G816fs	PHLDB2_uc003dyc.2_Frame_Shift_Del_p.G800fs|PHLDB2_uc003dyd.2_Frame_Shift_Del_p.G773fs|PHLDB2_uc003dyg.2_Frame_Shift_Del_p.G816fs|PHLDB2_uc003dyh.2_Frame_Shift_Del_p.G773fs|PHLDB2_uc003dyi.2_Frame_Shift_Del_p.G402fs	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	816						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						CAGCCTCTCTGGGGGGAAAGG	0.373												
NLGN1	22871	broad.mit.edu	37	3	173996895	173996895	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:173996895delC	uc003fio.1	+	6	1527	c.1104delC	c.(1102-1104)GACfs	p.D368fs	NLGN1_uc010hww.1_Frame_Shift_Del_p.D408fs|NLGN1_uc003fip.1_Frame_Shift_Del_p.D368fs	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	385	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACCAGACGACCCCCAGATAT	0.393												
PIGG	54872	broad.mit.edu	37	4	515054	515055	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:515054_515055insT	uc003gak.3	+	7	1460_1461	c.1324_1325insT	c.(1324-1326)GTTfs	p.V442fs	PIGG_uc003gaj.3_Intron|PIGG_uc011bux.1_Intron|PIGG_uc010ibf.2_Frame_Shift_Ins_p.V309fs|PIGG_uc003gal.3_Frame_Shift_Ins_p.V353fs|PIGG_uc003gai.2_Intron|PIGG_uc011buw.1_Intron|PIGG_uc003gam.2_Intron|PIGG_uc003gan.2_Frame_Shift_Ins_p.V353fs	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	442	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						GACTGTCGTGGTTTTGGAGGTA	0.436												
PCGF3	10336	broad.mit.edu	37	4	755175	755175	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:755175delA	uc011bva.1	+	10	1046	c.571delA	c.(571-573)AAAfs	p.K191fs	PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Frame_Shift_Del_p.K191fs|PCGF3_uc010ibh.2_Frame_Shift_Del_p.K191fs|PCGF3_uc003gbg.1_Frame_Shift_Del_p.K157fs|PCGF3_uc003gbh.2_Frame_Shift_Del_p.K157fs	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0						GTTCATCGCCAAAAAACTCAA	0.473												
ADD1	118	broad.mit.edu	37	4	2930187	2930188	+	In_Frame_Ins	INS	-	-	AAG			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:2930187_2930188insAAG	uc003gfr.2	+	15	2339_2340	c.2151_2152insAAG	c.(2149-2154)insAAG	p.721_722insK	ADD1_uc003gfn.2_RNA|ADD1_uc003gfo.2_3'UTR|ADD1_uc003gfp.2_3'UTR|ADD1_uc003gfq.2_In_Frame_Ins_p.752_753insK|ADD1_uc003gfs.2_3'UTR	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	721_722	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCCGTCCAAAAAGAAGAAGAA	0.619												
LYAR	55646	broad.mit.edu	37	4	4285458	4285458	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:4285458delA	uc011bvy.1	-	3	155	c.12delT	c.(10-12)TTTfs	p.F4fs	LYAR_uc003ght.2_Frame_Shift_Del_p.F4fs	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	4						nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CATTGCATGTAAAAAATACCA	0.333												
STX18	53407	broad.mit.edu	37	4	4436579	4436580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:4436579_4436580insT	uc003gic.2	-	7	703_704	c.619_620insA	c.(619-621)ATTfs	p.I207fs		NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	syntaxin 18	207	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		TTCAGCCAAAATTTTTTCTGTT	0.361												
BST1	683	broad.mit.edu	37	4	15717330	15717330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:15717330delT	uc003goh.3	+	6	807	c.612delT	c.(610-612)GGTfs	p.G204fs	BST1_uc003goi.2_Frame_Shift_Del_p.G15fs	NM_004334	NP_004325	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1 precursor	204					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)	1						TGTTTCTCAGTTTTTTTGCAG	0.318												
DHX15	1665	broad.mit.edu	37	4	24550501	24550502	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:24550501_24550502insT	uc003gqx.2	-	6	1392_1393	c.1224_1225insA	c.(1222-1227)AAACAGfs	p.K408fs		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	408_409	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				GCTCCATTCTGTTTTTTGGGAG	0.351												
COL25A1	84570	broad.mit.edu	37	4	109767322	109767322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:109767322delT	uc003hze.1	-	27	2019	c.1488delA	c.(1486-1488)AAAfs	p.K496fs	COL25A1_uc003hzg.2_Frame_Shift_Del_p.K496fs|COL25A1_uc003hzd.2_Intron|COL25A1_uc003hzf.2_Frame_Shift_Del_p.K254fs	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	496	Extracellular (Potential).|Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CAATTCCTCCTTTTTCACCTG	0.373												
UGT8	7368	broad.mit.edu	37	4	115597234	115597234	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:115597234delT	uc003ibs.2	+	6	1938	c.1416delT	c.(1414-1416)TATfs	p.Y472fs	UGT8_uc003ibt.2_Frame_Shift_Del_p.Y472fs|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	472	Helical; (Potential).				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TTTGTCAGTATTTTTTACTGG	0.388												
ANKRD50	57182	broad.mit.edu	37	4	125590698	125590699	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:125590698_125590699delCT	uc003ifg.3	-	3	3999_4000	c.3733_3734delAG	c.(3733-3735)AGTfs	p.S1245fs	ANKRD50_uc011cgo.1_Frame_Shift_Del_p.S1066fs|ANKRD50_uc010inw.2_Frame_Shift_Del_p.S1245fs	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1245	Ser-rich.									central_nervous_system(1)	1						TGAATTATGACTCTGTCCTAAG	0.416												
CLCN3	1182	broad.mit.edu	37	4	170618378	170618379	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:170618378_170618379insT	uc003isi.2	+	9	1565_1566	c.1056_1057insT	c.(1054-1059)TCATTTfs	p.S352fs	CLCN3_uc003ish.2_Frame_Shift_Ins_p.S352fs|CLCN3_uc011cjz.1_Frame_Shift_Ins_p.S335fs|CLCN3_uc011cka.1_Frame_Shift_Ins_p.S325fs|CLCN3_uc003isj.1_Frame_Shift_Ins_p.S325fs	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	352_353	Helical; (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TATGGAGATCATTTTTTGCTGC	0.317												
DNAH5	1767	broad.mit.edu	37	5	13751371	13751371	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:13751371delT	uc003jfd.2	-	65	11071	c.11029_splice	c.e65-1	p.V3677_splice	DNAH5_uc003jfc.2_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AACTTTCACCttttttataaa	0.318									Kartagener_syndrome			
ERCC8	1161	broad.mit.edu	37	5	60224781	60224781	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:60224781delA	uc003jsm.3	-	2	153	c.83delT	c.(82-84)TTGfs	p.L28fs	ERCC8_uc003jsl.3_5'UTR|ERCC8_uc011cqp.1_5'UTR|ERCC8_uc003jsn.3_Frame_Shift_Del_p.L28fs	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	28					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TTCCAGTCCCAAAACTCTTAA	0.308								Direct_reversal_of_damage|NER				
ADAMTS6	11174	broad.mit.edu	37	5	64569200	64569200	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:64569200delC	uc003jtp.2	-	12	2401	c.1587delG	c.(1585-1587)GGGfs	p.G529fs	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Frame_Shift_Del_p.G150fs	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	529	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GACACAGTGTCCCCTCAGCTG	0.423												
MAT2B	27430	broad.mit.edu	37	5	162943585	162943586	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:162943585_162943586delTG	uc003lzk.2	+	5	696_697	c.588_589delTG	c.(586-591)GCTGTGfs	p.A196fs	MAT2B_uc003lzj.2_Frame_Shift_Del_p.A185fs|MAT2B_uc003lzl.1_Frame_Shift_Del_p.A196fs|MAT2B_uc003lzm.2_5'Flank	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta isoform	196_197					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			upper_aerodigestive_tract(1)	1	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AAGAAAGTGCTGTGACTGTTAT	0.421												
HFE	3077	broad.mit.edu	37	6	26092988	26092989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:26092988_26092989insC	uc003nfx.1	+	4	852_853	c.692_693insC	c.(691-693)TACfs	p.Y231fs	HFE_uc003nfy.1_Frame_Shift_Ins_p.Y208fs|HFE_uc010jqe.1_Frame_Shift_Ins_p.Y228fs|HFE_uc003nfz.1_Frame_Shift_Ins_p.Y143fs|HFE_uc003ngd.1_Frame_Shift_Ins_p.Y129fs|HFE_uc003nga.1_Frame_Shift_Ins_p.Y217fs|HFE_uc003ngb.1_Frame_Shift_Ins_p.Y125fs|HFE_uc003ngc.1_Frame_Shift_Ins_p.Y139fs|HFE_uc003nge.1_Frame_Shift_Ins_p.Y51fs|HFE_uc003ngf.1_Intron	NM_000410	NP_000401	Q30201	HFE_HUMAN	hemochromatosis protein isoform 1 precursor	231	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding				0						TTGAACTACTACCCCCAGAACA	0.515									Hemochromatosis			
TNXB	7148	broad.mit.edu	37	6	32020536	32020536	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:32020536delC	uc003nzl.2	-	26	9222	c.9020delG	c.(9019-9021)GGCfs	p.G3007fs		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3054	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGGCTCCAGGCCCCCCACGGT	0.667												
RNF8	9025	broad.mit.edu	37	6	37328304	37328304	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:37328304delT	uc003onq.3	+	2	387	c.194delT	c.(193-195)GTTfs	p.V65fs	RNF8_uc003onr.3_Frame_Shift_Del_p.V65fs|RNF8_uc011dtx.1_5'UTR	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1	65	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						AACCACTGTGTTTTGAAGCAG	0.388												
CDC5L	988	broad.mit.edu	37	6	44374080	44374081	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:44374080_44374081insA	uc003oxl.2	+	7	1038_1039	c.779_780insA	c.(778-780)AGAfs	p.R260fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	260	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAGAGATAGAAAAAAAGACA	0.297												
PHF3	23469	broad.mit.edu	37	6	64423004	64423005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:64423004_64423005insC	uc003pep.1	+	15	5546_5547	c.5520_5521insC	c.(5518-5523)CTTCCCfs	p.L1840fs	PHF3_uc003pen.2_Frame_Shift_Ins_p.L1752fs|PHF3_uc011dxs.1_Frame_Shift_Ins_p.L1109fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1840_1841	Pro-rich.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTCCATTACTTCCCCCTCCAGG	0.515												
ROS1	6098	broad.mit.edu	37	6	117714409	117714409	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:117714409delT	uc003pxp.1	-	11	1439	c.1240delA	c.(1240-1242)ATTfs	p.I414fs	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	414	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGCCACAATTTTTTGAGGT	0.343			T	GOPC|ROS1	glioblastoma|NSCLC							
ZDHHC14	79683	broad.mit.edu	37	6	158049476	158049477	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:158049476_158049477delAC	uc003qqt.2	+	4	1158_1159	c.661_662delAC	c.(661-663)ACAfs	p.T221fs	ZDHHC14_uc003qqs.2_Frame_Shift_Del_p.T221fs|ZDHHC14_uc010kjm.1_Frame_Shift_Del_p.T116fs|ZDHHC14_uc003qqu.1_5'Flank	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	221	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GTCTTTTCTGACAGTCTTTATA	0.381												
QKI	9444	broad.mit.edu	37	6	163876309	163876310	+	Splice_Site	DEL	AG	AG	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:163876309_163876310delAG	uc003qui.2	+	2	694	c.143_splice	c.e2-1	p.E48_splice	QKI_uc003que.2_Splice_Site_p.E48_splice|QKI_uc003quf.2_Splice_Site_p.E48_splice|QKI_uc003qug.2_Splice_Site_p.E48_splice|QKI_uc003quh.2_Splice_Site_p.E48_splice|QKI_uc003quj.2_Splice_Site_p.E48_splice	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform						mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TACTTTTAACAGAAATTAGCAG	0.366												
ZKSCAN5	23660	broad.mit.edu	37	7	99103706	99103706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:99103706delC	uc003uqv.2	+	2	163	c.39delC	c.(37-39)GACfs	p.D13fs	ZKSCAN5_uc010lfx.2_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqw.2_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqx.2_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqy.2_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	13					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAGACTTAGACCCCCCAGCTG	0.483												
C7orf43	55262	broad.mit.edu	37	7	99754484	99754484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:99754484delG	uc003utr.2	-	6	1157	c.977delC	c.(976-978)CCTfs	p.P326fs	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Frame_Shift_Del_p.P94fs|C7orf43_uc003uts.2_Frame_Shift_Del_p.P57fs	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	326											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCCCTGGAGGGGGCTGCTC	0.597												
GPC2	221914	broad.mit.edu	37	7	99769525	99769525	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:99769525delG	uc003utv.2	-	7	1215	c.1047delC	c.(1045-1047)CCCfs	p.P349fs	GPC2_uc010lgr.2_RNA	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor	349						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P349T(1)		breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACCGGGTCGGGGGGGCCGC	0.721												
GIGYF1	64599	broad.mit.edu	37	7	100280373	100280373	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:100280373delG	uc003uwg.1	-	20	3449	c.2440delC	c.(2440-2442)CTGfs	p.L814fs		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	814										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CACTGGTTCAGGGGGGCAGTG	0.647												
SLC26A7	115111	broad.mit.edu	37	8	92352747	92352747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:92352747delA	uc003yex.2	+	9	1272	c.994delA	c.(994-996)AAAfs	p.K332fs	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Frame_Shift_Del_p.K332fs|SLC26A7_uc003yfa.2_Frame_Shift_Del_p.K332fs	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	332	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGGATCTGCCAAAAAATTCAA	0.502												
SMARCA2	6595	broad.mit.edu	37	9	2181665	2181665	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:2181665delA	uc003zhc.2	+	30	4447	c.4348delA	c.(4348-4350)AAAfs	p.K1450fs	SMARCA2_uc003zhd.2_Frame_Shift_Del_p.K1432fs|SMARCA2_uc010mha.2_Frame_Shift_Del_p.K1365fs|SMARCA2_uc011llw.1_Frame_Shift_Del_p.K136fs|SMARCA2_uc003zhf.2_Frame_Shift_Del_p.K114fs|SMARCA2_uc011llx.1_Frame_Shift_Del_p.K96fs|SMARCA2_uc003zhe.2_Frame_Shift_Del_p.K138fs|SMARCA2_uc003zhg.2_Frame_Shift_Del_p.K96fs|SMARCA2_uc010mhb.2_Frame_Shift_Del_p.K120fs	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1450	Bromo.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGTGGATTTCAAAAAAATAAA	0.363												
KIAA1797	54914	broad.mit.edu	37	9	20912931	20912931	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:20912931delA	uc003zog.1	+	25	3148	c.2785delA	c.(2785-2787)AAAfs	p.K929fs	KIAA1797_uc003zoh.1_Frame_Shift_Del_p.K365fs	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	929						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		GGTGCAGTACAAAAAAAGCAC	0.438												
TJP2	9414	broad.mit.edu	37	9	71835953	71835953	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:71835953delG	uc004ahe.2	+	5	693	c.493delG	c.(493-495)GGGfs	p.G165fs	TJP2_uc011lrs.1_Frame_Shift_Del_p.G142fs|TJP2_uc004ahb.1_Frame_Shift_Del_p.G142fs|TJP2_uc011lrt.1_Frame_Shift_Del_p.G142fs|TJP2_uc004ahd.2_Frame_Shift_Del_p.G165fs|TJP2_uc004ahf.2_Frame_Shift_Del_p.G165fs|TJP2_uc011lru.1_Frame_Shift_Del_p.G169fs|TJP2_uc011lrv.1_Frame_Shift_Del_p.G187fs	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	165					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GAACAGCCATGGGGGGCGCAG	0.682												
CEP110	11064	broad.mit.edu	37	9	123924525	123924525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:123924525delA	uc004bkx.1	+	32	5430	c.5399delA	c.(5398-5400)GAAfs	p.E1800fs	CEP110_uc004blb.1_Frame_Shift_Del_p.E469fs|CEP110_uc010mvp.1_Intron	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1800	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						GACATTTGGGAAAAAAAGTTG	0.383												
SLC27A4	10999	broad.mit.edu	37	9	131112647	131112649	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:131112647_131112649delGTG	uc004but.2	+	5	1056_1058	c.772_774delGTG	c.(772-774)GTGdel	p.V259del	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	259					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						GGCCGCCATCGTGGTGCACAGCA	0.635												
ZXDB	158586	broad.mit.edu	37	X	57620306	57620307	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:57620306_57620307delTC	uc004dvd.2	+	1	2038_2039	c.1825_1826delTC	c.(1825-1827)TCTfs	p.S609fs		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	609	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AGAGATAGTGTCTCTCTTCTCT	0.475												
ITGB1BP2	26548	broad.mit.edu	37	X	70521660	70521661	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:70521660_70521661delTC	uc004dzr.1	+	1	33_34	c.4_5delTC	c.(4-6)TCTfs	p.S2fs	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_5'UTR	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	2					muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					CGCTTCCATGTCTCTACTCTGT	0.510												
RHOXF2B	727940	broad.mit.edu	37	X	119293217	119293217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:119293217delG	uc004esl.3	+	2	566	c.376delG	c.(376-378)GGGfs	p.G126fs		NM_001099685	NP_001093155	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGCGCCGTCGGGGGGCTGGA	0.662												
FGF13	2258	broad.mit.edu	37	X	137939823	137939823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:137939823delG	uc004faq.2	-	2	244	c.68delC	c.(67-69)CCTfs	p.P23fs	FGF13_uc011mwi.1_5'UTR|FGF13_uc004far.2_5'UTR|FGF13_uc011mwj.1_Frame_Shift_Del_p.P23fs|FGF13_uc011mwk.1_Intron	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 3	Error:Variant_position_missing_in_Q92913_after_alignment					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CTGTGTGCCAGGGGGGGCGTC	0.433												
KLHL21	9903	broad.mit.edu	37	1	6653565	6653567	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:6653564_6653566CAGA>C	uc001aoa.3	-	3	1705_1707	c.1653_1655TCTG>G	c.(1651-1656)ttctgg>ttGg	p.551_552FW>L	KLHL21_uc001anz.1_3'UTR|KLHL21_uc009vme.3_In_Frame_Del_p.184_185FW>L	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	Homo sapiens kelch-like 21 (Drosophila) (KLHL21), mRNA.	551					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	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)		ACTGCCATGCCAGAAGGTGGGTT	0.611												
NMNAT1	64802	broad.mit.edu	37	1	10042385	10042386	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:10042384_10042385T>TG	uc001aqp.3	+	4	609_610	c.465_466T>TG	c.(463-468)tgtgggfs	p.C155fs		NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 1 (NMNAT1), mRNA.	155					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGCTGTGTGGGGCAGATTT	0.485												
PTPRU	10076	broad.mit.edu	37	1	29585189	29585189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:29585188_29585188GC>G	uc001bru.3	+	2	506	c.377_377GC>G	c.(376-378)ggcfs	p.G126fs	PTPRU_uc009vtq.3_Frame_Shift_Del_p.G126fs|PTPRU_uc009vtr.3_Frame_Shift_Del_p.G126fs|PTPRU_uc001brw.3_Frame_Shift_Del_p.G126fs	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	126	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTTAATGGGGGCCCCCTGGGC	0.607												
DNAJC6	9829	broad.mit.edu	37	1	65851489	65851489	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:65851488_65851488AC>A	uc001dce.1	+	6	1095	c.894_894AC>A	c.(892-894)atafs	p.I298fs	DNAJC6_uc001dcc.1_Frame_Shift_Del_p.I272fs|DNAJC6_uc001dcd.1_Frame_Shift_Del_p.I241fs|DNAJC6_uc010opc.1_Frame_Shift_Del_p.I228fs	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	241	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCAGTCCAATACCCTTTTTCA	0.438												
PYGO2	90780	broad.mit.edu	37	1	154932028	154932028	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:154932027_154932027TG>T	uc001fft.3	-	2	655	c.449_449CA>A	c.(448-450)cagfs	p.Q150fs		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	150	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	p.Q150fs*27(4)		endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGGACCCTGGGGGGGCAT	0.622												
TMEM79	84283	broad.mit.edu	37	1	156255498	156255499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	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												
FMOD	2331	broad.mit.edu	37	1	203316600	203316601	+	Frame_Shift_Ins	INS	-	-	C	rs139730140	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:203316599_203316600G>GC	uc001gzr.3	-	1	935_936	c.799_800C>GC	c.(799-801)gcgfs	p.A267fs		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	267					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGCTTGGGCGCCCCCCGGAAG	0.579												
CAPN2	824	broad.mit.edu	37	1	223934727	223934727	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:223934726_223934726AG>A	uc001hob.4	+	4	812	c.588_588AG>A	c.(586-588)tcafs	p.S196fs	CAPN2_uc010puy.2_Frame_Shift_Del_p.S118fs	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	196	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		AAGCGCTATCAGGGGGTGCCA	0.532												
RBM34	23029	broad.mit.edu	37	1	235323947	235323948	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:235323946_235323947G>GT	uc001hwn.3	-	2	475_476	c.244_245C>AC	c.(244-246)acgfs	p.T82fs	RBM34_uc001hwo.3_Intron|RBM34_uc001hwp.3_Non-coding_Transcript|RBM34_uc010pxp.1_Frame_Shift_Ins_p.T82fs	NM_015014	NP_055829	P42696	RBM34_HUMAN	Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA.	82						nucleolus	RNA binding|nucleotide binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ATTCCGTTTCGTTTTTTTGATG	0.371												
GREB1	9687	broad.mit.edu	37	2	11706699	11706699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:11706698_11706698TC>T	uc002rbk.1	+	3	670	c.370_370TC>T	c.(370-372)tccfs	p.S124fs	GREB1_uc002rbl.3_Frame_Shift_Del_p.S124fs|GREB1_uc002rbm.3_Frame_Shift_Del_p.S14fs|GREB1_uc002rbn.1_Frame_Shift_Del_p.S124fs	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	124						integral to membrane		p.K123N(1)|p.S124Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGGGGTCAAGTCCCCCAGCCT	0.582												
ATP6V1B1	525	broad.mit.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NPHP1	4867	broad.mit.edu	37	2	110926098	110926099	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:110926097_110926098G>GT	uc002tfn.4	-	5	649_650	c.555_556C>AC	c.(553-558)aaacctfs	p.K185fs	NPHP1_uc002tfm.4_Frame_Shift_Ins_p.K185fs|NPHP1_uc002tfl.4_Frame_Shift_Ins_p.K185fs|NPHP1_uc002tfo.4_Frame_Shift_Ins_p.K123fs|NPHP1_uc010ywx.2_Frame_Shift_Ins_p.K185fs|NPHP1_uc010fjv.1_Frame_Shift_Ins_p.K185fs	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	185	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	p.P186H(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CAACCATCAGGTTTTTTTTCAA	0.342												
SMPD4	55627	broad.mit.edu	37	2	130921967	130921967	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:130921966_130921966AT>A	uc002tqq.2	-	9	2111	c.962_962AT>T	c.(961-963)atgfs	p.M321fs	SMPD4_uc002tqp.2_Frame_Shift_Del_p.M14fs|SMPD4_uc010yzy.2_Frame_Shift_Del_p.M99fs|SMPD4_uc010yzz.2_Frame_Shift_Del_p.M14fs|SMPD4_uc002tqs.2_Frame_Shift_Del_p.M189fs|SMPD4_uc002tqr.2_Frame_Shift_Del_p.M321fs|SMPD4_uc010zaa.2_Frame_Shift_Del_p.M208fs|SMPD4_uc010zab.2_Frame_Shift_Del_p.M248fs|SMPD4_uc002tqt.2_Frame_Shift_Del_p.M199fs|SMPD4_uc010zac.2_Frame_Shift_Del_p.C35fs|SMPD4_uc010zad.2_Frame_Shift_Del_p.C35fs	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	282					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AGGGGACTGCATTTTTTGATA	0.438												
LRP1B	53353	broad.mit.edu	37	2	141032034	141032035	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:141032033_141032034G>GC	uc002tvj.1	-	84	14073_14074	c.13101_13102C>GC	c.(13099-13104)gggcacfs	p.G4367fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4367					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4367R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		ATAATGCAGTGCCCCCCATGGC	0.421										TSP Lung(27;0.18)		
GALNT5	11227	broad.mit.edu	37	2	158152993	158152994	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:158152992_158152993C>CA	uc002tzg.3	+	4	2219_2220	c.1964_1965C>CA	c.(1963-1965)gcafs	p.A655fs	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	655					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.N657fs*4(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GATGTCATTGCAAAAAACAGAA	0.337												
DPP4	1803	broad.mit.edu	37	2	162891780	162891781	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:162891779_162891780T>TA	uc002ubz.3	-	8	1229_1230	c.668_669A>TA	c.(667-669)ttafs	p.L223fs	DPP4_uc010fpb.3_5'UTR	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	223					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GGGCATATGCTAAAAAAGTGCC	0.421												
ITGAV	3685	broad.mit.edu	37	2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:187521084_187521084AG>A	uc002upq.3	+	16	1951	c.1675_1675AG>A	c.(1675-1677)aggfs	p.R559fs	ITGAV_uc010frs.3_Frame_Shift_Del_p.R523fs|ITGAV_uc010zfv.2_Frame_Shift_Del_p.R513fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	559					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACT	0.428												
CRYGD	1421	broad.mit.edu	37	2	209025577	209025578	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:209025576_209025577A>AC	uc002vcq.4	-	2	493_494	c.476_477T>GT	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TGGCATCTGCACCCCCCCAGTC	0.530												
ERBB4	2066	broad.mit.edu	37	2	212248737	212248737	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:212248736_212248736AT>A	uc002veg.1	-	27	3629	c.3531_3531AT>T	c.(3529-3531)aatfs	p.N1177fs	ERBB4_uc002veh.1_Frame_Shift_Del_p.N1161fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.N1167fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.N1151fs	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1177					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAAGGTCTCCATTTTTTCTCC	0.403										TSP Lung(8;0.080)		
SPEG	10290	broad.mit.edu	37	2	220348798	220348798	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:220348797_220348797GC>G	uc010fwg.3	+	29	6612	c.6612_6612GC>G	c.(6610-6612)cagfs	p.Q2204fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2204	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGCTCCGCAGCCCCCCGCAC	0.682												
DNAJB3	414061	broad.mit.edu	37	2	234652188	234652189	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:234652187_234652188A>AC	uc002vuz.3	-	0	474_475	c.375_376T>GT	c.(373-378)gggtcafs	p.G125fs	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	125					protein folding		heat shock protein binding|unfolded protein binding										AGTTCCTCTGACCCCCCCAAAA	0.540												
CNTN6	27255	broad.mit.edu	37	3	1414122	1414122	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:1414121_1414121TA>T	uc003boz.3	+	12	1898	c.1631_1631TA>T	c.(1630-1632)ttafs	p.L544fs	CNTN6_uc011asj.2_Frame_Shift_Del_p.L472fs|CNTN6_uc003bpa.3_Frame_Shift_Del_p.L544fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	544	Ig-like C2-type 6.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCATAGACTTAAAAAAAGGA	0.378												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:114058002_114058003AGG>A	uc003ebi.3	-	4	2255_2256	c.2075_2076CCT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCCC	0.634												
GOLGB1	2804	broad.mit.edu	37	3	121409851	121409852	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:121409850_121409851ATC>A	uc010hrc.3	-	13	8486_8487	c.8360_8361GAT>T	c.(8359-8361)gatfs	p.D2787fs	GOLGB1_uc003eei.4_Frame_Shift_Del_p.D2782fs|GOLGB1_uc003eej.4_Frame_Shift_Del_p.D2748fs|GOLGB1_uc021xcy.1_Frame_Shift_Del_p.D2707fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2782					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAAGAAGAGCATCTCTCTCTCT	0.426												
MED12L	116931	broad.mit.edu	37	3	151078324	151078324	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:151078323_151078323AT>A	uc003eyp.3	+	18	2911	c.2782_2782AT>A	c.(2782-2784)attfs	p.I928fs	MED12L_uc011bnz.2_Frame_Shift_Del_p.I788fs|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Frame_Shift_Del_p.I92fs	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	928					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGAAAGATGCATTTTAGCCTA	0.408												
IGSF10	285313	broad.mit.edu	37	3	151171553	151171553	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:151171552_151171552AT>A	uc011bod.2	-	2	335	c.335_335AT>T	c.(334-336)atgfs	p.M112fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	112					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTATAGCTCATTTTTAAGAC	0.308												
PIGG	54872	broad.mit.edu	37	4	515055	515056	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:515054_515055G>GT	uc003gak.4	+	6	1460_1461	c.1324_1325G>GT	c.(1324-1326)gttfs	p.V442fs	PIGG_uc003gaj.4_Intron|PIGG_uc011bux.2_Intron|PIGG_uc010ibf.3_Frame_Shift_Ins_p.V309fs|PIGG_uc003gal.4_Frame_Shift_Ins_p.V353fs|PIGG_uc011buw.2_Intron|PIGG_uc003gam.3_Intron|PIGG_uc003gan.3_Frame_Shift_Ins_p.V353fs	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	442					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GACTGTCGTGGTTTTGGAGGTA	0.441												
ADD1	118	broad.mit.edu	37	4	2930188	2930189	+	In_Frame_Ins	INS	-	-	AAG			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:2930187_2930188A>AAAG	uc003gfq.3	+	14	2432_2433	c.2244_2245A>AAAG	c.(2242-2247)aaaaag>aaAAAGag	p.748_749KK>KK	ADD1_uc003gfo.3_3'UTR|ADD1_uc003gfp.3_3'UTR|ADD1_uc003gfr.3_In_Frame_Ins_p.717_718KK>KK|ADD1_uc003gfs.3_3'UTR	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	717					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCCGTCCAAAAAGAAGAAGAA	0.619												
STX18	53407	broad.mit.edu	37	4	4436580	4436581	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:4436579_4436580A>AT	uc003gic.3	-	6	703_704	c.619_620T>AT	c.(619-621)attfs	p.I207fs		NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	Homo sapiens syntaxin 18 (STX18), mRNA.	207					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		TTCAGCCAAAATTTTTTCTGTT	0.361												
DHX15	1665	broad.mit.edu	37	4	24550502	24550503	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:24550501_24550502G>GT	uc003gqx.3	-	5	1392_1393	c.1224_1225C>AC	c.(1222-1227)aaacagfs	p.K408fs		NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	408	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GCTCCATTCTGTTTTTTGGGAG	0.351												
GNPDA2	132789	broad.mit.edu	37	4	44719161	44719161	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:44719160_44719160CT>C	uc003gwy.3	-	3	536	c.379_379AG>G	c.(379-381)gaafs	p.E127fs	GNPDA2_uc010iga.3_Frame_Shift_Del_p.E93fs|GNPDA2_uc011bzb.2_Frame_Shift_Del_p.E57fs|GNPDA2_uc003gwz.1_Frame_Shift_Del_p.E127fs	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 2 (GNPDA2), mRNA.	127					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	p.K126*(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						CCTCCAGCTTCTTTTATTTTG	0.299												
ATP10D	57205	broad.mit.edu	37	4	47559698	47559699	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:47559697_47559698T>TG	uc003gxk.1	+	11	2005_2006	c.1841_1842T>TG	c.(1840-1842)ctgfs	p.L614fs	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	614					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACCCTTCACTGGGGGGGTTGC	0.401												
SLC4A4	8671	broad.mit.edu	37	4	72319255	72319256	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:72319254_72319255A>AT	uc010iic.3	+	11	1482_1483	c.1365_1366A>AT	c.(1363-1368)ccatttfs	p.P455fs	SLC4A4_uc003hfy.3_Frame_Shift_Ins_p.P455fs|SLC4A4_uc010iib.3_Frame_Shift_Ins_p.P455fs|SLC4A4_uc003hfz.3_Frame_Shift_Ins_p.P455fs|SLC4A4_uc003hgc.4_Frame_Shift_Ins_p.P411fs|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Frame_Shift_Ins_p.P333fs|SLC4A4_uc003hgb.3_Frame_Shift_Ins_p.P411fs	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	455						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.G456G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGAAAGCGCCATTTTTTGCCAG	0.351												
FGF5	2250	broad.mit.edu	37	4	81196142	81196142	+	Frame_Shift_Del	DEL	A	A	-	rs35667286		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:81196141_81196141CA>C	uc003hmd.3	+	1	671	c.434_434CA>C	c.(433-435)tcafs	p.S145fs	FGF5_uc003hme.3_Intron	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	145					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TTAGCGATGTCAAAAAAAGGA	0.328												
HHIP	64399	broad.mit.edu	37	4	145628239	145628239	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:145628238_145628238GA>G	uc003ijs.2	+	6	1664	c.984_splice	c.e6-1	p.R328_splice		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	328						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CCACAATGTAGAAAAAATCCA	0.388												
CLCN3	1182	broad.mit.edu	37	4	170618379	170618380	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:170618378_170618379A>AT	uc003ish.3	+	8	1615_1616	c.1056_1057A>AT	c.(1054-1059)tcatttfs	p.S352fs	CLCN3_uc003isi.3_Frame_Shift_Ins_p.S352fs|CLCN3_uc011cka.2_Frame_Shift_Ins_p.S325fs|CLCN3_uc011cjz.2_Frame_Shift_Ins_p.S335fs|CLCN3_uc003isj.2_Frame_Shift_Ins_p.S325fs	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	352					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TATGGAGATCATTTTTTGCTGC	0.317												
PRKAA1	5562	broad.mit.edu	37	5	40775544	40775546	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:40775543_40775545TCTC>T	uc003jmb.3	-	2	336_338	c.330_332GAGA>A	c.(328-333)ggagag>ggAg	p.E111del	PRKAA1_uc003jmc.3_In_Frame_Del_p.E111del	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1), transcript variant 2, mRNA.	111	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	ATCAAATAGCTCTCCTCCTGAGA	0.355												
FBN2	2201	broad.mit.edu	37	5	127610311	127610312	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:127610310_127610311A>AC	uc003kuu.3	-	59	8098_8099	c.7659_7660T>GT	c.(7657-7662)gggtttfs	p.G2553fs		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2553	EGF-like 43; calcium-binding.				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			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		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)		TTACAGGTAAACCCCCCCAGGG	0.421												
CDKL3	51265	broad.mit.edu	37	5	133536190	133536190	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:133536189_133536189TA>T	uc003kze.3	-	5	975	c.577_splice	c.e5-1	p.G193_splice		NM_002715	NP_002706	Q8IVW4	CDKL3_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, alpha isozyme (PPP2CA), mRNA.	0	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATTGGACCCTAAAAAATAAC	0.413												
CDC25C	995	broad.mit.edu	37	5	137627690	137627690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:137627689_137627689CT>C	uc003lcs.1	-	7	1166	c.966_966AG>G	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Del_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Del_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGAAAAATACTTTTTTTTAA	0.383												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
SLIT3	6586	broad.mit.edu	37	5	168175427	168175431	+	Frame_Shift_Del	DEL	CTCTC	CTCTC	-	rs34681650		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:168175426_168175430ACTCTC>A	uc010jjg.3	-	19	2567_2571	c.2147_2151GAGAGT>T	c.(2146-2151)gagagtfs	p.E716fs	SLIT3_uc003mab.3_Frame_Shift_Del_p.E716fs	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	716	LRRNT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGGCAGCTACTCTCCTCGTTGCC	0.639												
JARID2	3720	broad.mit.edu	37	6	15513220	15513221	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:15513219_15513220C>CA	uc003nbj.3	+	14	3453_3454	c.3209_3210C>CA	c.(3208-3210)gcafs	p.A1070fs	JARID2_uc011div.2_Frame_Shift_Ins_p.A898fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1070					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.E1069K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAAGCAGAAGCAAAAAAAGAAA	0.520												
HIST1H1C	3006	broad.mit.edu	37	6	26056209	26056211	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:26056208_26056210CTCT>C	uc003nfw.3	-	0	490_492	c.447_449AGAG>G	c.(445-450)aagagc>aaGc	p.S150del		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	150					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTTCTTAGCGCTCTTCTTCGGAG	0.571												
HFE	3077	broad.mit.edu	37	6	26092989	26092990	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:26092988_26092989A>AC	uc003nfx.1	+	3	852_853	c.692_693A>AC	c.(691-693)tacfs	p.Y231fs	HFE_uc003nfy.1_Frame_Shift_Ins_p.Y208fs|HFE_uc010jqe.1_Frame_Shift_Ins_p.Y228fs|HFE_uc003nfz.1_Frame_Shift_Ins_p.Y143fs|HFE_uc003ngd.1_Frame_Shift_Ins_p.Y129fs|HFE_uc003nga.1_Frame_Shift_Ins_p.Y217fs|HFE_uc003ngb.1_Frame_Shift_Ins_p.Y125fs|HFE_uc003ngc.1_Frame_Shift_Ins_p.Y139fs|HFE_uc003nge.1_Frame_Shift_Ins_p.Y51fs|HFE_uc003ngf.1_Intron	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	231	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGAACTACTACCCCCAGAACA	0.515									Hemochromatosis			
HLA-F	3134	broad.mit.edu	37	6	29694803	29694804	+	Frame_Shift_Ins	INS	-	-	T	rs17875385		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:29694802_29694803G>GT	uc003nno.4	+	6	1303_1304	c.1179_1180G>GT	c.(1177-1182)ttgtttfs	p.L393fs	HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535												
BRD2	6046	broad.mit.edu	37	6	32944465	32944468	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:32944464_32944467TAGAG>T	uc010juh.3	+	5	2255_2258	c.951_954TAGAG>T	c.(949-954)cgtagafs	p.R317fs	BRD2_uc003ocn.4_Frame_Shift_Del_p.R317fs|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Frame_Shift_Del_p.R197fs|BRD2_uc003ocq.4_Frame_Shift_Del_p.R317fs|BRD2_uc021ywf.1_Frame_Shift_Del_p.R270fs	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	317					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCCCTATGCGTAGAGAGAGTGGTC	0.539												
PHF1	5252	broad.mit.edu	37	6	33383808	33383830	+	Frame_Shift_Del	DEL	CTCGGAGAGTACGGCCTGATGGC	CTCGGAGAGTACGGCCTGATGGC	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:33383807_33383829GCTCGGAGAGTACGGCCTGATGGC>G	uc003oeh.3	+	14	1872_1894	c.1636_1658GCTCGGAGAGTACGGCCTGATGGC>G	c.(1636-1659)gctcggagagtacggcctgatggcfs	p.A546fs	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_3'UTR|PHF1_uc010jux.3_Frame_Shift_Del_p.A346fs	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	546					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCGGGTCCTTGCTCGGAGAGTACGGCCTGATGGCTCTGTGCAG	0.623												
UHRF1BP1	54887	broad.mit.edu	37	6	34826124	34826125	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:34826123_34826124C>CT	uc003oju.4	+	13	2224_2225	c.1990_1991C>CT	c.(1990-1992)cttfs	p.L664fs	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	664								p.L666fs*15(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCTGCACATGCTTTTTTTGCAT	0.505												
CDC5L	988	broad.mit.edu	37	6	44374081	44374082	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:44374080_44374081G>GA	uc003oxl.3	+	6	1089_1090	c.779_780G>GA	c.(778-780)agafs	p.R260fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	260	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAGAGATAGAAAAAAAGACA	0.297												
PHF3	23469	broad.mit.edu	37	6	64395813	64395814	+	Splice_Site	DEL	GT	GT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:64395812_64395813GGT>G	uc003pep.1	+	3	2214	c.2189_splice	c.e3+1	p.R730_splice	PHF3_uc010kaf.1_Splice_Site_p.R730_splice|PHF3_uc003pem.2_Splice_Site_p.R683_splice|PHF3_uc010kag.1_Splice_Site_p.R642_splice|PHF3_uc010kah.1_Splice_Site_p.R544_splice|PHF3_uc003pen.2_Splice_Site_p.R642_splice|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Frame_Shift_Del_p.R730fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	730					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CATGGCAACAGGTGTGTGTGTA	0.371												
PHF3	23469	broad.mit.edu	37	6	64423005	64423006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:64423004_64423005T>TC	uc003pep.1	+	14	5545_5546	c.5520_5521T>TC	c.(5518-5523)cttcccfs	p.L1840fs	PHF3_uc003pen.2_Frame_Shift_Ins_p.L1752fs|PHF3_uc011dxs.1_Frame_Shift_Ins_p.L1109fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1840	Pro-rich.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTCCATTACTTCCCCCTCCAGG	0.515												
RIMS1	22999	broad.mit.edu	37	6	72596775	72596775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:72596774_72596774TC>T	uc003pga.3	+	0	125	c.48_48TC>T	c.(46-48)cctfs	p.P16fs		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	16					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCACGGTGCCTCCCCCCATGC	0.637												
BCKDHB	594	broad.mit.edu	37	6	80878721	80878721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:80878720_80878720AT>A	uc003pjd.2	+	4	673	c.606_606AT>A	c.(604-606)gcafs	p.A202fs	BCKDHB_uc003pje.2_Frame_Shift_Del_p.A202fs	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	202					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GTCCTGAAGCATTTTTTGCCC	0.398												
C6orf170	221322	broad.mit.edu	37	6	121481252	121481252	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:121481251_121481251TA>T	uc003pyo.1	-	24	2748	c.2680_splice	c.e24-1	p.S894_splice	C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc010kej.1_Splice_Site|C6orf170_uc003pyp.1_Splice_Site_p.S454_splice	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	894					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		ATTATCACTCTAAAAAAGAAG	0.318												
PHACTR2	9749	broad.mit.edu	37	6	144086414	144086414	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:144086413_144086413CA>C	uc010khi.3	+	5	909	c.710_710CA>C	c.(709-711)tcafs	p.S237fs	PHACTR2_uc003qjq.4_Frame_Shift_Del_p.S226fs|PHACTR2_uc010khh.3_Frame_Shift_Del_p.S146fs|PHACTR2_uc003qjr.4_Frame_Shift_Del_p.S157fs	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	226							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTCTCATTCAAAAAAAACA	0.398												
SYNE1	23345	broad.mit.edu	37	6	152539540	152539541	+	Splice_Site	INS	-	-	T	rs35128811		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:152539539_152539540C>CT	uc021zhb.1	-	119	22268	c.22045_splice	c.e119-1	p.A7349_splice	SYNE1_uc003qos.4_Splice_Site_p.A1873_splice|SYNE1_uc003qot.4_Splice_Site_p.A7278_splice|SYNE1_uc003qou.4_Splice_Site_p.A7349_splice|SYNE1_uc003qor.4_Splice_Site_p.A249_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7349					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAACTCCAGCCTTTTTTTCCAC	0.347										HNSCC(10;0.0054)		
ARPP21	10777	broad.mit.edu	37	7	38313227	38313227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:38313226_38313226AT>A	uc003tge.1	-	3	766	c.389_389AT>T	c.(388-390)atcfs	p.I130fs	ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_Intron|ARPP21_uc010kxi.1_Intron|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAATACCTTGATTTTTTTGCC	0.393												
CROT	54677	broad.mit.edu	37	7	86978480	86978480	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:86978479_86978479TA>T	uc003uiu.3	+	2	340	c.95_95TA>T	c.(94-96)ttafs	p.L32fs	CROT_uc003uis.3_Frame_Shift_Del_p.L32fs|CROT_uc003uit.3_Frame_Shift_Del_p.L32fs	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	32					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAAGAATCATTAAAAAAATAC	0.318												
CUX1	1523	broad.mit.edu	37	7	101839974	101839975	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:101839973_101839974G>GC	uc003uys.4	+	14	1442_1443	c.1315_1316G>GC	c.(1315-1317)gccfs	p.A439fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Ins_p.A428fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	428					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G439V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATCTTTGCCGGCCCCCCCTCCT	0.564												
NOBOX	135935	broad.mit.edu	37	7	144098496	144098497	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:144098495_144098496C>CG	uc022aoj.1	-	3	487_488	c.487_488G>CG	c.(487-489)cgcfs	p.R163fs		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	163					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGCCCTGGAGCGGGGGGGCGGG	0.629												
RB1CC1	9821	broad.mit.edu	37	8	53573205	53573206	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:53573204_53573205T>TA	uc003xre.4	-	11	2198_2199	c.1640_1641A>TA	c.(1639-1641)ttafs	p.L547fs	RB1CC1_uc003xrf.4_Frame_Shift_Ins_p.L547fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	547					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GACGATTTCTTAAAAAAGACTT	0.302												
ZFHX4	79776	broad.mit.edu	37	8	77767090	77767090	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:77767089_77767089GA>G	uc003yau.2	+	9	8319	c.7932_7932GA>G	c.(7930-7932)ctgfs	p.L2644fs	ZFHX4_uc003yaw.1_Frame_Shift_Del_p.L2599fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2643R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGTCGGGCTGAAAAAAAGGG	0.512										HNSCC(33;0.089)		
TSPYL5	85453	broad.mit.edu	37	8	98289664	98289664	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:98289663_98289663CG>C	uc003yhy.3	-	0	514	c.410_410CG>G	c.(409-411)cgcfs	p.R137fs		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	137					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GTTTCCAACGCGGGGGGCATT	0.672												
SNX31	169166	broad.mit.edu	37	8	101586120	101586120	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:101586119_101586119CA>C	uc003yjr.3	-	13	1448	c.1297_1297TG>G	c.(1297-1299)gggfs	p.G433fs	SNX31_uc011lha.2_Frame_Shift_Del_p.G228fs|SNX31_uc011lhb.2_Frame_Shift_Del_p.G334fs	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	433					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTTATGTTCCCAAAAACGCAG	0.368												
FLJ43860	389690	broad.mit.edu	37	8	142506534	142506534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:142506533_142506533CG>C	uc003ywi.2	-	1	230	c.149_149CG>G	c.(148-150)cgcfs	p.R50fs	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	50							binding					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)			TCTGTCCCTGCGGGCAGAGTC	0.577												
DNAJA1	3301	broad.mit.edu	37	9	33034284	33034286	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:33034283_33034285ATAT>A	uc003zsd.1	+	5	896_898	c.713_715ATAT>A	c.(712-717)gatatt>gAtt	p.I241del	DNAJA1_uc011lnt.1_In_Frame_Del_p.I84del|DNAJA1_uc003zse.1_In_Frame_Del_p.I241del	NM_001539	NP_001530	P31689	DNJA1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 1 (DNAJA1), mRNA.	241					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			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		GAGCCAGGCGATATTATCATTGT	0.369												
C9orf131	138724	broad.mit.edu	37	9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	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												
NEK6	10783	broad.mit.edu	37	9	127110068	127110068	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:127110067_127110067AC>A	uc004boh.3	+	9	1160	c.899_899AC>A	c.(898-900)tacfs	p.Y300fs	NEK6_uc004bof.3_Frame_Shift_Del_p.Y284fs|NEK6_uc004bog.3_Frame_Shift_Del_p.Y266fs|NEK6_uc010mwk.3_Frame_Shift_Del_p.Y266fs|NEK6_uc022bnf.1_Frame_Shift_Del_p.Y300fs|NEK6_uc004boi.3_Frame_Shift_Del_p.Y266fs|NEK6_uc022bng.1_Frame_Shift_Del_p.Y291fs	NM_001145001	NP_055212	Q9HC98	NEK6_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 6 (NEK6), transcript variant 1, mRNA.	266	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity	p.Y259C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CAGTGTGACTACCCCCCACTC	0.617												
PFKP	5214	broad.mit.edu	37	10	3172106	3172106	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:3172105_3172105TG>T	uc001igp.3	+	16	1854	c.1778_1778TG>T	c.(1777-1779)atgfs	p.M593fs	PFKP_uc001igq.3_Frame_Shift_Del_p.M585fs|PFKP_uc009xhr.3_Frame_Shift_Del_p.M555fs|PFKP_uc009xhs.1_Frame_Shift_Del_p.M377fs|PFKP_uc009xht.3_Frame_Shift_Del_p.M331fs|PFKP_uc009xhu.3_Frame_Shift_Del_p.M99fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	593					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGGCCAACATGGGGGGGCTC	0.637												
CCDC3	83643	broad.mit.edu	37	10	12940431	12940432	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:12940430_12940431A>AG	uc001ilq.1	-	2	932_933	c.798_799T>CT	c.(796-801)ccctacfs	p.P266fs	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	266						endoplasmic reticulum|extracellular region		p.Y267C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CCCCGCAGGTAGGGGGGGCGCA	0.644												
FRMD4A	55691	broad.mit.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532												
GPR158	57512	broad.mit.edu	37	10	25886928	25886928	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:25886927_25886927AC>A	uc001isj.3	+	10	2432	c.2372_2372AC>A	c.(2371-2373)aacfs	p.N791fs	GPR158_uc001isk.3_Frame_Shift_Del_p.N166fs	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	791						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATCAGGAAGAACCCCCCAGAG	0.547												
PRKG1	5592	broad.mit.edu	37	10	54048574	54048574	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:54048573_54048573CA>C	uc001jjm.3	+	14	1980	c.1752_1752CA>C	c.(1750-1752)gccfs	p.A584fs	PRKG1_uc001jjo.3_Frame_Shift_Del_p.A599fs|PRKG1_uc009xow.2_Frame_Shift_Del_p.A302fs|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	584	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGAAGATTGCCAAAAATGCTG	0.318												
CTNNA3	29119	broad.mit.edu	37	10	67680208	67680209	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:67680207_67680208G>GTT	uc009xpn.1	-	17	2691_2692	c.2568_2569C>AAC	c.(2566-2571)aaacccfs	p.K856fs	CTNNA3_uc001jmw.2_Frame_Shift_Ins_p.K856fs	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	856					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.P857fs*4(3)|p.K855E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTAATCAAGGGTTTTTTTGCAG	0.465												
TET1	80312	broad.mit.edu	37	10	70450890	70450891	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:70450889_70450890T>TC	uc001jok.4	+	11	6234_6235	c.5729_5730T>TC	c.(5728-5730)ctcfs	p.L1910fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1910					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTGGCTCCTCTCCCCACCCTGT	0.584												
SMC3	9126	broad.mit.edu	37	10	112361549	112361551	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:112361548_112361550TGAA>T	uc001kze.3	+	23	2924_2926	c.2798_2800TGAA>T	c.(2797-2802)ttgaag>tTag	p.K936del		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	936					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGCATGCTATTGAAGAAGAAAGA	0.384												
KRTAP5-1	387264	broad.mit.edu	37	11	1606326	1606326	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:1606325_1606325AC>A	uc001ltu.1	-	0	189	c.155_155GT>T	c.(154-156)gtgfs	p.V52fs	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	52	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACGGCAGCACACGGGCTTGCA	0.682												
RIC3	79608	broad.mit.edu	37	11	8161539	8161540	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:8161538_8161539T>TA	uc010rbm.1	-	1	380_381	c.326_327A>TA	c.(325-327)ttafs	p.L109fs	RIC3_uc001mgb.2_5'Flank|RIC3_uc010rbl.1_Frame_Shift_Ins_p.L59fs|RIC3_uc001mgd.2_Frame_Shift_Ins_p.L109fs|RIC3_uc001mgc.2_Frame_Shift_Ins_p.L109fs|RIC3_uc009yfm.2_Frame_Shift_Ins_p.L109fs|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.4_Frame_Shift_Ins_p.L109fs	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	109						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ACAGTATATATAAAAAAATCCC	0.351												
PSMC3	5702	broad.mit.edu	37	11	47440673	47440674	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:47440672_47440673CCA>C	uc001nfh.2	-	10	1397_1398	c.1203_1204TGG>G	c.(1201-1206)gtggagfs	p.V401fs		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	401					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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|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|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTCACCGCCTCCACACACACAG	0.624												
OR5M3	219482	broad.mit.edu	37	11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:56237708_56237708GT>G	uc010rjk.2	-	0	307	c.266_266AC>C	c.(265-267)acafs	p.T89fs	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATAAGTAATTGTTTTTTTATC	0.363												
VWCE	220001	broad.mit.edu	37	11	61044094	61044094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:61044093_61044093TG>T	uc001nra.3	-	10	1746	c.1467_1467CA>A	c.(1465-1467)ccafs	p.P489fs	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	489	VWFC 2.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AATCCGTCTGTGGGGGGGTCT	0.507												
RASGRP2	10235	broad.mit.edu	37	11	64507638	64507638	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:64507637_64507637TG>T	uc009ypu.3	-	6	599	c.372_splice	c.e6-1	p.V124_splice	RASGRP2_uc001oat.3_Frame_Shift_Del_p.S26fs|RASGRP2_uc001oau.3_Splice_Site|RASGRP2_uc009ypv.3_Splice_Site_p.V124_splice|RASGRP2_uc009ypw.3_Splice_Site_p.V124_splice	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	124	N-terminal Ras-GEF.				Ras protein signal transduction|platelet activation|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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGTAGGGCTGGGGGGGCAG	0.572												
OR2AT4	341152	broad.mit.edu	37	11	74800161	74800162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:74800160_74800161T>TG	uc010rro.2	-	0	598_599	c.598_599A>CA	c.(598-600)cagfs	p.Q200fs		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						CATGAGGGTCTGGGGGGTGGTG	0.569												
NPAT	4863	broad.mit.edu	37	11	108044069	108044070	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:108044068_108044069C>CT	uc001pjz.4	-	12	1744_1745	c.1642_1643G>AG	c.(1642-1644)agtfs	p.S548fs	NPAT_uc001pka.3_Frame_Shift_Ins_p.S343fs	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	548					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACAAAATTGACTTTTTTTAGAT	0.302												
OR8D2	283160	broad.mit.edu	37	11	124189773	124189773	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:124189772_124189772CA>C	uc010sah.2	-	0	322	c.322_322TG>G	c.(322-324)gtafs	p.V108fs		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TCTGCAATTACAAAAATAAGG	0.418												
CCDC15	80071	broad.mit.edu	37	11	124857646	124857647	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:124857645_124857646A>AT	uc001qbm.4	+	7	1782_1783	c.1523_1524A>AT	c.(1522-1524)aatfs	p.N508fs		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	508						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAGGACCAGAATTTTTTGTCTA	0.386												
CD4	920	broad.mit.edu	37	12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562												
ATN1	1822	broad.mit.edu	37	12	7045028	7045029	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:7045027_7045028G>GC	uc001qrw.1	+	4	834_835	c.597_598G>GC	c.(595-600)gagcccfs	p.E199fs	ATN1_uc001qrx.1_Frame_Shift_Ins_p.E199fs|ATN1_uc001qry.1_Frame_Shift_Ins_p.E198fs	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	199					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCCCATGGAGCCCCCCACATC	0.609												
PRB3	5544	broad.mit.edu	37	12	11420683	11420683	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:11420682_11420682TG>T	uc001qzs.3	-	2	539	c.501_501CA>A	c.(499-501)ccafs	p.P167fs	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	167	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCCTCCTTGTGGGGGTGGTC	0.652												
PLEKHA5	54477	broad.mit.edu	37	12	19522710	19522711	+	Frame_Shift_Del	DEL	AT	AT	-	rs140734813		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:19522709_19522710CAT>C	uc001reb.3	+	24	3447_3448	c.3339_3340CAT>C	c.(3337-3342)ttcatgfs	p.F1113fs	PLEKHA5_uc001rea.3_Frame_Shift_Del_p.F1171fs|PLEKHA5_uc009zin.3_Frame_Shift_Del_p.F871fs|PLEKHA5_uc010sig.2_Frame_Shift_Del_p.F1095fs|PLEKHA5_uc021qvy.1_Frame_Shift_Del_p.F1102fs|PLEKHA5_uc009zio.3_Frame_Shift_Del_p.F379fs	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	1113							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATCACATTTCATGTGTGTGTA	0.406												
TMTC1	83857	broad.mit.edu	37	12	29689236	29689236	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:29689235_29689235CT>C	uc021qwi.1	-	10	1751	c.1692_1692AG>G	c.(1690-1692)aagfs	p.K564fs	TMTC1_uc001riz.3_Frame_Shift_Del_p.K213fs|TMTC1_uc001rja.3_Frame_Shift_Del_p.K300fs|TMTC1_uc001rjb.3_Frame_Shift_Del_p.K456fs|TMTC1_uc001rjc.1_Frame_Shift_Del_p.K518fs	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	564						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TAGCTTCTTCCTTTTTCTCCT	0.383												
PTPRB	5787	broad.mit.edu	37	12	70989964	70989964	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:70989963_70989963AC>A	uc001swb.4	-	2	500	c.470_470GT>T	c.(469-471)gttfs	p.V157fs	PTPRB_uc010sto.2_Frame_Shift_Del_p.V157fs|PTPRB_uc010stp.2_Frame_Shift_Del_p.V157fs|PTPRB_uc001swc.4_Frame_Shift_Del_p.V375fs|PTPRB_uc001swa.4_Frame_Shift_Del_p.V375fs|PTPRB_uc001swd.4_Frame_Shift_Del_p.V374fs|PTPRB_uc009zrr.2_Frame_Shift_Del_p.V254fs|PTPRB_uc001swe.3_Frame_Shift_Del_p.V375fs	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	157	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	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)			TTGAATTTGAACCCCCTGTAT	0.378												
LGR5	8549	broad.mit.edu	37	12	71977724	71977724	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:71977723_71977723AT>A	uc001swl.3	+	17	1981	c.1933_1933AT>A	c.(1933-1935)attfs	p.I645fs	LGR5_uc001swm.3_Frame_Shift_Del_p.I621fs|LGR5_uc021rar.1_Frame_Shift_Del_p.I573fs|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	645						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTTTTTGTCCATTTTTGCTTC	0.478												
UHRF1BP1L	23074	broad.mit.edu	37	12	100451840	100451840	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:100451839_100451839TG>T	uc001tgq.3	-	13	3445	c.3216_3216CA>A	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_uc001tgp.3_Frame_Shift_Del_p.P722fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCT	0.368												
OAS2	4939	broad.mit.edu	37	12	113435331	113435331	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:113435330_113435330GA>G	uc001tuj.3	+	3	773	c.633_633GA>G	c.(631-633)cagfs	p.Q211fs	OAS2_uc001tui.1_Frame_Shift_Del_p.Q211fs	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	211	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CACAGTGCCAGAAAAAAATCA	0.483												
RBM19	9904	broad.mit.edu	37	12	114358498	114358499	+	Splice_Site	DEL	GA	GA	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:114358497_114358498TGA>T	uc009zwi.2	-	19	2450	c.2306_splice	c.e19-1	p.G769_splice	RBM19_uc001tvn.4_Splice_Site_p.G769_splice|RBM19_uc001tvm.3_Splice_Site_p.G769_splice	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	769	RRM 5.				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)					GGAGCACTCCTGAGAGAGAGAG	0.545												
TMEM132D	121256	broad.mit.edu	37	12	130184705	130184706	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:130184704_130184705T>TG	uc009zyl.1	-	1	946_947	c.618_619A>CA	c.(616-621)cccacgfs	p.P206fs		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	206						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCAACCACCGTGGGGGGGCTGA	0.708												
STX2	2054	broad.mit.edu	37	12	131283100	131283100	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:131283099_131283099CT>C	uc001uio.3	-	8	924	c.757_757AG>G	c.(757-759)gctfs	p.A253fs	STX2_uc001uip.3_Frame_Shift_Del_p.A253fs|STX2_uc010tbj.2_Frame_Shift_Del_p.A253fs	NM_194356	NP_919337	P32856	STX2_HUMAN	Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA.	253	t-SNARE coiled-coil homology.				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	SNAP receptor activity|calcium-dependent protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TATTTGATAGCTTTTTTTGTT	0.338												
ACIN1	22985	broad.mit.edu	37	14	23530746	23530746	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:23530745_23530745TG>T	uc001wit.4	-	16	3688	c.3360_3360CA>A	c.(3358-3360)ccafs	p.P1120fs	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Frame_Shift_Del_p.P362fs|ACIN1_uc001wiq.4_Frame_Shift_Del_p.P362fs|ACIN1_uc001wir.4_Frame_Shift_Del_p.P393fs|ACIN1_uc001wis.4_Frame_Shift_Del_p.P801fs|ACIN1_uc010akg.3_Frame_Shift_Del_p.P1107fs|ACIN1_uc010tnj.2_Frame_Shift_Del_p.P1080fs	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1120	Pro-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGGGTGGGGGTGGGGGGTGCA	0.657												
ARID4A	5926	broad.mit.edu	37	14	58825911	58825912	+	Frame_Shift_Ins	INS	-	-	A	rs151278543		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:58825910_58825911G>GA	uc001xdp.3	+	17	2168_2169	c.1914_1915G>GA	c.(1912-1917)aagaaafs	p.K638fs	ARID4A_uc001xdo.3_Frame_Shift_Ins_p.K638fs|ARID4A_uc001xdq.3_Frame_Shift_Ins_p.K638fs|ARID4A_uc010apg.1_Frame_Shift_Ins_p.K316fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	638					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.K638K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTGGACCAAAGAAAAAACAGAA	0.292												
KCNH5	27133	broad.mit.edu	37	14	63174303	63174303	+	Frame_Shift_Del	DEL	G	G	-	rs35940222		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:63174302_63174302TG>T	uc001xfx.3	-	10	2942	c.2891_2891CA>A	c.(2890-2892)cagfs	p.Q964fs	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTAC	0.388												
DPF3	8110	broad.mit.edu	37	14	73159844	73159844	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:73159843_73159843TC>T	uc001xnc.2	-	6	696	c.683_683GA>A	c.(682-684)gatfs	p.D228fs	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Frame_Shift_Del_p.D228fs|DPF3_uc010ttq.1_Frame_Shift_Del_p.D238fs	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	228					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTGAGCTTCATCCCCCTCCTC	0.557												
GPR65	8477	broad.mit.edu	37	14	88477555	88477555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:88477554_88477554GT>G	uc021rxh.1	+	0	363	c.363_363GT>G	c.(361-363)aagfs	p.K121fs	GPR65_uc001xvv.3_Frame_Shift_Del_p.K121fs	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	121					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACCCTTTGAAGTTTTTTTTCC	0.423												
MOAP1	64112	broad.mit.edu	37	14	93650552	93650552	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:93650551_93650551TC>T	uc021saw.1	-	0	37	c.37_37GA>A	c.(37-39)atgfs	p.M13fs	MOAP1_uc001ybj.3_Frame_Shift_Del_p.M13fs|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.	13					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttcatgtccatccccctgcac	0.507												
OCA2	4948	broad.mit.edu	37	15	28200305	28200306	+	Splice_Site	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:28200304_28200305C>CT	uc001zbh.4	-	17	1952	c.1842_splice	c.e17+1	p.K614_splice	OCA2_uc010ayv.3_Splice_Site_p.K590_splice	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	614			K -> E (in OCA2).|K -> N (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		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)		AGCTGGGTACCTTTTTTTGGAG	0.441									Oculocutaneous Albinism			
CHRNA7	1139	broad.mit.edu	37	15	32404036	32404037	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:32404035_32404036A>AG	uc021sic.1	+	3	479_480	c.372_373A>AG	c.(370-375)ccagggfs	p.P124fs	CHRNA7_uc010bad.2_Non-coding_Transcript|CHRNA7_uc010bab.2_Frame_Shift_Ins_p.P95fs|CHRNA7_uc010bac.2_Frame_Shift_Ins_p.P95fs|CHRNA7_uc010bae.2_Intron|CHRNA7_uc001zft.3_Frame_Shift_Ins_p.P95fs|CHRNA7_uc010baf.3_Intron|CHRNA7_uc010bag.1_Non-coding_Transcript|CHRNA7_uc010bah.1_Non-coding_Transcript|CHRNA7_uc010bai.1_Non-coding_Transcript|CHRNA7_uc010baj.1_5'Flank|CHRNA7_uc010bak.3_5'Flank	NM_001190455	NP_683709	P36544	ACHA7_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA.	95					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CAGAATATCCAGGGGTGAAGAC	0.386												
B2M	567	broad.mit.edu	37	15	45007825	45007826	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:45007824_45007825A>AC	uc001zuc.3	+	1	331_332	c.271_272A>AC	c.(271-273)accfs	p.T91fs	B2M_uc010uek.1_Frame_Shift_Ins_p.T91fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	91	Ig-like C1-type.				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	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		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)		CACTGAATTCACCCCCACTGAA	0.416												
NOX5	79400	broad.mit.edu	37	15	69331226	69331226	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:69331225_69331225CT>C	uc002ars.2	+	8	1441	c.1400_1400CT>C	c.(1399-1401)cctfs	p.P467fs	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Frame_Shift_Del_p.P421fs|NOX5_uc002arp.2_Frame_Shift_Del_p.P449fs|NOX5_uc010bid.2_Frame_Shift_Del_p.P432fs|NOX5_uc010bie.2_Frame_Shift_Del_p.P267fs|NOX5_uc002arr.2_Frame_Shift_Del_p.P439fs|NOX5_uc010bif.2_Intron	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	467	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AAGCGGCCCCCTTTTTTTCAC	0.542												
GLYR1	84656	broad.mit.edu	37	16	4862229	4862230	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:4862228_4862229G>GC	uc002cxx.4	-	12	1177_1178	c.1140_1141C>GC	c.(1138-1143)gggcgcfs	p.G380fs	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Ins_p.G294fs|GLYR1_uc002cya.2_Frame_Shift_Ins_p.G374fs|GLYR1_uc010uxv.1_Frame_Shift_Ins_p.G299fs	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	380					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.R381fs*15(2)|p.G379R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574												
TNRC6A	27327	broad.mit.edu	37	16	24788376	24788381	+	In_Frame_Del	DEL	CAGCAG	CAGCAG	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:24788375_24788380ACAGCAG>A	uc002dmm.3	+	4	399_404	c.285_290ACAGCAG>A	c.(283-291)ccacagcag>ccAg	p.QQ102del	TNRC6A_uc010bxs.3_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	102	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATcagcagccacagcagcagcagcaa	0.597												
MYBBP1A	10514	broad.mit.edu	37	17	4448203	4448204	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:4448202_4448203ACT>A	uc002fxz.4	-	17	2386_2387	c.2324_2325AGT>T	c.(2323-2325)agtfs	p.S775fs	MYBBP1A_uc002fyb.4_Frame_Shift_Del_p.S775fs|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_5'Flank	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	775	Glu-rich.				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CCTCGTTCTCACTGTCCTCTCC	0.693												
SHMT1	6470	broad.mit.edu	37	17	18259317	18259317	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:18259316_18259316TA>T	uc002gta.3	-	2	172	c.-18_splice	c.e2-1		SHMT1_uc002gtb.3_Splice_Site|SHMT1_uc010vxt.2_Splice_Site|SHMT1_uc002gtd.1_Splice_Site|SHMT1_uc010vxu.1_Splice_Site	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGAAGCTGCCTAAAAAAATGG	0.408												
EVI2B	2124	broad.mit.edu	37	17	29632035	29632036	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:29632034_29632035G>GT	uc010csq.2	-	2	821_822	c.638_639C>AC	c.(637-639)aacfs	p.N213fs	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Frame_Shift_Ins_p.N198fs|EVI2B_uc021tuk.1_Frame_Shift_Ins_p.N198fs	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	198						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)|p.N199fs*3(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		AATTATAATTGTTTTTTTGTGG	0.351												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	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	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
GNA13	10672	broad.mit.edu	37	17	63010667	63010667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:63010666_63010666GA>G	uc002jfc.3	-	3	1052	c.843_843TC>C	c.(841-843)ttcfs	p.F281fs	GNA13_uc010wqh.2_Frame_Shift_Del_p.F186fs	NM_006572	NP_006563	Q14344	GNA13_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 13 (GNA13), mRNA.	281					Rho protein signal transduction|activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AGACATTGCTGAAAACCCGGT	0.408												
ABCA5	23461	broad.mit.edu	37	17	67246059	67246059	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:67246058_67246058TA>T	uc002jif.2	-	35	5971	c.4753_4753TA>A	c.(4753-4755)aagfs	p.K1585fs	ABCA5_uc002jib.2_Frame_Shift_Del_p.K551fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.K808fs|ABCA5_uc002jid.2_Frame_Shift_Del_p.K502fs|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Del_p.K1585fs	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1585					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTTCCAGCTTAAAAAAAGAT	0.299												
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCACGGAGCCACCCCCCAGTG	0.677												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013286	+	Splice_Site	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:57013284_57013285C>CT	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGGA	0.297												
SERPINB8	5271	broad.mit.edu	37	18	61652328	61652329	+	Splice_Site	INS	-	-	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:61652327_61652328G>GA	uc002ljv.3	+	6	737	c.568_splice	c.e6-1	p.E190_splice	SERPINB8_uc002ljt.3_Splice_Site_p.E190_splice|SERPINB8_uc002lju.3_Splice_Site_p.E190_splice|SERPINB8_uc010xex.2_Splice_Site_p.E8_splice	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	190					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTTCCGTTAGGAAAAAAAGACA	0.376												
PIP5K1C	23396	broad.mit.edu	37	19	3648643	3648645	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:3648642_3648644CGAT>C	uc002lyj.2	-	8	1279_1281	c.1190_1192ATCG>G	c.(1189-1194)atcgac>aGac	p.397_398ID>R	PIP5K1C_uc010xhq.2_In_Frame_Del_p.397_398ID>R|PIP5K1C_uc010xhr.2_In_Frame_Del_p.397_398ID>R	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	397	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGCAGGATGTCGATGATGCCAAT	0.690												
MUC16	94025	broad.mit.edu	37	19	9059157	9059158	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:9059156_9059157G>GT	uc002mkp.3	-	2	28493_28494	c.28289_28290C>AC	c.(28288-28290)aacfs	p.N9430fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9432	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGAGGGCTGTTTTTTTCCAC	0.510												
MUC16	94025	broad.mit.edu	37	19	9076020	9076020	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:9076019_9076019CT>C	uc002mkp.3	-	2	11631	c.11427_11427AG>G	c.(11425-11427)aagfs	p.K3809fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3810	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGCTCTGCCTTTTTGCTTG	0.522												
ECSIT	51295	broad.mit.edu	37	19	11618821	11618821	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:11618820_11618820TG>T	uc002msb.3	-	4	916	c.782_782CA>A	c.(781-783)cagfs	p.Q261fs	ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Frame_Shift_Del_p.Q261fs|ECSIT_uc010dyd.3_Frame_Shift_Del_p.Q261fs|ECSIT_uc010xma.2_Frame_Shift_Del_p.Q47fs	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	261					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GATGTGGGGCTGGGGGGGATC	0.582												
ZNF20	7568	broad.mit.edu	37	19	12244670	12244671	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12244669_12244670C>CCA	uc002mtg.2	-	7	913_914	c.331_332G>TGG	c.(331-333)ggafs	p.G111fs	ZNF20_uc002mte.2_Frame_Shift_Ins_p.G76fs|ZNF20_uc002mtf.2_Frame_Shift_Ins_p.G111fs|ZNF20_uc021upm.1_Frame_Shift_Ins_p.G108fs	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GCCAACTTCTCCACACACACTG	0.431												
ZNF443	10224	broad.mit.edu	37	19	12541062	12541062	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12541061_12541061GT>G	uc002mtu.3	-	3	2123	c.1925_1925AC>C	c.(1924-1926)actfs	p.T642fs		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	642					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCCAGTGTGAGTTTTTTTCCA	0.403												
FBXW9	84261	broad.mit.edu	37	19	12800974	12800975	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12800973_12800974G>GC	uc010dyx.2	-	5	894_895	c.894_895C>GC	c.(892-897)gggcctfs	p.G298fs	FBXW9_uc010xmp.2_Intron|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	308							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCCCTCGAAGGCCCCCCCCAGC	0.624												
ASNA1	439	broad.mit.edu	37	19	12858848	12858849	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12858847_12858848C>CG	uc002muv.3	+	6	990_991	c.976_977C>CG	c.(976-978)cggfs	p.R326fs		NM_004317	NP_004308	O43681	ASNA_HUMAN	Homo sapiens arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) (ASNA1), mRNA.	326					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	ATP binding|arsenite-transporting ATPase activity|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	CCATGAGGTGCGGGGGGCAGAC	0.624												
PKN1	5585	broad.mit.edu	37	19	14562741	14562741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:14562740_14562740GC>G	uc002myp.3	+	6	1238	c.1070_1070GC>G	c.(1069-1071)cgcfs	p.R357fs	PKN1_uc002myq.3_Frame_Shift_Del_p.R363fs	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	357	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGACAGCCGCCCCCCCTTC	0.672												
ZNF43	7594	broad.mit.edu	37	19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATCTAGTATAATTTTTTTTAT	0.348												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
EXOC3L2	90332	broad.mit.edu	37	19	45716496	45716496	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:45716495_45716495AG>A	uc002pay.1	-	9	1103	c.1062_1062CT>T	c.(1060-1062)cctfs	p.P354fs		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	354										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CACGGTCCCGAGGGGGTGACA	0.682												
TEAD2	8463	broad.mit.edu	37	19	49850473	49850474	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	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												
VSTM1	284415	broad.mit.edu	37	19	54544249	54544249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:54544248_54544248TG>T	uc002qcw.4	-	8	854	c.678_678CA>A	c.(676-678)ccafs	p.P226fs	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Frame_Shift_Del_p.P138fs|VSTM1_uc002qcx.4_Frame_Shift_Del_p.P195fs|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Frame_Shift_Del_p.P106fs	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	226						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CATGAGATCCTGGGGGCTCCT	0.557												
ZNF217	7764	broad.mit.edu	37	20	52193226	52193226	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:52193225_52193225GC>G	uc002xwq.4	-	2	2420	c.2078_2078GC>C	c.(2077-2079)gctfs	p.A693fs	ZNF217_uc010gij.1_Frame_Shift_Del_p.A685fs	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	693					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ATTGTGAAGAGCCCCCACGGA	0.423												
STX16	8675	broad.mit.edu	37	20	57244434	57244436	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:57244433_57244435CGTG>C	uc002xzi.3	+	4	1234_1236	c.480_482CGTG>C	c.(478-483)aacgtg>aaCg	p.V162del	STX16_uc021wfi.1_In_Frame_Del_p.V109del|STX16_uc002xzk.3_In_Frame_Del_p.V145del|STX16_uc010zzq.2_Intron|STX16_uc002xzl.3_Intron|STX16_uc002xzm.3_In_Frame_Del_p.V158del|STX16_uc002xzj.3_In_Frame_Del_p.V141del|STX16_uc021wfj.1_Intron	NM_001001433	NP_001191797	O14662	STX16_HUMAN	Homo sapiens syntaxin 16 (STX16), transcript variant 1, mRNA.	162					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|SNARE complex|integral to membrane|microsome	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TGCTTGGGAACGTGGTGGCCTCG	0.680												
ZNF831	128611	broad.mit.edu	37	20	57766220	57766221	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:57766219_57766220G>GC	uc002yan.3	+	0	145_146	c.145_146G>GC	c.(145-147)gccfs	p.A49fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	49	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728												
TBX1	6899	broad.mit.edu	37	22	19754190	19754191	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:19754189_19754190C>CA	uc002zqa.1	+	8	1416_1417	c.1287_1288C>CA	c.(1285-1290)gccaagfs	p.A429fs	TBX1_uc002zqb.3_Intron|TBX1_uc002zqc.3_Intron	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	57					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				ATCTCGGGGCCAAGAGCCGGCC	0.738												
SMARCB1	6598	broad.mit.edu	37	22	24134057	24134057	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:24134056_24134056TA>T	uc002zyd.3	+	2	412	c.205_splice	c.e2+2	p.D69_splice	SMARCB1_uc002zyg.2_Frame_Shift_Del_p.G69fs|SMARCB1_uc011ajb.1_Splice_Site_p.D69_splice|SMARCB1_uc002zya.3_Frame_Shift_Del_p.G69fs|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.G69fs|SMARCB1_uc002zyc.3_Splice_Site_p.D69_splice|SMARCB1_uc002zye.1_Frame_Shift_Del_p.G32fs|SMARCB1_uc002zyf.1_Splice_Site|SMARCB1_uc010gue.1_Splice_Site	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	78					DNA integration|cell cycle|chromatin remodeling|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	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGTCACATGGTAAAAAAACAA	0.438			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid						
SFI1	9814	broad.mit.edu	37	22	31998270	31998271	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:31998269_31998270CAG>C	uc003ale.3	+	15	2009_2010	c.1616_1617CAG>C	c.(1615-1617)gcafs	p.A539fs	SFI1_uc003ald.1_Frame_Shift_Del_p.A515fs|SFI1_uc003alf.3_Frame_Shift_Del_p.A508fs|SFI1_uc003alg.3_Frame_Shift_Del_p.A457fs|SFI1_uc011alp.2_Frame_Shift_Del_p.A457fs|SFI1_uc011alq.2_Frame_Shift_Del_p.A484fs|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	539					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AACCGCCTGGCAGAGAGAATGG	0.490												
MKL1	57591	broad.mit.edu	37	22	40816542	40816542	+	Frame_Shift_Del	DEL	G	G	-	rs34028511		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:40816541_40816541TG>T	uc003ayv.1	-	7	1128	c.921_921CA>A	c.(919-921)ccafs	p.P307fs	MKL1_uc010gyf.1_Frame_Shift_Del_p.P257fs|MKL1_uc003ayw.1_Frame_Shift_Del_p.P307fs|MKL1_uc010gye.1_Frame_Shift_Del_p.P307fs	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	307					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.V308fs*9(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCTGCGTACTGGGGGGGTCC	0.657			T	RBM15	acute megakaryocytic leukemia							
CPT1B	1375	broad.mit.edu	37	22	51014627	51014628	+	Splice_Site	DEL	AT	AT	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:51014626_51014627CAT>C	uc003bmm.3	-	6	798	c.699_splice	c.e6+1	p.Y233_splice	CPT1B_uc003bmk.4_Splice_Site_p.Y233_splice|CPT1B_uc003bml.3_Splice_Site_p.Y233_splice|CPT1B_uc003bmo.3_Splice_Site_p.Y233_splice|CPT1B_uc011asa.2_Splice_Site_p.Y199_splice|CPT1B_uc003bmn.3_Splice_Site_p.Y233_splice|CPT1B_uc011asb.2_Splice_Site_p.Y233_splice|CPT1B_uc003bmp.3_Splice_Site_p.Y30_splice|CPT1B_uc021wsc.1_Splice_Site	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	233					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CAGGAACTTACATAGTTACTTG	0.564											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
REPS2	9185	broad.mit.edu	37	X	17165605	17165605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:17165604_17165604AC>A	uc004cxv.1	+	17	2154	c.1983_1983AC>A	c.(1981-1983)tgafs	p.*661fs	REPS2_uc004cxw.1_Frame_Shift_Del_p.*660fs|REPS2_uc011miw.1_Frame_Shift_Del_p.*459fs	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	0					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTGTGTTGTGACCCCCCCATG	0.418												
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639326	+	In_Frame_Ins	INS	-	-	CAG			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:149639324_149639325A>ACAG	uc011mxu.2	+	2	1714_1715	c.1404_1405A>ACAG	c.(1402-1407)caacag>caACAGag	p.468_469QQ>QQ	MAMLD1_uc011mxt.1_In_Frame_Ins_p.455_456QQ>QQ|MAMLD1_uc004fee.2_In_Frame_Ins_p.493_494QQ>QQ|MAMLD1_uc011mxv.2_In_Frame_Ins_p.468_469QQ>QQ|MAMLD1_uc011mxw.2_In_Frame_Ins_p.420_421QQ>QQ	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	493					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TAAGCcagcaacagcagcagca	0.540